#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
C1orf159	54991	broad.mit.edu	37	1	1021391	1021391	+	Splice_Site	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:1021391C>A	ENST00000379339.1	-	9	630	c.420G>T	c.(418-420)ggG>ggT	p.G140G	C1orf159_ENST00000421241.2_Splice_Site_p.G104G|C1orf159_ENST00000482816.1_5'UTR|C1orf159_ENST00000294576.5_Splice_Site_p.G104G|C1orf159_ENST00000448924.1_Splice_Site_p.G140G|C1orf159_ENST00000379319.1_Splice_Site_p.G104G|C1orf159_ENST00000437760.1_Splice_Site_p.G104G|C1orf159_ENST00000379320.1_Splice_Site_p.G104G			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	140						integral component of membrane (GO:0016021)		p.G14G(1)				all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CGCGCGGAGCCCCTGCAAACA	0.662																																						uc001act.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(418-420)GGG>GGT		hypothetical protein LOC54991							43.0	44.0	44.0					1																	1021391		2203	4300	6503	SO:0001630	splice_region_variant	54991					integral to membrane		g.chr1:1021391C>A	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.419-1G>T	1.37:g.1021391C>A						C1orf159_uc001acu.2_Silent_p.G104G|C1orf159_uc001acr.2_RNA|C1orf159_uc001acs.2_RNA|C1orf159_uc010nyd.1_RNA|C1orf159_uc001acm.2_Silent_p.G104G|C1orf159_uc009vju.1_Missense_Mutation_p.W82C|C1orf159_uc001acn.2_Silent_p.G104G|C1orf159_uc001acp.2_Silent_p.G104G	p.G140G	NM_017891	NP_060361	Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	9	906	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	140					B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Silent	SNP	ENST00000379339.1	37	c.420G>T																																																																																					PASS	0.662	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891	Silent	4	33	4	33	---	---	---	---
LRRC47	57470	broad.mit.edu	37	1	3703673	3703673	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:3703673C>T	ENST00000378251.1	-	2	844	c.817G>A	c.(817-819)Gag>Aag	p.E273K	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	273							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)	p.E273K(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		tccGAGCCCTCGGCACGGCCC	0.672																																						uc001akx.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(817-819)GAG>AAG		leucine rich repeat containing 47							95.0	66.0	76.0					1																	3703673		2203	4300	6503	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3703673C>T	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.817G>A	1.37:g.3703673C>T	ENSP00000367498:p.Glu273Lys						p.E273K	NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	2	845	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	273					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.817G>A	CCDS51.1	.	.	.	.	.	.	.	.	.	.	C	4.344	0.063300	0.08388	.	.	ENSG00000130764	ENST00000378251	T	0.39787	1.06	4.6	3.68	0.42216	.	0.958863	0.08408	N	0.950394	T	0.20820	0.0501	N	0.08118	0	0.09310	N	1	P	0.40638	0.725	B	0.28139	0.086	T	0.03193	-1.1062	10	0.15499	T	0.54	-5.8003	13.8248	0.63343	0.0:0.8456:0.1544:0.0	.	273	Q8N1G4	LRC47_HUMAN	K	273	ENSP00000367498:E273K	ENSP00000367498:E273K	E	-	1	0	LRRC47	3693533	0.997000	0.39634	0.002000	0.10522	0.004000	0.04260	3.588000	0.53964	0.891000	0.36235	0.650000	0.86243	GAG		PASS	0.672	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		6	61	6	61	---	---	---	---
NPPB	4879	broad.mit.edu	37	1	11918371	11918371	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:11918371G>T	ENST00000376468.3	-	2	385	c.288C>A	c.(286-288)taC>taA	p.Y96*		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	96					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.Y96*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	CCCGCAGGGTGTAGAGGACCA	0.652																																						uc001atj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(286-288)TAC>TAA		natriuretic peptide precursor B preproprotein	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)						51.0	46.0	48.0					1																	11918371		2203	4300	6503	SO:0001587	stop_gained	4879				body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity	g.chr1:11918371G>T	BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"""Endogenous ligands"""	7940	protein-coding gene	gene with protein product		600295	"""natriuretic peptide precursor B"""			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.288C>A	1.37:g.11918371G>T	ENSP00000365651:p.Tyr96*						p.Y96*	NM_002521	NP_002512	P16860	ANFB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	390	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	96					B0ZBE9|Q6FGY0|Q9P2Q7	Nonsense_Mutation	SNP	ENST00000376468.3	37	c.288C>A	CCDS140.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909473	0.52439	.	.	ENSG00000120937	ENST00000376468	.	.	.	4.15	2.22	0.28083	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	6.9883	0.24741	0.1894:0.6068:0.2039:0.0	.	.	.	.	X	96	.	ENSP00000365651:Y96X	Y	-	3	2	NPPB	11840958	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.233000	0.17911	0.330000	0.23485	-0.311000	0.09066	TAC		PASS	0.652	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		15	57	15	57	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34312521	34312521	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:34312521T>A	ENST00000373381.4	-	6	1173	c.997A>T	c.(997-999)Aac>Tac	p.N333Y		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N293Y(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCGGTGGTTGCCATCCGAT	0.612																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(877-879)AAC>TAC		CUB and Sushi multiple domains 2							74.0	68.0	70.0					1																	34312521		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34312521T>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.997A>T	1.37:g.34312521T>A	ENSP00000362479:p.Asn333Tyr					CSMD2_uc001bxm.1_Missense_Mutation_p.N333Y	p.N293Y	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			6	906	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	293			CUB 2.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.877A>T		.	.	.	.	.	.	.	.	.	.	T	26.5	4.741019	0.89573	.	.	ENSG00000121904	ENST00000373381	D	0.87809	-2.3	4.82	4.82	0.62117	CUB (5);	0.000000	0.85682	D	0.000000	D	0.91321	0.7263	L	0.60012	1.86	0.80722	D	1	P;D	0.76494	0.916;0.999	P;D	0.81914	0.866;0.995	D	0.91977	0.5591	10	0.72032	D	0.01	.	12.6056	0.56521	0.0:0.0:0.0:1.0	.	293;333	Q7Z408;E7EUA6	CSMD2_HUMAN;.	Y	333	ENSP00000362479:N333Y	ENSP00000241312:N293Y	N	-	1	0	CSMD2	34085108	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.485000	0.81204	1.926000	0.55796	0.459000	0.35465	AAC		PASS	0.612	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		15	51	15	51	---	---	---	---
ZMYM6	9204	broad.mit.edu	37	1	35469607	35469607	+	Splice_Site	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:35469607C>A	ENST00000357182.4	-	14	2182		c.e14-1		ZMYM6_ENST00000373340.2_Splice_Site|ZMYM6_ENST00000487874.1_Splice_Site|ZMYM6_ENST00000493328.1_Splice_Site	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTAACTGCACCTGTTGTAAAT	0.323																																						uc001byh.2																			1	Unknown(1)		lung(1)	ovary(3)	3						c.e14-1		zinc finger protein 258							67.0	66.0	66.0					1																	35469607		2202	4299	6501	SO:0001630	splice_region_variant	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35469607C>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1955-1G>T	1.37:g.35469607C>A						ZMYM6_uc001byf.1_Splice_Site_p.G652_splice|ZMYM6_uc010oht.1_Splice_Site_p.G555_splice|ZMYM6_uc009vup.2_Splice_Site_p.G458_splice|ZMYM6_uc009vuq.1_Splice_Site_p.G652_splice	p.G652_splice	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			14	2183	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)						B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Splice_Site	SNP	ENST00000357182.4	37	c.1955_splice	CCDS387.2	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833946	0.50951	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5951	0.68400	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZMYM6	35242194	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.385000	0.59613	2.273000	0.75805	0.484000	0.47621	.		PASS	0.323	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167	Intron	5	44	5	44	---	---	---	---
EFCAB7	84455	broad.mit.edu	37	1	64011719	64011719	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:64011719C>G	ENST00000371088.4	+	7	1183	c.937C>G	c.(937-939)Caa>Gaa	p.Q313E	DLEU2L_ENST00000371086.2_5'Flank|DLEU2L_ENST00000340052.3_5'Flank	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	313							calcium ion binding (GO:0005509)	p.Q313E(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAACCTGAGTCAAGTTGAAGG	0.338																																						uc001dbf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(937-939)CAA>GAA		EF-hand calcium binding domain 7							95.0	96.0	96.0					1																	64011719		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:64011719C>G	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.937C>G	1.37:g.64011719C>G	ENSP00000360129:p.Gln313Glu					DLEU2L_uc001dbg.1_5'Flank	p.Q313E	NM_032437	NP_115813	A8K855	EFCB7_HUMAN			7	1231	+			313					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.937C>G	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883940	0.33255	.	.	ENSG00000203965	ENST00000371088	T	0.40756	1.02	5.6	5.6	0.85130	.	0.361713	0.34133	N	0.004239	T	0.25827	0.0629	M	0.62723	1.935	0.80722	D	1	P	0.35328	0.495	B	0.28849	0.095	T	0.06625	-1.0816	10	0.33141	T	0.24	-13.712	14.4533	0.67399	0.1472:0.8528:0.0:0.0	.	313	A8K855	EFCB7_HUMAN	E	313	ENSP00000360129:Q313E	ENSP00000360129:Q313E	Q	+	1	0	EFCAB7	63784307	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	2.179000	0.42528	2.650000	0.89964	0.585000	0.79938	CAA		PASS	0.338	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		5	75	5	75	---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70482199	70482199	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:70482199G>T	ENST00000035383.5	+	12	1218	c.1188G>T	c.(1186-1188)ttG>ttT	p.L396F	LRRC7_ENST00000310961.5_Missense_Mutation_p.L401F|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	396						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.L396F(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTGCAGCTTTGTGGCTTTCTG	0.294																																						uc001dep.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1186-1188)TTG>TTT		leucine rich repeat containing 7							97.0	99.0	99.0					1																	70482199		2201	4294	6495	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70482199G>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1188G>T	1.37:g.70482199G>T	ENSP00000035383:p.Leu396Phe					LRRC7_uc009wbg.2_5'UTR	p.L396F	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			12	1218	+			396			LRR 17.		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1188G>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891465	0.52014	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.52295	0.67;1.48	5.43	2.43	0.29744	.	0.000000	0.64402	D	0.000001	T	0.52980	0.1768	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.57596	-0.7784	10	0.87932	D	0	.	9.6525	0.39906	0.2372:0.0:0.7628:0.0	.	396	Q96NW7	LRRC7_HUMAN	F	401;396;219	ENSP00000309245:L401F;ENSP00000035383:L396F	ENSP00000035383:L396F	L	+	3	2	LRRC7	70254787	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.004000	0.29822	0.303000	0.22785	-0.355000	0.07637	TTG		PASS	0.294	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		5	62	5	62	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74507325	74507325	+	Silent	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:74507325T>C	ENST00000395089.1	-	6	1289	c.1290A>G	c.(1288-1290)caA>caG	p.Q430Q	LRRIQ3_ENST00000354431.4_Silent_p.Q430Q			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	430								p.Q430Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CCTGCTTCTTTTGTTCTGTGT	0.368																																						uc001dfy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1288-1290)CAA>CAG		leucine-rich repeats and IQ motif containing 3							179.0	162.0	167.0					1																	74507325		1833	4086	5919	SO:0001819	synonymous_variant	127255							g.chr1:74507325T>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1290A>G	1.37:g.74507325T>C						LRRIQ3_uc001dfz.3_Intron	p.Q430Q	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1482	-			430					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1290A>G	CCDS41350.1																																																																																				PASS	0.368	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		4	113	4	113	---	---	---	---
CRYZ	1429	broad.mit.edu	37	1	75175781	75175781	+	Splice_Site	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:75175781C>A	ENST00000340866.5	-	6	718		c.e6+1		CRYZ_ENST00000370872.3_Splice_Site|CRYZ_ENST00000492102.1_5'Flank|CRYZ_ENST00000370871.3_Splice_Site|CRYZ_ENST00000417775.1_Splice_Site	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)						protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	GAAAATTTTACCTTAATTTTA	0.353																																						uc001dgk.2																			1	Unknown(1)		lung(1)		0						c.e7+1		crystallin, zeta isoform a	Dicumarol(DB00266)						47.0	50.0	49.0					1																	75175781		2202	4300	6502	SO:0001630	splice_region_variant	1429				protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding	g.chr1:75175781C>A		CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.630+1G>T	1.37:g.75175781C>A						CRYZ_uc001dgj.2_Splice_Site_p.K210_splice|CRYZ_uc001dgl.2_Splice_Site_p.K210_splice|CRYZ_uc001dgm.2_Splice_Site_p.K73_splice	p.K210_splice	NM_001130042	NP_001123514	Q08257	QOR_HUMAN			7	1135	-								A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Splice_Site	SNP	ENST00000340866.5	37	c.630_splice	CCDS665.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511141	0.64522	.	.	ENSG00000116791	ENST00000340866;ENST00000370872;ENST00000417775;ENST00000370871;ENST00000370870	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0061	0.89210	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CRYZ	74948369	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	6.809000	0.75211	2.649000	0.89929	0.557000	0.71058	.		PASS	0.353	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026514.1		Intron	3	32	3	32	---	---	---	---
USP33	23032	broad.mit.edu	37	1	78183552	78183552	+	Splice_Site	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:78183552T>C	ENST00000370793.1	-	18	2357	c.2011A>G	c.(2011-2013)Agt>Ggt	p.S671G	USP33_ENST00000370794.3_Splice_Site_p.S640G|USP33_ENST00000357428.1_Splice_Site_p.S671G|USP33_ENST00000370792.3_Splice_Site_p.S663G	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	671	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.S671G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATATACTTACTACTTGCAGTT	0.388																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(2011-2013)AGT>GGT		ubiquitin specific protease 33 isoform 1							90.0	92.0	91.0					1																	78183552		2203	4300	6503	SO:0001630	splice_region_variant	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78183552T>C	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2011+1A>G	1.37:g.78183552T>C						USP33_uc001dhs.2_Missense_Mutation_p.S392G|USP33_uc001dhu.2_Missense_Mutation_p.S640G|USP33_uc001dhv.2_Missense_Mutation_p.S476G|USP33_uc001dhw.2_Missense_Mutation_p.S663G	p.S671G	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			18	2358	-			671					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.2011A>G	CCDS678.1	.	.	.	.	.	.	.	.	.	.	T	7.352	0.623014	0.14193	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.32272	1.53;1.46;1.46;1.53	4.7	4.7	0.59300	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	L	0.31207	0.915	0.58432	D	0.999999	B;B;B;B	0.12013	0.004;0.004;0.005;0.001	B;B;B;B	0.17722	0.011;0.007;0.019;0.002	T	0.08513	-1.0718	10	0.02654	T	1	.	14.4885	0.67634	0.0:0.0:0.0:1.0	.	663;640;671;5	Q8TEY7-3;Q8TEY7-2;Q8TEY7;Q9Y417	.;.;UBP33_HUMAN;.	G	640;671;671;663	ENSP00000359830:S640G;ENSP00000359829:S671G;ENSP00000350009:S671G;ENSP00000359828:S663G	ENSP00000350009:S671G	S	-	1	0	USP33	77956140	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.651000	0.83577	1.902000	0.55061	0.460000	0.39030	AGT		PASS	0.388	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	Missense_Mutation	11	98	11	98	---	---	---	---
NGF	4803	broad.mit.edu	37	1	115829224	115829224	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:115829224C>G	ENST00000369512.2	-	3	361	c.193G>C	c.(193-195)Ggg>Cgg	p.G65R	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	65					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)	p.G65R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CGGGTCTGCCCCGCCACGCGT	0.632																																						uc001efu.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)	2						c.(193-195)GGG>CGG		nerve growth factor, beta polypeptide precursor	Clenbuterol(DB01407)						42.0	44.0	43.0					1																	115829224		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829224C>G		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.193G>C	1.37:g.115829224C>G	ENSP00000358525:p.Gly65Arg						p.G65R	NM_002506	NP_002497	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	362	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	65					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.193G>C	CCDS882.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903516	0.52333	.	.	ENSG00000134259	ENST00000369512	T	0.61274	0.12	5.06	5.06	0.68205	.	0.197317	0.35838	N	0.002957	T	0.55401	0.1918	M	0.79475	2.455	0.32883	D	0.510787	D	0.54964	0.969	P	0.49276	0.605	T	0.64089	-0.6489	10	0.54805	T	0.06	-22.1908	12.6545	0.56780	0.1656:0.8344:0.0:0.0	.	65	P01138	NGF_HUMAN	R	65	ENSP00000358525:G65R	ENSP00000358525:G65R	G	-	1	0	NGF	115630747	0.072000	0.21174	0.993000	0.49108	0.607000	0.37147	0.309000	0.19332	2.507000	0.84556	0.467000	0.42956	GGG		PASS	0.632	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		11	39	11	39	---	---	---	---
HSD3B1	3283	broad.mit.edu	37	1	120057197	120057197	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:120057197C>A	ENST00000369413.3	+	4	1196	c.1051C>A	c.(1051-1053)Cag>Aag	p.Q351K	HSD3B1_ENST00000528909.1_Missense_Mutation_p.Q351K|HSD3B1_ENST00000235547.6_Missense_Mutation_p.Q353K			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	351					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.Q351K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GGAAGCCAAGCAGAAAACGGT	0.498																																						uc001ehv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1051-1053)CAG>AAG		3 beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)|Trilostane(DB01108)						68.0	57.0	60.0					1																	120057197		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120057197C>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.1051C>A	1.37:g.120057197C>A	ENSP00000358421:p.Gln351Lys					HSD3B1_uc001ehw.2_Missense_Mutation_p.Q353K	p.Q351K	NM_000862	NP_000853	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	1196	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	351					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.1051C>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	4.426	0.078794	0.08533	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.87029	-2.2;-2.2;-2.2	3.26	2.32	0.28847	.	0.368200	0.26792	N	0.022472	T	0.66015	0.2747	L	0.42686	1.345	0.32162	N	0.582853	B;B	0.12630	0.003;0.006	B;B	0.12837	0.008;0.008	T	0.50516	-0.8819	10	0.17369	T	0.5	-0.5691	9.5716	0.39431	0.2116:0.7883:0.0:0.0	.	353;351	Q5TDG2;P14060	.;3BHS1_HUMAN	K	351;353;351	ENSP00000358421:Q351K;ENSP00000235547:Q353K;ENSP00000432268:Q351K	ENSP00000235547:Q353K	Q	+	1	0	HSD3B1	119858720	0.225000	0.23685	0.962000	0.40283	0.260000	0.26232	0.780000	0.26760	0.667000	0.31107	0.313000	0.20887	CAG		PASS	0.498	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		13	42	13	42	---	---	---	---
LCE1B	353132	broad.mit.edu	37	1	152784937	152784937	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:152784937G>T	ENST00000360090.3	+	1	491	c.15G>T	c.(13-15)caG>caT	p.Q5H		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	5					keratinization (GO:0031424)			p.Q5H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGCCAGCAGAACCAGCAGC	0.602																																						uc001faq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(13-15)CAG>CAT		late cornified envelope 1B							91.0	91.0	91.0					1																	152784937		2203	4300	6503	SO:0001583	missense	353132				keratinization			g.chr1:152784937G>T	BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.15G>T	1.37:g.152784937G>T	ENSP00000353203:p.Gln5His						p.Q5H	NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	491	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		5					A4IF40	Missense_Mutation	SNP	ENST00000360090.3	37	c.15G>T	CCDS1027.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589354	0.28357	.	.	ENSG00000196734	ENST00000360090;ENST00000439693	T	0.07327	3.2	4.48	3.56	0.40772	.	0.000000	0.35207	N	0.003373	T	0.17408	0.0418	M	0.85542	2.76	0.25558	N	0.987014	D	0.64830	0.994	D	0.75484	0.986	T	0.01512	-1.1336	10	0.87932	D	0	.	7.6935	0.28581	0.1124:0.0:0.8876:0.0	.	5	Q5T7P3	LCE1B_HUMAN	H	5	ENSP00000353203:Q5H	ENSP00000353203:Q5H	Q	+	3	2	LCE1B	151051561	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.172000	0.31908	2.486000	0.83907	0.650000	0.86243	CAG		PASS	0.602	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349		20	124	20	124	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156617423	156617423	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:156617423T>A	ENST00000329117.5	+	4	926	c.590T>A	c.(589-591)cTt>cAt	p.L197H	RP11-284F21.10_ENST00000605886.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.L197H|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	197	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.L197H(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCGCCTACCTTGGGGGCTAT	0.637																																						uc001fpp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(589-591)CTT>CAT		brevican isoform 1							73.0	77.0	76.0					1																	156617423		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617423T>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.590T>A	1.37:g.156617423T>A	ENSP00000331210:p.Leu197His					BCAN_uc001fpo.2_Missense_Mutation_p.L197H	p.L197H	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			4	926	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		197			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.590T>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.618607	0.46736	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	4.26	4.26	0.50523	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.238205	0.28555	N	0.014922	T	0.01489	0.0048	N	0.01874	-0.695	0.37449	D	0.91472	B;B	0.27416	0.178;0.018	B;B	0.35039	0.194;0.048	T	0.39251	-0.9623	10	0.51188	T	0.08	-10.0553	8.0327	0.30474	0.1815:0.0:0.0:0.8185	.	197;197	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	197;197;95;197	ENSP00000331210:L197H;ENSP00000389898:L197H;ENSP00000401709:L95H;ENSP00000354925:L197H	ENSP00000331210:L197H	L	+	2	0	BCAN	154884047	0.019000	0.18553	0.991000	0.47740	0.993000	0.82548	2.237000	0.43061	1.775000	0.52247	0.363000	0.22086	CTT		PASS	0.637	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		13	168	13	168	---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156841432	156841432	+	Silent	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:156841432A>G	ENST00000524377.1	+	7	776	c.735A>G	c.(733-735)ccA>ccG	p.P245P	NTRK1_ENST00000392302.2_Silent_p.P215P|NTRK1_ENST00000358660.3_Silent_p.P245P|NTRK1_ENST00000368196.3_Silent_p.P245P	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	245	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P245P(1)|p.P215P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GGGGTCTGCCATCCCTGGGGC	0.582			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(733-735)CCA>CCG		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						65.0	64.0	64.0					1																	156841432		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156841432A>G	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.735A>G	1.37:g.156841432A>G		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.P215P|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Silent_p.P245P|NTRK1_uc009wsk.1_Silent_p.P245P	p.P245P	NM_002529	NP_002520	P04629	NTRK1_HUMAN			7	791	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		245			Ig-like C2-type 1.|Extracellular (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.735A>G	CCDS1161.1																																																																																				PASS	0.582	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		12	84	12	84	---	---	---	---
OR6K2	81448	broad.mit.edu	37	1	158669530	158669530	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:158669530G>T	ENST00000359610.2	-	1	956	c.913C>A	c.(913-915)Cac>Aac	p.H305N		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H305N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGACCTATGTGCTTTTTTATA	0.383																																						uc001fsu.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(913-915)CAC>AAC		olfactory receptor, family 6, subfamily K,							75.0	74.0	74.0					1																	158669530		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669530G>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.913C>A	1.37:g.158669530G>T	ENSP00000352626:p.His305Asn						p.H305N	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	913	-	all_hematologic(112;0.0378)		305			Cytoplasmic (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.913C>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	1.958	-0.439669	0.04636	.	.	ENSG00000196171	ENST00000359610	T	0.37058	1.22	4.81	3.87	0.44632	.	0.441359	0.17199	N	0.183206	T	0.08403	0.0209	N	0.08118	0	0.27402	N	0.954814	B	0.06786	0.001	B	0.10450	0.005	T	0.15037	-1.0451	10	0.52906	T	0.07	-8.7424	8.9726	0.35917	0.1729:0.0:0.8271:0.0	.	305	Q8NGY2	OR6K2_HUMAN	N	305	ENSP00000352626:H305N	ENSP00000352626:H305N	H	-	1	0	OR6K2	156936154	0.809000	0.29036	0.968000	0.41197	0.046000	0.14306	0.587000	0.23909	2.468000	0.83385	0.561000	0.74099	CAC		PASS	0.383	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		15	36	15	36	---	---	---	---
MNDA	4332	broad.mit.edu	37	1	158812004	158812004	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:158812004C>T	ENST00000368141.4	+	2	322	c.61C>T	c.(61-63)Cat>Tat	p.H21Y	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	21	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H21Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGATGATTATCATTTTACATC	0.313																																						uc001fsz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(61-63)CAT>TAT		myeloid cell nuclear differentiation antigen							73.0	73.0	73.0					1																	158812004		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158812004C>T	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.61C>T	1.37:g.158812004C>T	ENSP00000357123:p.His21Tyr						p.H21Y	NM_002432	NP_002423	P41218	MNDA_HUMAN			2	261	+	all_hematologic(112;0.0378)		21			DAPIN.			Missense_Mutation	SNP	ENST00000368141.4	37	c.61C>T	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781258	0.31502	.	.	ENSG00000163563	ENST00000368141	T	0.48836	0.8	3.51	0.24	0.15489	Pyrin (2);	.	.	.	.	T	0.13756	0.0333	L	0.33245	0.995	0.09310	N	1	B	0.22080	0.064	B	0.24848	0.056	T	0.27297	-1.0078	9	0.36615	T	0.2	-1.008	3.3606	0.07185	0.0:0.5209:0.2203:0.2588	.	21	P41218	MNDA_HUMAN	Y	21	ENSP00000357123:H21Y	ENSP00000357123:H21Y	H	+	1	0	MNDA	157078628	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.055000	0.11807	0.281000	0.22233	0.557000	0.71058	CAT		PASS	0.313	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		4	46	4	46	---	---	---	---
RGS5	8490	broad.mit.edu	37	1	163138098	163138098	+	Silent	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:163138098G>A	ENST00000313961.5	-	2	382	c.105C>T	c.(103-105)gaC>gaT	p.D35D	RGS5_ENST00000367903.3_Silent_p.D55D|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000530507.1_Silent_p.D35D|RP11-267N12.1_ENST00000415437.1_RNA	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	35					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.D35D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GAATGACAAGGTCACCAACTG	0.468																																						uc001gcn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(103-105)GAC>GAT		regulator of G-protein signalling 5							222.0	210.0	214.0					1																	163138098		2203	4300	6503	SO:0001819	synonymous_variant	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163138098G>A	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.105C>T	1.37:g.163138098G>A						RGS5_uc009wvb.2_Intron	p.D35D	NM_003617	NP_003608	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		2	352	-			35					E9PMP5|Q53XA9|Q599J0	Silent	SNP	ENST00000313961.5	37	c.105C>T	CCDS1244.1																																																																																				PASS	0.468	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1	NM_003617		29	125	29	125	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167096912	167096912	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:167096912G>T	ENST00000361200.2	+	6	2710	c.2544G>T	c.(2542-2544)agG>agT	p.R848S	DUSP27_ENST00000443333.1_Missense_Mutation_p.R848S|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R848S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	848					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R848S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGGAGCTTAGGGAGAAGATGT	0.498																																						uc001geb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2542-2544)AGG>AGT		dual specificity phosphatase 27							71.0	65.0	67.0					1																	167096912		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096912G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2544G>T	1.37:g.167096912G>T	ENSP00000354483:p.Arg848Ser						p.R848S	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	2544	+			848					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2544G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	4.485	0.089901	0.08632	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04275	3.66;3.66;3.66	5.47	2.07	0.26955	.	0.145914	0.43260	N	0.000589	T	0.01523	0.0049	L	0.47716	1.5	0.37976	D	0.933436	B	0.10296	0.003	B	0.08055	0.003	T	0.37798	-0.9690	10	0.36615	T	0.2	-17.4544	3.7397	0.08524	0.2344:0.0:0.4419:0.3237	.	848	Q5VZP5	DUS27_HUMAN	S	848	ENSP00000354483:R848S;ENSP00000271385:R848S;ENSP00000404874:R848S	ENSP00000271385:R848S	R	+	3	2	DUSP27	165363536	1.000000	0.71417	0.997000	0.53966	0.210000	0.24377	0.916000	0.28651	0.641000	0.30601	0.551000	0.68910	AGG		PASS	0.498	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	79	5	79	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167097009	167097009	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:167097009G>T	ENST00000361200.2	+	6	2807	c.2641G>T	c.(2641-2643)Ggt>Tgt	p.G881C	DUSP27_ENST00000443333.1_Missense_Mutation_p.G881C|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.G881C			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	881					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G881C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGAGGATGATGGTGTGGGTGA	0.488																																						uc001geb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2641-2643)GGT>TGT		dual specificity phosphatase 27							107.0	90.0	96.0					1																	167097009		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097009G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2641G>T	1.37:g.167097009G>T	ENSP00000354483:p.Gly881Cys						p.G881C	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	2641	+			881					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.2641G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	5.187	0.220086	0.09863	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03212	4.01;4.01;4.01	5.4	4.48	0.54585	.	0.507715	0.17900	N	0.158238	T	0.00967	0.0032	N	0.22421	0.69	0.09310	N	1	P	0.47034	0.889	B	0.36959	0.237	T	0.48115	-0.9063	10	0.56958	D	0.05	-1.5368	7.7099	0.28671	0.1928:0.0:0.8072:0.0	.	881	Q5VZP5	DUS27_HUMAN	C	881	ENSP00000354483:G881C;ENSP00000271385:G881C;ENSP00000404874:G881C	ENSP00000271385:G881C	G	+	1	0	DUSP27	165363633	0.052000	0.20516	0.001000	0.08648	0.177000	0.22998	2.016000	0.40971	1.222000	0.43521	0.643000	0.83706	GGT		PASS	0.488	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		7	57	7	57	---	---	---	---
CACYBP	27101	broad.mit.edu	37	1	174976282	174976282	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:174976282G>A	ENST00000367679.2	+	4	829	c.381G>A	c.(379-381)atG>atA	p.M127I	CACYBP_ENST00000367681.2_Missense_Mutation_p.M84I|CACYBP_ENST00000405362.1_Missense_Mutation_p.M84I	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	127	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with SKP1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.M127I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						GTTACTCCATGATTGTGAACA	0.353																																						uc001gkj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)ATG>ATA		calcyclin binding protein isoform 1							133.0	130.0	131.0					1																	174976282		2203	4300	6503	SO:0001583	missense	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174976282G>A	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.381G>A	1.37:g.174976282G>A	ENSP00000356652:p.Met127Ile					CACYBP_uc001gki.1_Missense_Mutation_p.M84I	p.M127I	NM_014412	NP_055227	Q9HB71	CYBP_HUMAN			4	806	+			127			Interaction with SKP1.|CS.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	c.381G>A	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044943	0.75846	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	T;T;T	0.12569	2.67;2.67;2.67	6.08	6.08	0.98989	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	M	0.67397	2.05	0.80722	D	1	B	0.23058	0.079	B	0.30943	0.122	T	0.01688	-1.1295	10	0.54805	T	0.06	-16.6554	20.6634	0.99662	0.0:0.0:1.0:0.0	.	127	Q9HB71	CYBP_HUMAN	I	84;100;127;84	ENSP00000356654:M84I;ENSP00000356652:M127I;ENSP00000385771:M84I	ENSP00000356652:M127I	M	+	3	0	CACYBP	173242905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.783000	0.91813	2.894000	0.99253	0.655000	0.94253	ATG		PASS	0.353	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		9	64	9	64	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175049335	175049335	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:175049335C>A	ENST00000239462.4	+	4	934	c.821C>A	c.(820-822)aCg>aAg	p.T274K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	274	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.T274K(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCAAGAACACGGAGGATTCT	0.612																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(820-822)ACG>AAG		tenascin N precursor							49.0	51.0	51.0					1																	175049335		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049335C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.821C>A	1.37:g.175049335C>A	ENSP00000239462:p.Thr274Lys					TNN_uc010pmx.1_Missense_Mutation_p.T274K	p.T274K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	934	+		Breast(1374;0.000962)	274			Fibronectin type-III 1.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.821C>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436419	0.83885	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.60171	0.21	5.58	5.58	0.84498	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79730	0.4496	M	0.85462	2.755	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.99	T	0.80777	-0.1231	10	0.49607	T	0.09	.	19.1811	0.93623	0.0:1.0:0.0:0.0	.	274;274	B3KXB6;Q9UQP3	.;TENN_HUMAN	K	274	ENSP00000239462:T274K	ENSP00000239462:T274K	T	+	2	0	TNN	173315958	0.992000	0.36948	0.956000	0.39512	0.595000	0.36748	3.033000	0.49743	2.621000	0.88768	0.650000	0.86243	ACG		PASS	0.612	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		10	102	10	102	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175293589	175293589	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:175293589A>T	ENST00000367674.2	-	22	4568	c.3860T>A	c.(3859-3861)gTg>gAg	p.V1287E	TNR_ENST00000263525.2_Missense_Mutation_p.V1287E|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1287	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.V1287E(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACAGTTAGTCACTGCAACATC	0.502																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3859-3861)GTG>GAG		tenascin R precursor							265.0	205.0	226.0					1																	175293589		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175293589A>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3860T>A	1.37:g.175293589A>T	ENSP00000356646:p.Val1287Glu					TNR_uc009wwu.1_Missense_Mutation_p.V1287E	p.V1287E	NM_003285	NP_003276	Q92752	TENR_HUMAN			20	3941	-	Renal(580;0.146)		1287			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3860T>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.854449	0.91355	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.75589	-0.95;-0.95	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	N	0.13168	0.305	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	T	0.81055	-0.1106	10	0.87932	D	0	.	15.5673	0.76303	1.0:0.0:0.0:0.0	.	1287	Q92752	TENR_HUMAN	E	1287;1287;1197	ENSP00000356646:V1287E;ENSP00000263525:V1287E	ENSP00000263525:V1287E	V	-	2	0	TNR	173560212	1.000000	0.71417	0.801000	0.32222	0.898000	0.52572	9.210000	0.95106	2.154000	0.67381	0.533000	0.62120	GTG		PASS	0.502	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		7	92	7	92	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564697	176564697	+	Missense_Mutation	SNP	C	C	A	rs370271956		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:176564697C>A	ENST00000367662.3	+	3	3121	c.1957C>A	c.(1957-1959)Cgc>Agc	p.R653S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R653S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	653	Metalloprotease.				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.R653S(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCTGATGTGCGCAAGACCTG	0.527																																						uc001gkz.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1957-1959)CGC>AGC		pappalysin 2 isoform 1		C	SER/ARG,SER/ARG	0,4338		0,0,2169	51.0	56.0	54.0		1957,1957	5.4	0.4	1		54	1,8527		0,1,4263	no	missense,missense	PAPPA2	NM_020318.2,NM_021936.2	110,110	0,1,6432	AA,AC,CC		0.0117,0.0,0.0078	benign,benign	653/1792,653/828	176564697	1,12865	2169	4264	6433	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564697C>A	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.1957C>A	1.37:g.176564697C>A	ENSP00000356634:p.Arg653Ser					PAPPA2_uc001gky.1_Missense_Mutation_p.R653S|PAPPA2_uc009www.2_RNA	p.R653S	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	3121	+			653			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1957C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	3.360	-0.130699	0.06753	0.0	1.17E-4	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.29655	4.81;1.56	5.42	5.42	0.78866	.	0.993904	0.08179	N	0.985817	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	B;B	0.23990	0.003;0.095	B;B	0.16289	0.006;0.015	T	0.09100	-1.0690	10	0.20519	T	0.43	-3.0132	13.791	0.63140	0.1927:0.8073:0.0:0.0	.	653;653	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	S	653	ENSP00000356634:R653S;ENSP00000356633:R653S	ENSP00000356633:R653S	R	+	1	0	PAPPA2	174831320	0.000000	0.05858	0.358000	0.25811	0.579000	0.36224	-0.066000	0.11598	2.542000	0.85734	0.650000	0.86243	CGC		PASS	0.527	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			7	55	7	55	---	---	---	---
TMCC2	9911	broad.mit.edu	37	1	205238663	205238663	+	Silent	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:205238663C>T	ENST00000358024.3	+	3	1722	c.1333C>T	c.(1333-1335)Ctg>Ttg	p.L445L	TMCC2_ENST00000545499.1_Silent_p.L367L|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.L220L|TMCC2_ENST00000329800.7_Silent_p.L205L	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	445						integral component of membrane (GO:0016021)		p.L220L(1)|p.L445L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CATCGCCCACCTGAAGGACCC	0.642																																						uc001hbz.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1333-1335)CTG>TTG		transmembrane and coiled-coil domain family 2							47.0	54.0	52.0					1																	205238663		2203	4300	6503	SO:0001819	synonymous_variant	9911					integral to membrane	protein binding	g.chr1:205238663C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1333C>T	1.37:g.205238663C>T						TMCC2_uc010prf.1_Silent_p.L367L|TMCC2_uc001hca.2_Silent_p.L220L|TMCC2_uc001hcb.1_Silent_p.L205L|TMCC2_uc001hcc.1_Silent_p.L66L|TMCC2_uc001hcd.2_Silent_p.L212L	p.L445L	NM_014858	NP_055673	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		4	1777	+	Breast(84;0.0871)		445					A2RRH3|B7Z1P7|Q6ZN09	Silent	SNP	ENST00000358024.3	37	c.1333C>T	CCDS30984.1																																																																																				PASS	0.642	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		24	104	24	104	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207789970	207789970	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:207789970A>G	ENST00000367049.4	+	41	6712	c.6712A>G	c.(6712-6714)Act>Gct	p.T2238A	CR1_ENST00000367052.1_Missense_Mutation_p.T1788A|CR1_ENST00000400960.2_Missense_Mutation_p.T1788A|CR1_ENST00000367053.1_Missense_Mutation_p.T1788A|CR1_ENST00000367051.1_Missense_Mutation_p.T1788A	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1788					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.T2238A(1)|p.T1793A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACACACAGGAACTCCCTTTGG	0.418																																						uc001hfy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(5362-5364)ACT>GCT		complement receptor 1 isoform F precursor							123.0	116.0	119.0					1																	207789970		1855	4088	5943	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207789970A>G	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6712A>G	1.37:g.207789970A>G	ENSP00000356016:p.Thr2238Ala					CR1_uc001hfx.2_Missense_Mutation_p.T2238A	p.T1788A	NM_000573	NP_000564	P17927	CR1_HUMAN			33	5502	+			1788			Sushi 28.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.5362A>G	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.571169	0.00895	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	4.3	-1.32	0.09201	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.65186	0.2667	L	0.49256	1.55	0.09310	N	1	B;D	0.64830	0.0;0.994	B;D	0.72625	0.001;0.978	T	0.54899	-0.8224	9	0.22706	T	0.39	.	4.4067	0.11413	0.3508:0.3928:0.2564:0.0	.	1788;2238	P17927;E9PDY4	CR1_HUMAN;.	A	1788;1788;1788;1788;2238	ENSP00000356019:T1788A;ENSP00000356018:T1788A;ENSP00000356020:T1788A;ENSP00000383744:T1788A;ENSP00000356016:T2238A	ENSP00000356016:T2238A	T	+	1	0	CR1	205856593	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.487000	0.06505	-0.213000	0.10094	-0.321000	0.08615	ACT		PASS	0.418	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		12	131	12	131	---	---	---	---
HSD11B1	3290	broad.mit.edu	37	1	209907664	209907664	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:209907664C>A	ENST00000367028.2	+	7	846	c.677C>A	c.(676-678)gCa>gAa	p.A226E	HSD11B1_ENST00000367027.3_Missense_Mutation_p.A226E|HSD11B1_ENST00000261465.1_Missense_Mutation_p.A226E	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	226					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)	p.A226E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	GCCATGAAGGCAGTTTCTGGG	0.478																																						uc001hhj.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(676-678)GCA>GAA		11-beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)						64.0	60.0	61.0					1																	209907664		2203	4300	6503	SO:0001583	missense	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding	g.chr1:209907664C>A	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.677C>A	1.37:g.209907664C>A	ENSP00000355995:p.Ala226Glu					HSD11B1_uc001hhk.2_Missense_Mutation_p.A226E	p.A226E	NM_181755	NP_861420	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	7	784	+			226			Lumenal (Potential).		B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	37	c.677C>A	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	C	7.753	0.703668	0.15172	.	.	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	T;T;T	0.53423	0.62;0.62;0.62	5.95	1.81	0.25067	NAD(P)-binding domain (1);	0.408395	0.28317	N	0.015794	T	0.29491	0.0735	L	0.28115	0.83	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.13899	-1.0492	10	0.36615	T	0.2	.	6.2162	0.20656	0.2456:0.575:0.1131:0.0663	.	226	P28845	DHI1_HUMAN	E	226	ENSP00000355995:A226E;ENSP00000261465:A226E;ENSP00000355994:A226E	ENSP00000261465:A226E	A	+	2	0	HSD11B1	207974287	0.014000	0.17966	0.030000	0.17652	0.984000	0.73092	0.329000	0.19698	0.359000	0.24239	0.655000	0.94253	GCA		PASS	0.478	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		6	30	6	30	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215824045	215824045	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:215824045A>T	ENST00000307340.3	-	65	14618	c.14232T>A	c.(14230-14232)caT>caA	p.H4744Q	USH2A_ENST00000366943.2_Missense_Mutation_p.H4744Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4744	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.H4744Q(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGAGATCACATGGAACGTGG	0.597										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14230-14232)CAT>CAA		usherin isoform B							140.0	137.0	138.0					1																	215824045		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215824045A>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14232T>A	1.37:g.215824045A>T	ENSP00000305941:p.His4744Gln	HNSCC(13;0.011)					p.H4744Q	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	65	14619	-			4744			Fibronectin type-III 33.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14232T>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	1.311	-0.602176	0.03744	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52754	0.65;0.65	5.41	-6.36	0.01969	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.43747	U	0.000523	T	0.31513	0.0799	N	0.20766	0.605	0.09310	N	0.999991	D	0.56035	0.974	P	0.44860	0.462	T	0.36817	-0.9732	10	0.13470	T	0.59	.	21.8149	0.99961	0.1255:0.0:0.8745:0.0	.	4744	O75445	USH2A_HUMAN	Q	4744	ENSP00000305941:H4744Q;ENSP00000355910:H4744Q	ENSP00000305941:H4744Q	H	-	3	2	USH2A	213890668	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-0.264000	0.08658	-1.226000	0.02574	-0.417000	0.06048	CAT		PASS	0.597	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		25	274	25	274	---	---	---	---
ARF1	375	broad.mit.edu	37	1	228285621	228285621	+	Silent	SNP	G	G	A	rs146827674	byFrequency	TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:228285621G>A	ENST00000541182.1	+	5	715	c.453G>A	c.(451-453)agG>agA	p.R151R	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Silent_p.R151R|MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000540651.1_Silent_p.R151R|C1orf35_ENST00000472617.1_5'Flank	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	151					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)	p.R151R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				TACGCCACAGGAACTGGTACA	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17469	0.0		0.0	False		,,,				2504	0.0					uc001hrr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(451-453)AGG>AGA		ADP-ribosylation factor 1		A	,,,	1,4405	2.1+/-5.4	0,1,2202	78.0	72.0	74.0		453,453,453,453	2.3	1.0	1	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARF1	NM_001024226.1,NM_001024227.1,NM_001024228.1,NM_001658.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	151/182,151/182,151/182,151/182	228285621	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375				cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	g.chr1:228285621G>A	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.453G>A	1.37:g.228285621G>A						ARF1_uc001hrs.2_Silent_p.R151R|ARF1_uc001hrt.2_Missense_Mutation_p.E73K|ARF1_uc009xev.2_RNA|ARF1_uc001hru.2_Silent_p.R151R|ARF1_uc001hrv.2_Silent_p.R151R|ARF1_uc001hrw.2_Silent_p.R151R	p.R151R	NM_001024226	NP_001019397	P84077	ARF1_HUMAN			5	681	+		Prostate(94;0.0405)	151					P10947|P32889	Silent	SNP	ENST00000541182.1	37	c.453G>A	CCDS1565.1																																																																																				PASS	0.617	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091650.1	NM_001024227		8	78	8	78	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229635458	229635458	+	Silent	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:229635458C>T	ENST00000261396.3	-	5	712	c.621G>A	c.(619-621)aaG>aaA	p.K207K	NUP133_ENST00000366678.3_Silent_p.K207K|NUP133_ENST00000537506.1_Silent_p.K191K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	207					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.K207K(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AACTGTAAGTCTTATCACCTC	0.408																																						uc001htn.2																			1	Substitution - coding silent(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(619-621)AAG>AAA		nucleoporin 133kDa							107.0	104.0	105.0					1																	229635458		2203	4300	6503	SO:0001819	synonymous_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229635458C>T		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.621G>A	1.37:g.229635458C>T							p.K207K	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			5	713	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	207					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	ENST00000261396.3	37	c.621G>A	CCDS1579.1																																																																																				PASS	0.408	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		8	81	8	81	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232574961	232574961	+	Silent	SNP	G	G	A	rs557045004		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:232574961G>A	ENST00000366630.1	-	14	4282	c.3924C>T	c.(3922-3924)gaC>gaT	p.D1308D	SIPA1L2_ENST00000308942.4_Silent_p.D382D|SIPA1L2_ENST00000262861.4_Silent_p.D1308D			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1308				D -> V (in Ref. 2; BAB14273). {ECO:0000305}.	regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.D1308D(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGCTGGCTCGTCGTCAGGCC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18059	0.0		0.0	False		,,,				2504	0.001					uc001hvg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(3922-3924)GAC>GAT		signal-induced proliferation-associated 1 like							36.0	41.0	39.0					1																	232574961		2078	4217	6295	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232574961G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3924C>T	1.37:g.232574961G>A						SIPA1L2_uc001hvf.2_Silent_p.D382D	p.D1308D	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			13	4082	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1308	D -> V (in Ref. 2; BAB14273).				Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.3924C>T	CCDS41474.1																																																																																				PASS	0.637	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		5	82	5	82	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237801698	237801698	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:237801698G>T	ENST00000366574.2	+	45	7151	c.6834G>T	c.(6832-6834)caG>caT	p.Q2278H	RYR2_ENST00000360064.6_Missense_Mutation_p.Q2276H|RYR2_ENST00000542537.1_Missense_Mutation_p.Q2262H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2278	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.Q2276H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGTTGCCAGATGCTGGTGT	0.423																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6832-6834)CAG>CAT		cardiac muscle ryanodine receptor							260.0	254.0	256.0					1																	237801698		1918	4140	6058	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.chr1:237801698G>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.6834G>T	1.37:g.237801698G>T	ENSP00000355533:p.Gln2278His						p.Q2278H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		45	6954	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2278			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6834G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770666	0.49680	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95205	-3.64;-3.64;-3.64	5.31	3.31	0.37934	Intracellular calcium-release channel (1);	0.350346	0.22816	N	0.055295	D	0.90823	0.7118	L	0.29908	0.895	0.80722	D	1	B	0.32040	0.353	B	0.43331	0.416	D	0.87897	0.2688	10	0.72032	D	0.01	-14.9988	3.7474	0.08554	0.0837:0.2284:0.5022:0.1857	.	2278	Q92736	RYR2_HUMAN	H	2278;2276;2262	ENSP00000355533:Q2278H;ENSP00000353174:Q2276H;ENSP00000443798:Q2262H	ENSP00000353174:Q2276H	Q	+	3	2	RYR2	235868321	0.272000	0.24172	1.000000	0.80357	0.815000	0.46073	-0.048000	0.11944	1.362000	0.46000	0.561000	0.74099	CAG		PASS	0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		31	141	31	141	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237806707	237806707	+	Silent	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:237806707C>A	ENST00000366574.2	+	48	7619	c.7302C>A	c.(7300-7302)ggC>ggA	p.G2434G	RYR2_ENST00000360064.6_Silent_p.G2432G|RYR2_ENST00000542537.1_Silent_p.G2418G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2434	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.G2432G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTGGTGGGCGTTATCAGCA	0.428																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7300-7302)GGC>GGA		cardiac muscle ryanodine receptor							179.0	169.0	172.0					1																	237806707		1890	4115	6005	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237806707C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7302C>A	1.37:g.237806707C>A							p.G2434G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		48	7422	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2434			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.7302C>A	CCDS55691.1																																																																																				PASS	0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	113	8	113	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237863674	237863674	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:237863674C>A	ENST00000366574.2	+	65	9591	c.9274C>A	c.(9274-9276)Cag>Aag	p.Q3092K	RYR2_ENST00000360064.6_Missense_Mutation_p.Q3090K|RYR2_ENST00000542537.1_Missense_Mutation_p.Q3076K|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3092					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.Q3090K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGGTTACTCAGATTATCAA	0.473																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(9274-9276)CAG>AAG		cardiac muscle ryanodine receptor							43.0	43.0	43.0					1																	237863674		1912	4121	6033	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.chr1:237863674C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9274C>A	1.37:g.237863674C>A	ENSP00000355533:p.Gln3092Lys					RYR2_uc010pxz.1_Missense_Mutation_p.Q47K	p.Q3092K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		65	9394	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3092			Helical; Name=M'; (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.9274C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478298	0.44044	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	T;T;T	0.28255	1.62;1.62;1.62	4.97	4.97	0.65823	.	0.000000	0.56097	U	0.000027	T	0.44477	0.1295	M	0.63428	1.95	0.80722	D	1	D	0.55800	0.973	P	0.52514	0.701	T	0.22695	-1.0209	10	0.25106	T	0.35	.	18.6031	0.91256	0.0:1.0:0.0:0.0	.	3092	Q92736	RYR2_HUMAN	K	3092;3090;3076;47;87	ENSP00000355533:Q3092K;ENSP00000353174:Q3090K;ENSP00000443798:Q3076K	ENSP00000353174:Q3090K	Q	+	1	0	RYR2	235930297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.449000	0.82847	0.557000	0.71058	CAG		PASS	0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	11	5	11	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248023988	248023988	+	Missense_Mutation	SNP	G	G	T	rs201462673		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:248023988G>T	ENST00000366481.3	+	2	538	c.490G>T	c.(490-492)Gtg>Ttg	p.V164L		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	164						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V164L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGGCCAACGTGGGGAAAAA	0.478																																						uc001ido.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(490-492)GTG>TTG		tripartite motif-containing 58							106.0	105.0	106.0					1																	248023988		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248023988G>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.490G>T	1.37:g.248023988G>T	ENSP00000355437:p.Val164Leu						p.V164L	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		2	538	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	164					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.490G>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	0.524	-0.861023	0.02610	.	.	ENSG00000162722	ENST00000366481	T	0.59906	0.23	4.02	2.13	0.27403	.	0.287861	0.24601	N	0.037136	T	0.40067	0.1102	L	0.39085	1.19	0.23082	N	0.998326	B	0.06786	0.001	B	0.06405	0.002	T	0.16453	-1.0402	10	0.23302	T	0.38	.	5.6579	0.17652	0.1092:0.2001:0.6907:0.0	.	164	Q8NG06	TRI58_HUMAN	L	164	ENSP00000355437:V164L	ENSP00000355437:V164L	V	+	1	0	TRIM58	246090611	0.045000	0.20229	0.400000	0.26346	0.001000	0.01503	0.046000	0.14035	0.467000	0.27218	-0.150000	0.13652	GTG		PASS	0.478	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		7	66	7	66	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248262938	248262938	+	Silent	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:248262938C>A	ENST00000358120.2	+	2	406	c.261C>A	c.(259-261)ggC>ggA	p.G87G	OR2L13_ENST00000366478.2_Silent_p.G87G			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G87G(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCCTGTCCGGCCAGAAAGGCA	0.542																																						uc001ids.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(259-261)GGC>GGA		olfactory receptor, family 2, subfamily L,							234.0	209.0	217.0					1																	248262938		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262938C>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.261C>A	1.37:g.248262938C>A							p.G87G	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	598	+	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)		87			Extracellular (Potential).		Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.261C>A	CCDS1637.1																																																																																				PASS	0.542	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		21	223	21	223	---	---	---	---
OR2T29	343563	broad.mit.edu	37	1	248722750	248722750	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr1:248722750C>G	ENST00000328570.3	-	1	47	c.43G>C	c.(43-45)Gat>Cat	p.D15H	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D15H(1)		NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGATGAAATCCAACCTTCCA	0.488																																						uc001ieo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(25-27)GAT>CAT		olfactory receptor, family 2, subfamily T,							91.0	71.0	78.0					1																	248722750		2203	4298	6501	SO:0001583	missense	343563				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248722750C>G		CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"""GPCR / Class A : Olfactory receptors"""	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.43G>C	1.37:g.248722750C>G	ENSP00000331774:p.Asp15His						p.D9H	NM_001004694	NP_001004694	Q8NH02	O2T29_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	25	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		15			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000328570.3	37	c.25G>C	CCDS55695.1	.	.	.	.	.	.	.	.	.	.	c	7.187	0.590735	0.13812	.	.	ENSG00000182783	ENST00000328570	T	0.03181	4.02	2.73	1.79	0.24919	.	0.885936	0.09447	N	0.800941	T	0.09423	0.0232	M	0.70787	2.145	0.26212	N	0.979285	P	0.49358	0.923	P	0.50192	0.634	T	0.22556	-1.0213	10	0.59425	D	0.04	.	7.4212	0.27073	0.0:0.8585:0.0:0.1415	.	15	Q8NH02	O2T29_HUMAN	H	15	ENSP00000331774:D15H	ENSP00000331774:D15H	D	-	1	0	OR2T29	246789373	0.028000	0.19301	0.023000	0.16930	0.027000	0.11550	2.223000	0.42936	0.352000	0.24053	0.196000	0.17591	GAT		PASS	0.488	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097132.1	NM_001004694		4	63	4	63	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1921047	1921047	+	Silent	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:1921047G>A	ENST00000399161.2	-	11	2295	c.1548C>T	c.(1546-1548)caC>caT	p.H516H	MYT1L_ENST00000428368.2_Silent_p.H514H	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	516					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.H516H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCCCAGTTACGTGGCCGGTTC	0.537																																						uc002qxe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(1546-1548)CAC>CAT		myelin transcription factor 1-like							193.0	201.0	198.0					2																	1921047		1986	4174	6160	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1921047G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1548C>T	2.37:g.1921047G>A						MYT1L_uc002qxd.2_Silent_p.H514H|MYT1L_uc010ewl.1_RNA	p.H516H	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	11	2375	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	516			C2HC-type 2.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1548C>T																																																																																					PASS	0.537	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		14	232	14	232	---	---	---	---
GPN1	11321	broad.mit.edu	37	2	27858012	27858012	+	Silent	SNP	C	C	T	rs368001974		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:27858012C>T	ENST00000610189.1	+	7	442	c.435C>T	c.(433-435)tcC>tcT	p.S145S	GPN1_ENST00000515877.1_Silent_p.S66S|GPN1_ENST00000424214.1_Silent_p.S66S|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000264718.3_Silent_p.S159S|GPN1_ENST00000458167.2_Silent_p.S50S|GPN1_ENST00000503738.1_Silent_p.S50S|ZNF512_ENST00000556601.1_3'UTR|GPN1_ENST00000407583.3_Silent_p.S133S|GPN1_ENST00000461249.1_3'UTR	NM_007266.3	NP_009197.2			GPN-loop GTPase 1									p.S145S(2)		endometrium(1)|large_intestine(1)|lung(12)	14						TTTAGGCATCCTCATTTCCAA	0.433																																						uc010ymc.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(475-477)TCC>TCT		GPN-loop GTPase 1 isoform a		C	,,,	0,4406		0,0,2203	209.0	190.0	197.0		399,198,150,477	0.1	1.0	2		197	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GPN1	NM_001145047.1,NM_001145048.1,NM_001145049.1,NM_007266.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	133/363,66/296,50/280,159/389	27858012	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27858012C>T	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.435C>T	2.37:g.27858012C>T						ZNF512_uc010yly.1_RNA|GPN1_uc010ezf.2_Silent_p.S133S|GPN1_uc010yma.1_Silent_p.S66S|GPN1_uc010ymb.1_Silent_p.S50S|GPN1_uc010ymd.1_Silent_p.S40S|GPN1_uc010yme.1_Silent_p.S159S|GPN1_uc010ezg.1_Silent_p.S40S	p.S159S	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN			7	498	+			145						Silent	SNP	ENST00000610189.1	37	c.477C>T																																																																																					PASS	0.433	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266		14	104	14	104	---	---	---	---
GPN1	11321	broad.mit.edu	37	2	27861080	27861080	+	Silent	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:27861080C>T	ENST00000610189.1	+	8	535	c.528C>T	c.(526-528)atC>atT	p.I176I	GPN1_ENST00000515877.1_Silent_p.I97I|GPN1_ENST00000424214.1_Silent_p.I97I|GPN1_ENST00000264718.3_Silent_p.I190I|GPN1_ENST00000458167.2_Silent_p.I81I|GPN1_ENST00000503738.1_Silent_p.I81I|GPN1_ENST00000407583.3_Silent_p.I164I|GPN1_ENST00000461249.1_3'UTR	NM_007266.3	NP_009197.2			GPN-loop GTPase 1									p.I176I(2)		endometrium(1)|large_intestine(1)|lung(12)	14						TTTTCAGCATCTTATACAAAA	0.373																																						uc010ymc.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(568-570)ATC>ATT		GPN-loop GTPase 1 isoform a							149.0	125.0	133.0					2																	27861080		2203	4299	6502	SO:0001819	synonymous_variant	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27861080C>T	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.528C>T	2.37:g.27861080C>T						GPN1_uc010ezf.2_Silent_p.I164I|GPN1_uc010yma.1_Silent_p.I97I|GPN1_uc010ymb.1_Silent_p.I81I|GPN1_uc010ymd.1_Silent_p.I71I|GPN1_uc010yme.1_Silent_p.I190I|GPN1_uc010ezg.1_Silent_p.I71I	p.I190I	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN			8	591	+			176						Silent	SNP	ENST00000610189.1	37	c.570C>T																																																																																					PASS	0.373	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1	NM_007266		8	57	8	57	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29293539	29293539	+	Missense_Mutation	SNP	G	G	T	rs369031088		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:29293539G>T	ENST00000331664.5	-	1	3588	c.3589C>A	c.(3589-3591)Cgc>Agc	p.R1197S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1197					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.R1197S(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCTGGCTGGCGGTCAGAAGCT	0.622																																						uc002rmt.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3589-3591)CGC>AGC		hypothetical protein LOC388939							42.0	49.0	46.0					2																	29293539		2093	4219	6312	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29293539G>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3589C>A	2.37:g.29293539G>T	ENSP00000332809:p.Arg1197Ser						p.R1197S	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	3589	-			1197						Missense_Mutation	SNP	ENST00000331664.5	37	c.3589C>A	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991946	0.74703	.	.	ENSG00000179270	ENST00000331664	T	0.21361	2.01	5.52	3.73	0.42828	.	0.354000	0.25247	N	0.032056	T	0.21509	0.0518	L	0.59436	1.845	0.33883	D	0.636347	P	0.39696	0.683	B	0.35470	0.203	T	0.34477	-0.9827	10	0.72032	D	0.01	-2.8885	12.31	0.54924	0.1374:0.0:0.8626:0.0	.	1197	A6NGG8	CB071_HUMAN	S	1197	ENSP00000332809:R1197S	ENSP00000332809:R1197S	R	-	1	0	C2orf71	29147043	0.997000	0.39634	0.006000	0.13384	0.738000	0.42128	2.186000	0.42593	0.702000	0.31825	0.655000	0.94253	CGC		PASS	0.622	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		46	90	46	90	---	---	---	---
SPAST	6683	broad.mit.edu	37	2	32361975	32361975	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:32361975A>G	ENST00000315285.3	+	11	1476	c.1351A>G	c.(1351-1353)Aga>Gga	p.R451G	SPAST_ENST00000345662.1_Missense_Mutation_p.R419G	NM_014946.3	NP_055761.2			spastin									p.R451G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTGTGAAAGAAGAGAAGGGGA	0.338																																						uc002roc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1351-1353)AGA>GGA		spastin isoform 1							114.0	121.0	119.0					2																	32361975		2203	4300	6503	SO:0001583	missense	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32361975A>G	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.1351A>G	2.37:g.32361975A>G	ENSP00000320885:p.Arg451Gly					SPAST_uc002rod.2_Missense_Mutation_p.R419G	p.R451G	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN			11	1572	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		451	R->G: Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing.		Sufficient for microtubule severing.			Missense_Mutation	SNP	ENST00000315285.3	37	c.1351A>G	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.315736	0.40996	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	D;D	0.92752	-3.1;-3.1	5.63	3.12	0.35913	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	N	0.01789	-0.72	0.53688	D	0.999972	B;B	0.27166	0.17;0.101	B;B	0.32533	0.115;0.147	T	0.70346	-0.4897	10	0.20519	T	0.43	-24.6683	13.0355	0.58867	0.6214:0.3786:0.0:0.0	.	419;451	E5KRP6;Q9UBP0	.;SPAST_HUMAN	G	419;451	ENSP00000340817:R419G;ENSP00000320885:R451G	ENSP00000320885:R451G	R	+	1	2	SPAST	32215479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.500000	0.53318	0.428000	0.26173	0.533000	0.62120	AGA		PASS	0.338	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		13	26	13	26	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32476605	32476605	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:32476605G>T	ENST00000404025.2	-	5	816	c.328C>A	c.(328-330)Cat>Aat	p.H110N	NLRC4_ENST00000360906.5_Missense_Mutation_p.H110N|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.H110N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	110	Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.H110N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GATGGGGTATGGTACAAGTCC	0.398																																						uc002roi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(328-330)CAT>AAT		caspase recruitment domain protein 12							62.0	64.0	64.0					2																	32476605		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476605G>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.328C>A	2.37:g.32476605G>T	ENSP00000385090:p.His110Asn					NLRC4_uc002roj.1_Missense_Mutation_p.H110N|NLRC4_uc010ezt.1_Intron	p.H110N	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	574	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		110					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.328C>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.964970	0.00461	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.50548	0.74;0.74;0.74	3.16	-0.14	0.13456	.	0.773311	0.10947	N	0.616557	T	0.21347	0.0514	N	0.04508	-0.205	0.22050	N	0.999399	B	0.02656	0.0	B	0.01281	0.0	T	0.31447	-0.9943	9	0.19147	T	0.46	-0.1881	7.3303	0.26577	0.0:0.1465:0.3781:0.4755	.	110	Q9NPP4	NLRC4_HUMAN	N	110	ENSP00000354159:H110N;ENSP00000385428:H110N;ENSP00000385090:H110N	ENSP00000354159:H110N	H	-	1	0	NLRC4	32330109	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.022000	0.13511	-0.165000	0.10908	0.543000	0.68304	CAT		PASS	0.398	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		35	49	35	49	---	---	---	---
LHCGR	3973	broad.mit.edu	37	2	48915007	48915007	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:48915007G>T	ENST00000294954.7	-	11	1950	c.1929C>A	c.(1927-1929)tgC>tgA	p.C643*	LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.C616*|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.C581*|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	643					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.C643*(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GACGTTTACAGCAGCCAAATT	0.373																																						uc002rwu.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(1)	8						c.(1927-1929)TGC>TGA		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						96.0	100.0	99.0					2																	48915007		2203	4300	6503	SO:0001587	stop_gained	3973	Familial_Male-Limited_Precocious_Puberty			male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915007G>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1929C>A	2.37:g.48915007G>T	ENSP00000294954:p.Cys643*					GTF2A1L_uc002rwt.2_Intron	p.C643*	NM_000233	NP_000224	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1999	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	643	C->G: Loss of palmitoylation.		Cytoplasmic (Potential).		Q14751|Q15996|Q9UEW9	Nonsense_Mutation	SNP	ENST00000294954.7	37	c.1929C>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821636	0.90873	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	.	.	.	5.92	3.17	0.36434	.	0.089450	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7584	0.34658	0.2869:0.0:0.7131:0.0	.	.	.	.	X	581;643;616	.	.	C	-	3	2	LHCGR	48768511	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.535000	0.53575	0.412000	0.25729	0.585000	0.79938	TGC		PASS	0.373	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		24	156	24	156	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49190478	49190478	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:49190478C>G	ENST00000406846.2	-	10	1601	c.1482G>C	c.(1480-1482)tgG>tgC	p.W494C	FSHR_ENST00000541117.1_Missense_Mutation_p.W230C|FSHR_ENST00000304421.4_Missense_Mutation_p.W468C|FSHR_ENST00000346173.3_Missense_Mutation_p.W432C	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	494					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.W494C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAGCAAAAATCCAGCCCATCA	0.532									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1480-1482)TGG>TGC		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						66.0	54.0	58.0					2																	49190478		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190478C>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1482G>C	2.37:g.49190478C>G	ENSP00000384708:p.Trp494Cys					FSHR_uc002rwx.2_Missense_Mutation_p.W432C|FSHR_uc010fbn.2_Missense_Mutation_p.W468C	p.W494C	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1556	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	494			Helical; Name=4; (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1482G>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904204	0.52333	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97201	0.9864	9	.	.	.	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	468;432;494	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	C	494;432;468;230	ENSP00000384708:W494C;ENSP00000333908:W432C;ENSP00000306780:W468C;ENSP00000444172:W230C	.	W	-	3	0	FSHR	49043982	1.000000	0.71417	0.979000	0.43373	0.565000	0.35776	7.609000	0.82925	2.941000	0.99782	0.655000	0.94253	TGG		PASS	0.532	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			8	53	8	53	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50280565	50280565	+	Silent	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:50280565C>G	ENST00000406316.2	-	20	5358	c.3882G>C	c.(3880-3882)gtG>gtC	p.V1294V	NRXN1_ENST00000402717.3_Silent_p.V1316V|NRXN1_ENST00000406859.3_Silent_p.V1294V|NRXN1_ENST00000401710.1_Silent_p.V312V|NRXN1_ENST00000401669.2_Silent_p.V1324V|NRXN1_ENST00000342183.5_Silent_p.V259V|NRXN1_ENST00000405472.3_Silent_p.V1316V|NRXN1_ENST00000404971.1_Silent_p.V1364V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1294	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.V1364V(1)|p.V1294V(1)|p.V259V(1)|p.V1365V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAACCAGTCTCACATTTCCCA	0.502																																						uc010fbp.2																			4	Substitution - coding silent(4)		lung(4)	ovary(2)	2						c.(775-777)GTG>GTC		neurexin 1 isoform beta precursor							165.0	138.0	147.0					2																	50280565		2203	4300	6503	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50280565C>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3882G>C	2.37:g.50280565C>G						NRXN1_uc002rxb.3_Silent_p.V996V|NRXN1_uc010fbq.2_Silent_p.V1364V|NRXN1_uc002rxe.3_Silent_p.V1294V	p.V259V	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		4	1584	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	259			Extracellular (Potential).|Laminin G-like.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.777G>C	CCDS54360.1																																																																																				PASS	0.502	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			14	115	14	115	---	---	---	---
MALL	7851	broad.mit.edu	37	2	110849307	110849307	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:110849307T>C	ENST00000272462.2	-	2	919	c.146A>G	c.(145-147)cAc>cGc	p.H49R	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	49	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)		p.H49R(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GTATACTATGTGGGTGGCGGC	0.448																																						uc002tfk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(145-147)CAC>CGC		mal, T-cell differentiation protein-like							97.0	85.0	89.0					2																	110849307		2202	4296	6498	SO:0001583	missense	7851				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding	g.chr2:110849307T>C	U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.146A>G	2.37:g.110849307T>C	ENSP00000272462:p.His49Arg					MALL_uc010fju.2_Intron	p.H49R	NM_005434	NP_005425	Q13021	MALL_HUMAN		Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)	2	920	-			49			MARVEL.		B3KWR6|Q9BTU0	Missense_Mutation	SNP	ENST00000272462.2	37	c.146A>G	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.310953	0.00237	.	.	ENSG00000144063	ENST00000272462	T	0.25085	1.82	3.47	2.29	0.28610	Marvel (1);MARVEL-like domain (1);	1.068430	0.07274	N	0.869562	T	0.10465	0.0256	N	0.04297	-0.235	0.20074	N	0.999935	B	0.02656	0.0	B	0.04013	0.001	T	0.34675	-0.9819	10	0.13108	T	0.6	-5.1428	4.4506	0.11619	0.0:0.268:0.0:0.732	.	49	Q13021	MALL_HUMAN	R	49	ENSP00000272462:H49R	ENSP00000272462:H49R	H	-	2	0	MALL	110206596	0.685000	0.27652	0.417000	0.26559	0.031000	0.12232	1.154000	0.31688	1.361000	0.45981	0.260000	0.18958	CAC		PASS	0.448	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	NM_005434		11	77	11	77	---	---	---	---
TMEM177	80775	broad.mit.edu	37	2	120439364	120439364	+	Nonstop_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:120439364G>T	ENST00000424086.1	+	2	1408	c.935G>T	c.(934-936)tGa>tTa	p.*312L	TMEM177_ENST00000401466.1_Nonstop_Mutation_p.*312L|TMEM177_ENST00000272521.6_Nonstop_Mutation_p.*312L|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	0						integral component of membrane (GO:0016021)		p.*312L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GGCCGCTCCTGATGGGCTCAT	0.582																																						uc010flg.1																			1	Nonstop extension(1)		lung(1)	ovary(1)	1						c.(934-936)TGA>TTA		transmembrane protein 177							37.0	41.0	39.0					2																	120439364		2203	4298	6501	SO:0001578	stop_lost	80775					integral to membrane		g.chr2:120439364G>T	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.935G>T	2.37:g.120439364G>T	ENSP00000402661:p.*312Leuext*74					TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Nonstop_Mutation_p.*312L|TMEM177_uc002tmd.2_Nonstop_Mutation_p.*312L|TMEM177_uc010flh.2_Intron	p.*312L	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN			2	1408	+	Colorectal(110;0.196)		312					Q9BT20	Nonstop_Mutation	SNP	ENST00000424086.1	37	c.935G>T	CCDS2128.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953012	0.34471	.	.	ENSG00000144120	ENST00000401466;ENST00000424086;ENST00000272521;ENST00000415646	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4237	0.49998	0.0:0.0:1.0:0.0	.	.	.	.	L	312;312;312;251	.	.	X	+	2	2	TMEM177	120155834	1.000000	0.71417	0.928000	0.36995	0.201000	0.24016	4.523000	0.60545	2.426000	0.82243	0.549000	0.68633	TGA		PASS	0.582	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1	NM_030577		17	90	17	90	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141253202	141253202	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:141253202T>C	ENST00000389484.3	-	56	9937	c.8966A>G	c.(8965-8967)tAc>tGc	p.Y2989C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2989	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.Y2989C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGGCACTTGTAAGTCCCGTA	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8965-8967)TAC>TGC		low density lipoprotein-related protein 1B							199.0	178.0	185.0					2																	141253202		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141253202T>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8966A>G	2.37:g.141253202T>C	ENSP00000374135:p.Tyr2989Cys	TSP Lung(27;0.18)					p.Y2989C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	56	9938	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2989			Extracellular (Potential).|EGF-like 7.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8966A>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.817964	0.71028	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.88664	-2.41	5.83	4.61	0.57282	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.166686	0.41294	D	0.000908	D	0.93491	0.7923	M	0.89414	3.03	0.41564	D	0.988642	D	0.69078	0.997	P	0.57283	0.817	D	0.94427	0.7646	10	0.72032	D	0.01	.	11.9284	0.52833	0.1301:0.0:0.0:0.8699	.	2989	Q9NZR2	LRP1B_HUMAN	C	2989;2927	ENSP00000374135:Y2989C	ENSP00000374135:Y2989C	Y	-	2	0	LRP1B	140969672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.021000	0.49651	2.240000	0.73641	0.477000	0.44152	TAC		PASS	0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	95	13	95	---	---	---	---
MMADHC	27249	broad.mit.edu	37	2	150426549	150426549	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:150426549C>T	ENST00000428879.1	-	7	1334	c.830G>A	c.(829-831)gGg>gAg	p.G277E	MMADHC_ENST00000422782.2_Missense_Mutation_p.G311E|MMADHC_ENST00000303319.5_Missense_Mutation_p.G277E			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	277					cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)		p.G277E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						GAAGATACTCCCTACAACTAC	0.383																																						uc002txb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(829-831)GGG>GAG		methylmalonic aciduria (cobalamin deficiency)							134.0	121.0	126.0					2																	150426549		2203	4300	6503	SO:0001583	missense	27249					mitochondrion		g.chr2:150426549C>T	BC023995	CCDS2189.1	2q23	2011-05-12	2009-01-08	2009-01-08	ENSG00000168288	ENSG00000168288			25221	protein-coding gene	gene with protein product		611935	"""chromosome 2 open reading frame 25"""	C2orf25		18385497	Standard	NM_015702		Approved	CL25022, cblD	uc002txc.3	Q9H3L0	OTTHUMG00000155558	ENST00000428879.1:c.830G>A	2.37:g.150426549C>T	ENSP00000389060:p.Gly277Glu					MMADHC_uc002txc.2_Missense_Mutation_p.G277E|MMADHC_uc010fnu.2_Missense_Mutation_p.G311E	p.G277E	NM_015702	NP_056517	Q9H3L0	MMAD_HUMAN			7	1335	-			277					B2R895|D3DP91|O95891	Missense_Mutation	SNP	ENST00000428879.1	37	c.830G>A	CCDS2189.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259142	0.80246	.	.	ENSG00000168288	ENST00000303319;ENST00000428879;ENST00000422782	D;D;D	0.93604	-3.25;-3.25;-3.25	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.97312	0.9121	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.981;0.999	D	0.98139	1.0435	10	0.87932	D	0	-0.4289	17.7164	0.88338	0.0:1.0:0.0:0.0	.	311;277	F8WEC0;Q9H3L0	.;MMAD_HUMAN	E	277;277;311	ENSP00000301920:G277E;ENSP00000389060:G277E;ENSP00000408331:G311E	ENSP00000301920:G277E	G	-	2	0	MMADHC	150134795	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.898000	0.69838	2.501000	0.84356	0.655000	0.94253	GGG		PASS	0.383	MMADHC-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332312.1	NM_015702		9	42	9	42	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165997321	165997321	+	Missense_Mutation	SNP	C	C	T	rs369720053		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:165997321C>T	ENST00000360093.3	-	13	2350	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.R620Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.R620Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	620					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R620Q(4)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTGTTGCGTCGCTCTCCATG	0.498																																						uc002ucx.2																			4	Substitution - Missense(4)		lung(4)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(1858-1860)CGA>CAA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						248.0	179.0	202.0					2																	165997321		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165997321C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1859G>A	2.37:g.165997321C>T	ENSP00000353206:p.Arg620Gln					SCN3A_uc002ucy.2_Missense_Mutation_p.R620Q|SCN3A_uc002ucz.2_Missense_Mutation_p.R620Q|SCN3A_uc002uda.1_Missense_Mutation_p.R489Q|SCN3A_uc002udb.1_Missense_Mutation_p.R489Q	p.R620Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			13	2351	-			620					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.1859G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.617194	0.96649	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11	6.07	6.07	0.98685	Domain of unknown function DUF3451 (1);	0.000000	0.49916	D	0.000140	D	0.97142	0.9066	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.987;0.987;0.998	P;D;P;P;P	0.72625	0.906;0.978;0.56;0.56;0.758	D	0.97109	0.9803	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	620;620;620;620;620	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	Q	620	ENSP00000353206:R620Q;ENSP00000283254:R620Q;ENSP00000386726:R620Q;ENSP00000403348:R620Q	ENSP00000283254:R620Q	R	-	2	0	SCN3A	165705567	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.012000	0.57131	2.885000	0.99019	0.655000	0.94253	CGA		PASS	0.498	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	48	6	48	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166848153	166848153	+	Nonsense_Mutation	SNP	C	C	A	rs148703212		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:166848153C>A	ENST00000303395.4	-	26	5631	c.5632G>T	c.(5632-5634)Gag>Tag	p.E1878*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.E1867*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.E1850*|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.E1878*			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1878					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.E1867*(1)|p.E1878*(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)	TCTCCACTCTCTCCTAGAACC	0.448																																						uc010zcz.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(5599-5601)GAG>TAG		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						85.0	79.0	81.0					2																	166848153		2203	4300	6503	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166848153C>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.5632G>T	2.37:g.166848153C>A	ENSP00000303540:p.Glu1878*						p.E1867*	NM_006920	NP_008851	P35498	SCN1A_HUMAN			26	5617	-			1878					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.5599G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	44	11.147705	0.99522	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	.	.	.	X	1878;1878;1867;1850	.	ENSP00000303540:E1878X	E	-	1	0	SCN1A	166556399	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	7.773000	0.85462	2.788000	0.95919	0.650000	0.86243	GAG		PASS	0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		11	88	11	88	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179397113	179397113	+	Silent	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:179397113A>G	ENST00000591111.1	-	308	99530	c.99306T>C	c.(99304-99306)taT>taC	p.Y33102Y	TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Silent_p.Y25678Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000589042.1_Silent_p.Y34743Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.Y25870Y|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Silent_p.Y25803Y|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.Y32175Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589391.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33102					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.Y25678Y(1)|p.Y32173Y(1)|p.Y25870Y(1)|p.Y25803Y(1)|p.Y32175Y(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)			TCAGTTCTGCATAACTTGTAC	0.498																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(96523-96525)TAT>TAC		titin isoform N2-A							205.0	192.0	196.0					2																	179397113		2033	4193	6226	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397113A>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.99306T>C	2.37:g.179397113A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Y25870Y|TTN_uc010zfi.1_Silent_p.Y25803Y|TTN_uc010zfj.1_Silent_p.Y25678Y	p.Y32175Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	96749	-			33102					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.96525T>C																																																																																					PASS	0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	93	18	93	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179397773	179397773	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:179397773G>C	ENST00000591111.1	-	308	98870	c.98646C>G	c.(98644-98646)ttC>ttG	p.F32882L	TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F25458L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F34523L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F25650L|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F25583L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F31955L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589391.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32882					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.F25583L(1)|p.F25650L(1)|p.F31953L(1)|p.F25458L(1)|p.F31955L(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)			TCTCAAGTCTGAATTCCCCTT	0.453																																						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.(95863-95865)TTC>TTG		titin isoform N2-A							208.0	213.0	211.0					2																	179397773		1897	4120	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397773G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98646C>G	2.37:g.179397773G>C	ENSP00000465570:p.Phe32882Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.F25650L|TTN_uc010zfi.1_Missense_Mutation_p.F25583L|TTN_uc010zfj.1_Missense_Mutation_p.F25458L	p.F31955L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	96089	-			32882					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.95865C>G		.	.	.	.	.	.	.	.	.	.	G	4.650	0.120791	0.08881	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61392	0.11;0.34;0.32;0.31	5.94	2.9	0.33743	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.38081	0.1027	N	0.14661	0.345	0.23568	N	0.997397	B;B;B;B	0.15141	0.012;0.012;0.012;0.012	B;B;B;B	0.15870	0.008;0.008;0.014;0.014	T	0.31081	-0.9956	9	0.87932	D	0	.	6.3922	0.21593	0.6859:0.0:0.3141:0.0	.	25458;25583;25650;32882	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	31955;25458;25650;25583;25455	ENSP00000343764:F31955L;ENSP00000434586:F25458L;ENSP00000340554:F25650L;ENSP00000352154:F25583L	ENSP00000340554:F25650L	F	-	3	2	TTN	179106019	1.000000	0.71417	0.604000	0.28916	0.014000	0.08584	3.948000	0.56660	0.338000	0.23692	-1.036000	0.02392	TTC		PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	286	21	286	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179460466	179460466	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:179460466C>G	ENST00000591111.1	-	245	52916	c.52692G>C	c.(52690-52692)tgG>tgC	p.W17564C	TTN_ENST00000460472.2_Missense_Mutation_p.W10140C|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W19205C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W10332C|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W10265C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W16637C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17564	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.W10332C(1)|p.W16637C(1)|p.W10140C(1)|p.W16635C(1)|p.W10265C(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)			CTGGAGAAAACCATGTCAGTT	0.438																																						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.(49909-49911)TGG>TGC		titin isoform N2-A							79.0	74.0	76.0					2																	179460466		1910	4124	6034	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179460466C>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.52692G>C	2.37:g.179460466C>G	ENSP00000465570:p.Trp17564Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W10332C|TTN_uc010zfi.1_Missense_Mutation_p.W10265C|TTN_uc010zfj.1_Missense_Mutation_p.W10140C	p.W16637C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		244	50135	-			17564					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.49911G>C		.	.	.	.	.	.	.	.	.	.	C	16.52	3.146416	0.57044	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	6.05	6.05	0.98169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96562	0.8878	H	0.97829	4.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97211	0.9871	9	0.87932	D	0	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	10140;10265;10332;17564	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	16637;10140;10332;10265;10138	ENSP00000343764:W16637C;ENSP00000434586:W10140C;ENSP00000340554:W10332C;ENSP00000352154:W10265C	ENSP00000340554:W10332C	W	-	3	0	TTN	179168712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.878000	0.98634	0.650000	0.86243	TGG		PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		2	4	2	4	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179582845	179582845	+	Silent	SNP	A	A	T	rs535603112		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:179582845A>T	ENST00000591111.1	-	84	24161	c.23937T>A	c.(23935-23937)tcT>tcA	p.S7979S	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.S8296S|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S7052S|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12170	Ig-like 62.				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.S7052S(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)			CTTTATACCAAGAAATTCTAA	0.383																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(21154-21156)TCT>TCA		titin isoform N2-A							125.0	115.0	118.0					2																	179582845		1859	4107	5966	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582845A>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.23937T>A	2.37:g.179582845A>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S3713S	p.S7052S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		83	21380	-			7979					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.21156T>A																																																																																					PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	53	15	53	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179583559	179583559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:179583559G>T	ENST00000591111.1	-	82	23641	c.23417C>A	c.(23416-23418)tCa>tAa	p.S7806*	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.S8123*|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.S6879*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13345	Ig-like 60.				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.S6879*(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)			GATGTTGCATGACTCCCCAGG	0.483																																						uc010zfg.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(20635-20637)TCA>TAA		titin isoform N2-A							78.0	76.0	77.0					2																	179583559		1976	4156	6132	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179583559G>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.23417C>A	2.37:g.179583559G>T	ENSP00000465570:p.Ser7806*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.S3540*	p.S6879*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		81	20860	-			7806					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.20636C>A		.	.	.	.	.	.	.	.	.	.	G	59	34.011330	0.99981	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.25036	N	0.991233	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4286	0.67233	0.0:0.0:0.7406:0.2594	.	.	.	.	X	6879	.	ENSP00000343764:S6879X	S	-	2	0	TTN	179291804	0.000000	0.05858	0.898000	0.35279	0.942000	0.58702	0.715000	0.25822	2.861000	0.98227	0.650000	0.86243	TCA		PASS	0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	32	6	32	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179597012	179597012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:179597012G>A	ENST00000591111.1	-	55	15957	c.15733C>T	c.(15733-15735)Cag>Tag	p.Q5245*	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Q5562*|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q4318*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12064	Ig-like 33.				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.Q4318*(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)			CAGGCTAGCTGGGTGGCATCT	0.403																																						uc010zfg.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12952-12954)CAG>TAG		titin isoform N2-A							120.0	115.0	117.0					2																	179597012		1897	4133	6030	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597012G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15733C>T	2.37:g.179597012G>A	ENSP00000465570:p.Gln5245*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q979*	p.Q4318*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		54	13176	-			5245					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.12952C>T		.	.	.	.	.	.	.	.	.	.	G	54	23.132636	0.99953	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.17	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.44136	D	0.996929	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4092	0.90545	0.0:0.4413:0.5587:0.0	.	.	.	.	X	4318	.	ENSP00000343764:Q4318X	Q	-	1	0	TTN	179305257	0.035000	0.19736	0.996000	0.52242	0.998000	0.95712	0.706000	0.25690	0.901000	0.36495	0.655000	0.94253	CAG		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	122	26	122	---	---	---	---
STAT4	6775	broad.mit.edu	37	2	191897726	191897726	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:191897726C>G	ENST00000392320.2	-	21	2316	c.2002G>C	c.(2002-2004)Gac>Cac	p.D668H	STAT4_ENST00000358470.4_Missense_Mutation_p.D668H|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	668					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D668H(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGGCTTTGTCTTTGGGAATG	0.398																																						uc002usm.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(2002-2004)GAC>CAC		signal transducer and activator of transcription							147.0	144.0	145.0					2																	191897726		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191897726C>G		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.2002G>C	2.37:g.191897726C>G	ENSP00000376134:p.Asp668His					STAT4_uc002usn.1_Missense_Mutation_p.D668H|STAT4_uc010zgk.1_Missense_Mutation_p.D513H|STAT4_uc002uso.2_Missense_Mutation_p.D668H	p.D668H	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		21	2256	-			668					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.2002G>C	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972163	0.92919	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.97404	-4.37;-4.37	5.65	5.65	0.86999	SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.98021	0.9348	L	0.56199	1.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.98740	1.0716	10	0.87932	D	0	-26.5576	20.0845	0.97795	0.0:1.0:0.0:0.0	.	577;668;668	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	H	668	ENSP00000351255:D668H;ENSP00000376134:D668H	ENSP00000351255:D668H	D	-	1	0	STAT4	191605971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.821000	0.97095	0.650000	0.86243	GAC		PASS	0.398	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		14	110	14	110	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200193597	200193597	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:200193597G>T	ENST00000417098.1	-	8	2026	c.1210C>A	c.(1210-1212)Cct>Act	p.P404T	SATB2_ENST00000443023.1_Missense_Mutation_p.P345T|SATB2_ENST00000428695.1_Missense_Mutation_p.P286T|SATB2_ENST00000260926.5_Missense_Mutation_p.P404T|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000457245.1_Missense_Mutation_p.P404T	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	404					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.P404T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTGTCCGAGGGTCTTCTTCC	0.468																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1210-1212)CCT>ACT		SATB homeobox 2							75.0	72.0	73.0					2																	200193597		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200193597G>T	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1210C>A	2.37:g.200193597G>T	ENSP00000401112:p.Pro404Thr					SATB2_uc010fsq.1_Missense_Mutation_p.P286T|SATB2_uc002uuz.1_Missense_Mutation_p.P404T|SATB2_uc002uva.1_Missense_Mutation_p.P404T	p.P404T	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			8	2027	-			404			CUT 1.		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.1210C>A	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084846	0.76642	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.65916	-0.14;-0.1;-0.14;-0.18;-0.14	4.98	4.1	0.47936	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.057516	0.64402	D	0.000001	T	0.79604	0.4474	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.97110	0.963;1.0	T	0.83150	-0.0104	10	0.87932	D	0	-12.2877	13.516	0.61541	0.0751:0.0:0.9249:0.0	.	286;404	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	T	404;345;404;286;404	ENSP00000401112:P404T;ENSP00000388764:P345T;ENSP00000260926:P404T;ENSP00000388581:P286T;ENSP00000405420:P404T	ENSP00000260926:P404T	P	-	1	0	SATB2	199901842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	1.454000	0.47793	0.650000	0.86243	CCT		PASS	0.468	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		7	52	7	52	---	---	---	---
INO80D	54891	broad.mit.edu	37	2	206911302	206911302	+	Silent	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:206911302T>A	ENST00000403263.1	-	5	1403	c.999A>T	c.(997-999)ccA>ccT	p.P333P		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	333					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.P228P(1)|p.P333P(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTGAGTCCTCTGGTTCCTCTC	0.423																																						uc002vaz.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(997-999)CCA>CCT		INO80 complex subunit D							76.0	76.0	76.0					2																	206911302		1892	4112	6004	SO:0001819	synonymous_variant	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206911302T>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.999A>T	2.37:g.206911302T>A							p.P333P	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			5	1404	-			333					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	c.999A>T	CCDS46500.1																																																																																				PASS	0.423	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		12	68	12	68	---	---	---	---
KANSL1L	151050	broad.mit.edu	37	2	210968907	210968907	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:210968907C>T	ENST00000281772.9	-	4	1612	c.1349G>A	c.(1348-1350)tGt>tAt	p.C450Y	KANSL1L_ENST00000457374.1_Missense_Mutation_p.C450Y|KANSL1L_ENST00000418791.1_Missense_Mutation_p.C450Y|KANSL1L_ENST00000452086.1_Missense_Mutation_p.C450Y	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	450						histone acetyltransferase complex (GO:0000123)		p.C450Y(1)									AGGATCTTGACACTCCTGGGG	0.393																																						uc002vds.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1348-1350)TGT>TAT		hypothetical protein LOC151050							109.0	104.0	106.0					2																	210968907		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210968907C>T	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1349G>A	2.37:g.210968907C>T	ENSP00000281772:p.Cys450Tyr					C2orf67_uc002vdt.2_Missense_Mutation_p.C450Y|C2orf67_uc002vdw.2_Missense_Mutation_p.C450Y|C2orf67_uc002vdv.2_Missense_Mutation_p.C450Y|C2orf67_uc002vdx.1_Missense_Mutation_p.C450Y	p.C450Y	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)	4	1557	-		Renal(323;0.202)	450					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.1349G>A	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.30|13.30	2.196285|2.196285	0.38806|0.38806	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086|ENST00000438563;ENST00000415553	.|.	.|.	.|.	5.25|5.25	3.43|3.43	0.39272|0.39272	.|.	0.279884|.	0.36665|.	N|.	0.002461|.	T|T	0.19248|0.19248	0.0462|0.0462	N|N	0.08118|0.08118	0|0	0.24838|0.24838	N|N	0.992481|0.992481	B;P;B;B|.	0.35050|.	0.098;0.482;0.422;0.422|.	B;B;B;B|.	0.31245|.	0.118;0.126;0.086;0.086|.	T|T	0.19745|0.19745	-1.0296|-1.0296	9|5	0.18710|.	T|.	0.47|.	.|.	8.8236|8.8236	0.35041|0.35041	0.0:0.7719:0.0:0.2281|0.0:0.7719:0.0:0.2281	.|.	450;450;450;450|.	A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9|.	.;.;.;CB067_HUMAN|.	Y|I	450|124;169	.|.	ENSP00000281772:C450Y|.	C|V	-|-	2|1	0|0	C2orf67|C2orf67	210677152|210677152	0.931000|0.931000	0.31567|0.31567	0.986000|0.986000	0.45419|0.45419	0.988000|0.988000	0.76386|0.76386	0.580000|0.580000	0.23803|0.23803	1.351000|1.351000	0.45789|0.45789	0.585000|0.585000	0.79938|0.79938	TGT|GTC		PASS	0.393	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		5	56	5	56	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211447414	211447414	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:211447414T>A	ENST00000233072.5	+	6	798	c.602T>A	c.(601-603)aTt>aAt	p.I201N	CPS1_ENST00000430249.2_Missense_Mutation_p.I207N	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	201	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)	p.I207N(1)|p.I201N(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAGAATTTGATTGCTGAGGTT	0.333																																						uc002vee.3																			2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(601-603)ATT>AAT		carbamoyl-phosphate synthetase 1 isoform b							129.0	131.0	130.0					2																	211447414		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211447414T>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.602T>A	2.37:g.211447414T>A	ENSP00000233072:p.Ile201Asn					CPS1_uc010fur.2_Missense_Mutation_p.I207N	p.I201N	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	6	734	+			201			Anthranilate phosphoribosyltransferase homolog.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.602T>A	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328305	0.81690	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.90261	-2.64;-2.64	5.88	5.88	0.94601	Carbamoyl-phosphate synthase, small subunit, N-terminal (1);	0.051805	0.85682	D	0.000000	D	0.88573	0.6473	L	0.47716	1.5	0.80722	D	1	P;P	0.46706	0.883;0.883	B;B	0.41646	0.362;0.362	D	0.89968	0.4091	10	0.87932	D	0	0.6829	16.2792	0.82664	0.0:0.0:0.0:1.0	.	211;201	Q59HF8;P31327	.;CPSM_HUMAN	N	207;209;201;201	ENSP00000402608:I207N;ENSP00000233072:I201N	ENSP00000233072:I201N	I	+	2	0	CPS1	211155659	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.639000	0.83342	2.243000	0.73865	0.533000	0.62120	ATT		PASS	0.333	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			6	84	6	84	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220161512	220161512	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:220161512T>C	ENST00000295718.2	-	16	2509	c.2269A>G	c.(2269-2271)Agc>Ggc	p.S757G	MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.S728G|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000423636.2_Missense_Mutation_p.S667G|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	757	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S757G(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAAGGGCTGCTCTCCACCTTC	0.607																																						uc002vkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(2269-2271)AGC>GGC		protein tyrosine phosphatase, receptor type, N							122.0	104.0	110.0					2																	220161512		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220161512T>C		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2269A>G	2.37:g.220161512T>C	ENSP00000295718:p.Ser757Gly					PTPRN_uc010zlc.1_Missense_Mutation_p.S667G|PTPRN_uc002vla.2_Missense_Mutation_p.S728G|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	p.S757G	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	16	2358	-		Renal(207;0.0474)	757			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.2269A>G	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	T	10.55	1.380656	0.24944	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	D;D;D	0.83163	-1.69;-1.69;-1.69	4.24	4.24	0.50183	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.337366	0.31082	N	0.008289	T	0.72938	0.3523	N	0.11106	0.095	0.34459	D	0.701576	P;B	0.44734	0.842;0.024	P;B	0.46419	0.516;0.022	T	0.79928	-0.1596	10	0.35671	T	0.21	.	13.1991	0.59756	0.0:0.0:0.0:1.0	.	728;757	Q6NSL1;Q16849	.;PTPRN_HUMAN	G	728;757;728;667	ENSP00000386638:S728G;ENSP00000295718:S757G;ENSP00000444244:S667G	ENSP00000295718:S757G	S	-	1	0	PTPRN	219869756	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	3.469000	0.53093	1.776000	0.52262	0.460000	0.39030	AGC		PASS	0.607	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			4	47	4	47	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220162785	220162785	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:220162785C>G	ENST00000295718.2	-	13	1949	c.1709G>C	c.(1708-1710)aGc>aCc	p.S570T	PTPRN_ENST00000409251.3_Missense_Mutation_p.S541T|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000423636.2_Missense_Mutation_p.S480T|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	570					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S570T(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGGTGAGGTGCTGTGCGCAGT	0.622																																						uc002vkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1708-1710)AGC>ACC		protein tyrosine phosphatase, receptor type, N							78.0	74.0	76.0					2																	220162785		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162785C>G		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1709G>C	2.37:g.220162785C>G	ENSP00000295718:p.Ser570Thr					PTPRN_uc010zlc.1_Missense_Mutation_p.S480T|PTPRN_uc002vla.2_Missense_Mutation_p.S541T	p.S570T	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	13	1798	-		Renal(207;0.0474)	570			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1709G>C	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	2.806	-0.248116	0.05867	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03301	3.99;3.98;3.98	4.58	4.58	0.56647	.	0.576703	0.17318	N	0.178639	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B;B	0.27264	0.173;0.001	B;B	0.20767	0.031;0.007	T	0.47368	-0.9123	10	0.13470	T	0.59	.	17.2091	0.86926	0.0:1.0:0.0:0.0	.	541;570	Q6NSL1;Q16849	.;PTPRN_HUMAN	T	541;570;541;480	ENSP00000386638:S541T;ENSP00000295718:S570T;ENSP00000444244:S480T	ENSP00000295718:S570T	S	-	2	0	PTPRN	219871029	0.006000	0.16342	0.785000	0.31869	0.163000	0.22366	1.449000	0.35123	2.386000	0.81285	0.655000	0.94253	AGC		PASS	0.622	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			11	117	11	117	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220315888	220315888	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:220315888G>T	ENST00000312358.7	+	5	2276	c.2144G>T	c.(2143-2145)gGa>gTa	p.G715V	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.G611V|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	715					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V712_P722del(1)|p.G715V(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTGTCCGCTGGAGAAGAGCCC	0.587																																						uc010fwg.2																			2	Substitution - Missense(1)|Deletion - In frame(1)	p.V712_P722del(1)	ovary(1)|lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(2143-2145)GGA>GTA		SPEG complex locus							101.0	102.0	102.0					2																	220315888		1948	4138	6086	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220315888G>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2144G>T	2.37:g.220315888G>T	ENSP00000311684:p.Gly715Val					SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'UTR	p.G715V	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	5	2144	+		Renal(207;0.0183)	715					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.2144G>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913422	0.72983	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698	T;T	0.66460	-0.21;0.11	5.43	4.54	0.55810	.	0.000000	0.41294	D	0.000919	T	0.67804	0.2932	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.63301	-0.6668	10	0.24483	T	0.36	.	13.2593	0.60097	0.0773:0.0:0.9227:0.0	.	715	Q15772	SPEG_HUMAN	V	715;715;611	ENSP00000311684:G715V;ENSP00000379926:G611V	ENSP00000265327:G715V	G	+	2	0	SPEG	220024132	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	3.701000	0.54793	2.556000	0.86216	0.655000	0.94253	GGA		PASS	0.587	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		39	169	39	169	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234365572	234365572	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr2:234365572T>A	ENST00000264057.2	+	20	2415	c.2403T>A	c.(2401-2403)taT>taA	p.Y801*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.Y757*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	801					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Y801*(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGATGTGGTATGGAGTTCTTG	0.483																																						uc002vui.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5						c.(2401-2403)TAT>TAA		diacylglycerol kinase, delta 130kDa isoform 2	Phosphatidylserine(DB00144)						143.0	142.0	142.0					2																	234365572		2203	4300	6503	SO:0001587	stop_gained	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234365572T>A	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2403T>A	2.37:g.234365572T>A	ENSP00000264057:p.Tyr801*					DGKD_uc002vuj.1_Nonsense_Mutation_p.Y757*|DGKD_uc010fyh.1_Nonsense_Mutation_p.Y668*|DGKD_uc010fyi.1_RNA	p.Y801*	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	20	2415	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	801					Q14158|Q6PK55|Q8NG53	Nonsense_Mutation	SNP	ENST00000264057.2	37	c.2403T>A	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.974738	0.92919	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	3.76	-5.91	0.02269	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.8997	0.70670	0.0:0.196:0.0:0.804	.	.	.	.	X	801;757	.	ENSP00000264057:Y801X	Y	+	3	2	DGKD	234030311	0.000000	0.05858	0.374000	0.26016	0.706000	0.40770	-2.711000	0.00817	-1.338000	0.02233	-1.144000	0.01866	TAT		PASS	0.483	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648		17	84	17	84	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1262453	1262453	+	Silent	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:1262453C>A	ENST00000446702.2	+	3	765	c.138C>A	c.(136-138)gtC>gtA	p.V46V	CNTN6_ENST00000350110.2_Silent_p.V46V|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	46	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V46V(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AATCTGAGGTCATCCTGAATT	0.403																																						uc003boz.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(136-138)GTC>GTA		contactin 6 precursor							164.0	154.0	157.0					3																	1262453		2203	4300	6503	SO:0001819	synonymous_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1262453C>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.138C>A	3.37:g.1262453C>A						CNTN6_uc010hbo.2_Silent_p.V41V|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Silent_p.V46V	p.V46V	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	3	405	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	46			Ig-like C2-type 1.		Q2KHM2	Silent	SNP	ENST00000446702.2	37	c.138C>A	CCDS2557.1																																																																																				PASS	0.403	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		24	71	24	71	---	---	---	---
ATG7	10533	broad.mit.edu	37	3	11400049	11400049	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:11400049G>A	ENST00000354449.3	+	13	1467	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q	ATG7_ENST00000354956.5_Missense_Mutation_p.R481Q|ATG7_ENST00000446450.2_Missense_Mutation_p.R442Q	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	481					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.R481Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGGAGAGCCGGTGGCTTCCT	0.517																																						uc003bwc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1441-1443)CGG>CAG		APG7 autophagy 7-like isoform a							52.0	52.0	52.0					3																	11400049		2203	4300	6503	SO:0001583	missense	10533				autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	g.chr3:11400049G>A	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1442G>A	3.37:g.11400049G>A	ENSP00000346437:p.Arg481Gln					ATG7_uc003bwd.2_Missense_Mutation_p.R481Q|ATG7_uc011aum.1_Missense_Mutation_p.R442Q	p.R481Q	NM_006395	NP_006386	O95352	ATG7_HUMAN			13	1559	+			481					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	ENST00000354449.3	37	c.1442G>A	CCDS2605.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720138	0.89205	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.15017	2.46;2.46;2.46	5.79	5.79	0.91817	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	H	0.98005	4.125	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	T	0.76898	-0.2789	10	0.87932	D	0	-21.2657	20.0263	0.97523	0.0:0.0:1.0:0.0	.	442;481;481	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	Q	442;481;481	ENSP00000412580:R442Q;ENSP00000347042:R481Q;ENSP00000346437:R481Q	ENSP00000346437:R481Q	R	+	2	0	ATG7	11375049	1.000000	0.71417	0.963000	0.40424	0.196000	0.23810	9.288000	0.96055	2.735000	0.93741	0.655000	0.94253	CGG		PASS	0.517	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		7	39	7	39	---	---	---	---
ZNF385D	79750	broad.mit.edu	37	3	21706423	21706423	+	Silent	SNP	A	A	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:21706423A>T	ENST00000281523.2	-	2	638	c.120T>A	c.(118-120)ccT>ccA	p.P40P	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	40						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P40P(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CAGTGTCAAGAGGAAAGGGAA	0.502																																						uc003cce.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|skin(2)|ovary(1)	5						c.(118-120)CCT>CCA		zinc finger protein 385D							110.0	104.0	106.0					3																	21706423		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21706423A>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.120T>A	3.37:g.21706423A>T						ZNF385D_uc010hfb.1_Intron	p.P40P	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			2	528	-			40						Silent	SNP	ENST00000281523.2	37	c.120T>A	CCDS2636.1																																																																																				PASS	0.502	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		12	56	12	56	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37365749	37365749	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:37365749G>T	ENST00000361924.2	+	14	2746	c.2372G>T	c.(2371-2373)gGg>gTg	p.G791V	GOLGA4_ENST00000356847.4_Missense_Mutation_p.G813V|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	791	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.G791V(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGTCTGAAGGGGAACTCCAG	0.433																																						uc003cgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2371-2373)GGG>GTG		golgi autoantigen, golgin subfamily a, 4							72.0	78.0	76.0					3																	37365749		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37365749G>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.2372G>T	3.37:g.37365749G>T	ENSP00000354486:p.Gly791Val					GOLGA4_uc010hgr.1_Missense_Mutation_p.G352V|GOLGA4_uc003cgw.2_Missense_Mutation_p.G813V|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.G672V	p.G791V	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			14	2676	+			791			Potential.|Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.2372G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	9.850	1.193341	0.22037	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T;T	0.21932	2.01;2.01;2.29;1.98	5.33	-1.93	0.07594	.	0.497156	0.15103	N	0.280384	T	0.12561	0.0305	L	0.47716	1.5	0.24283	N	0.995196	B;B;B;B	0.33583	0.328;0.328;0.328;0.418	B;B;B;B	0.31101	0.124;0.124;0.124;0.079	T	0.16276	-1.0408	10	0.30854	T	0.27	.	2.7295	0.05223	0.4426:0.2109:0.2525:0.094	.	791;791;813;791	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	V	791;813;352;662	ENSP00000354486:G791V;ENSP00000349305:G813V;ENSP00000403009:G352V;ENSP00000405842:G662V	ENSP00000349305:G813V	G	+	2	0	GOLGA4	37340753	0.030000	0.19436	0.232000	0.24009	0.968000	0.65278	-0.034000	0.12225	-0.325000	0.08577	0.655000	0.94253	GGG		PASS	0.433	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		24	65	24	65	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38802845	38802845	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:38802845G>A	ENST00000449082.2	-	6	720	c.721C>T	c.(721-723)Cac>Tac	p.H241Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	241					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.H241Y(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)	TTCACTGAGTGAATCAGGGCC	0.507																																						uc003ciq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(721-723)CAC>TAC		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)						76.0	72.0	74.0					3																	38802845		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38802845G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.721C>T	3.37:g.38802845G>A	ENSP00000390600:p.His241Tyr						p.H241Y	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	6	721	-			241			I.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.721C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971095	0.34754	.	.	ENSG00000185313	ENST00000449082	D	0.98362	-4.89	4.55	2.72	0.32119	Ion transport (1);	0.115098	0.64402	D	0.000010	D	0.98157	0.9391	L	0.52206	1.635	0.29023	N	0.886197	D	0.65815	0.995	D	0.63877	0.919	D	0.95761	0.8800	10	0.87932	D	0	.	15.9827	0.80125	0.0:0.0:0.7543:0.2457	.	241	Q9Y5Y9	SCNAA_HUMAN	Y	241	ENSP00000390600:H241Y	ENSP00000390600:H241Y	H	-	1	0	SCN10A	38777849	1.000000	0.71417	0.998000	0.56505	0.558000	0.35554	7.768000	0.85345	0.243000	0.21327	-0.808000	0.03180	CAC		PASS	0.507	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		17	31	17	31	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38962736	38962736	+	Silent	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:38962736G>C	ENST00000302328.3	-	6	921	c.723C>G	c.(721-723)gtC>gtG	p.V241V	SCN11A_ENST00000450244.1_Silent_p.V241V|SCN11A_ENST00000456224.3_Silent_p.V241V|SCN11A_ENST00000444237.2_Silent_p.V241V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	241					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V241V(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCCCACGATGACCTTCAGAC	0.537																																						uc011ays.1																			1	Substitution - coding silent(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(721-723)GTC>GTG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						84.0	81.0	82.0					3																	38962736		2203	4300	6503	SO:0001819	synonymous_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38962736G>C	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.723C>G	3.37:g.38962736G>C							p.V241V	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	6	922	-			241			I.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	ENST00000302328.3	37	c.723C>G	CCDS33737.1																																																																																				PASS	0.537	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		6	121	6	121	---	---	---	---
TGM4	7047	broad.mit.edu	37	3	44935188	44935188	+	Splice_Site	SNP	G	G	T	rs202190715		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:44935188G>T	ENST00000296125.4	+	5	617		c.e5+1			NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4						mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.?(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTTTGGTCAGGTAATGATTTG	0.507																																						uc003coc.3																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e5+1		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						129.0	123.0	125.0					3																	44935188		2203	4300	6503	SO:0001630	splice_region_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44935188G>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.549+1G>T	3.37:g.44935188G>T						TGM4_uc003cob.2_Splice_Site	p.Q183_splice	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	5	622	+								Q16707|Q96QN4	Splice_Site	SNP	ENST00000296125.4	37	c.549_splice	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533583	0.45073	.	.	ENSG00000163810	ENST00000296125	.	.	.	2.32	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8302	0.35080	0.1254:0.0:0.8746:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGM4	44910192	1.000000	0.71417	0.694000	0.30210	0.414000	0.31173	7.000000	0.76290	0.245000	0.21373	0.467000	0.42956	.		PASS	0.507	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	Intron	19	89	19	89	---	---	---	---
NBEAL2	23218	broad.mit.edu	37	3	47043973	47043973	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:47043973G>A	ENST00000450053.3	+	32	5443	c.5264G>A	c.(5263-5265)cGc>cAc	p.R1755H	NBEAL2_ENST00000383740.2_Missense_Mutation_p.R34H|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1571H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1755					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.R1755H(1)|p.R1132H(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGGCAGCGGCGCCAGTGGGAG	0.577																																						uc003cqp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5263-5265)CGC>CAC		neurobeachin-like 2							40.0	41.0	41.0					3																	47043973		2075	4186	6261	SO:0001583	missense	23218						binding	g.chr3:47043973G>A	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5264G>A	3.37:g.47043973G>A	ENSP00000415034:p.Arg1755His					NBEAL2_uc010hjm.1_Missense_Mutation_p.R1132H|NBEAL2_uc010hjn.1_Missense_Mutation_p.R151H|NBEAL2_uc010hjo.1_5'Flank	p.R1755H	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	32	5443	+		Acute lymphoblastic leukemia(5;0.0534)	1755					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.5264G>A	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.56|12.56	1.974809|1.974809	0.34848|0.34848	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000383740;ENST00000450053	.|T;T;T	.|0.64618	.|-0.07;0.61;-0.11	5.03|5.03	1.62|1.62	0.23740|0.23740	.|.	.|0.507855	.|0.19286	.|N	.|0.118036	T|T	0.49490|0.49490	0.1560|0.1560	L|L	0.47190|0.47190	1.495|1.495	0.38769|0.38769	D|D	0.954506|0.954506	.|B;B	.|0.18968	.|0.032;0.008	.|B;B	.|0.15870	.|0.014;0.013	T|T	0.42327|0.42327	-0.9458|-0.9458	5|10	.|0.54805	.|T	.|0.06	.|.	5.6607|5.6607	0.17667|0.17667	0.2093:0.0:0.6476:0.1431|0.2093:0.0:0.6476:0.1431	.|.	.|1571;1755	.|Q6ZNJ1-2;Q6ZNJ1	.|.;NBEL2_HUMAN	T|H	1043|1571;34;1755	.|ENSP00000292309:R1571H;ENSP00000373246:R34H;ENSP00000415034:R1755H	.|ENSP00000292309:R1571H	A|R	+|+	1|2	0|0	NBEAL2|NBEAL2	47018977|47018977	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.381000|0.381000	0.30169|0.30169	2.278000|2.278000	0.43426|0.43426	0.118000|0.118000	0.18165|0.18165	-0.131000|-0.131000	0.14894|0.14894	GCC|CGC		PASS	0.577	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		7	48	7	48	---	---	---	---
ITIH1	3697	broad.mit.edu	37	3	52820992	52820992	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:52820992C>A	ENST00000273283.2	+	14	1789	c.1765C>A	c.(1765-1767)Ctg>Atg	p.L589M	ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000537050.1_Missense_Mutation_p.L301M|ITIH1_ENST00000540715.1_Missense_Mutation_p.L447M|ITIH1_ENST00000542827.1_Missense_Mutation_p.L589M	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	589	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L589M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAGGGCCAACCTGTCATCCCA	0.602																																						uc003dfs.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1765-1767)CTG>ATG		inter-alpha (globulin) inhibitor H1							88.0	80.0	83.0					3																	52820992		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52820992C>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1765C>A	3.37:g.52820992C>A	ENSP00000273283:p.Leu589Met					ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.L190M|ITIH1_uc010hmo.1_Missense_Mutation_p.L143M|ITIH1_uc003dfu.2_5'Flank	p.L589M	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	14	1789	+			589			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.1765C>A	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040990	0.35989	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.44	-2.16	0.07080	.	0.664114	0.15778	N	0.245079	T	0.62332	0.2419	M	0.85197	2.74	0.09310	N	1	D;P;P	0.65815	0.995;0.951;0.923	D;P;P	0.76071	0.987;0.621;0.77	T	0.54043	-0.8352	10	0.72032	D	0.01	-2.8958	3.4604	0.07531	0.1064:0.3676:0.351:0.175	.	447;190;589	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	M	589;589;447;301;142	ENSP00000442584:L589M;ENSP00000273283:L589M;ENSP00000443973:L447M;ENSP00000443847:L301M;ENSP00000395836:L142M	ENSP00000273283:L589M	L	+	1	2	ITIH1	52796032	0.000000	0.05858	0.000000	0.03702	0.137000	0.21094	-0.297000	0.08276	-0.677000	0.05231	0.655000	0.94253	CTG		PASS	0.602	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		30	62	30	62	---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	66023687	66023687	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:66023687G>C	ENST00000497477.2	-	1	296	c.297C>G	c.(295-297)ttC>ttG	p.F99L	MAGI1_ENST00000402939.2_Missense_Mutation_p.F99L|MAGI1_ENST00000483466.1_Missense_Mutation_p.F99L|MAGI1_ENST00000330909.8_Missense_Mutation_p.F99L			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	99	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.F99L(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGACGGCCTTGAAGGTGACGG	0.642																																						uc003dmn.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(295-297)TTC>TTG		membrane associated guanylate kinase, WW and PDZ							66.0	77.0	73.0					3																	66023687		2193	4289	6482	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:66023687G>C	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.297C>G	3.37:g.66023687G>C	ENSP00000424369:p.Phe99Leu					MAGI1_uc003dmm.2_Missense_Mutation_p.F99L|MAGI1_uc003dmo.2_Missense_Mutation_p.F99L|MAGI1_uc003dmp.2_Missense_Mutation_p.F99L|MAGI1_uc003dmr.2_Missense_Mutation_p.F99L	p.F99L	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	1	823	-		Lung NSC(201;0.0016)	99			Guanylate kinase-like.|PDZ 1.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.297C>G		.	.	.	.	.	.	.	.	.	.	G	5.550	0.286362	0.10513	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000483466;ENST00000497477	T;T;T;T	0.13089	3.19;2.76;2.76;2.62	5.77	4.84	0.62591	PDZ/DHR/GLGF (3);Guanylate kinase (1);	0.329182	0.31484	N	0.007564	T	0.02888	0.0086	N	0.00159	-1.955	0.29282	N	0.869954	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001	T	0.20438	-1.0275	10	0.02654	T	1	-6.097	16.3901	0.83532	0.0:0.2105:0.7895:0.0	.	99;99;99;99;99	Q96QZ7;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	MAGI1_HUMAN;.;.;.;.	L	99	ENSP00000385450:F99L;ENSP00000331157:F99L;ENSP00000420323:F99L;ENSP00000424369:F99L	ENSP00000331157:F99L	F	-	3	2	MAGI1	65998727	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.569000	0.23638	2.724000	0.93272	0.655000	0.94253	TTC		PASS	0.642	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		66	179	66	179	---	---	---	---
OR5H1	26341	broad.mit.edu	37	3	97851588	97851588	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:97851588G>T	ENST00000354565.2	+	1	47	c.47G>T	c.(46-48)gGa>gTa	p.G16V	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G16V(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GTTCTCACAGGATTTTTATAT	0.403																																						uc011bgt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(46-48)GGA>GTA		olfactory receptor, family 5, subfamily H,							65.0	68.0	67.0					3																	97851588		2181	4249	6430	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851588G>T	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.47G>T	3.37:g.97851588G>T	ENSP00000346575:p.Gly16Val						p.G16V	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	47	+			16			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.47G>T	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	G	9.182	1.023861	0.19433	.	.	ENSG00000231192	ENST00000354565	T	0.00659	5.94	3.63	3.63	0.41609	.	0.000000	0.41823	D	0.000813	T	0.04998	0.0134	M	0.92738	3.34	0.19575	N	0.999968	D	0.89917	1.0	D	0.97110	1.0	T	0.08146	-1.0736	10	0.87932	D	0	.	6.8361	0.23937	0.1285:0.0:0.8714:0.0	.	16	A6NKK0	OR5H1_HUMAN	V	16	ENSP00000346575:G16V	ENSP00000346575:G16V	G	+	2	0	OR5H1	99334278	1.000000	0.71417	0.856000	0.33681	0.056000	0.15407	5.951000	0.70273	1.856000	0.53863	0.195000	0.17529	GGA		PASS	0.403	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		27	93	27	93	---	---	---	---
OR5H14	403273	broad.mit.edu	37	3	97868313	97868313	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:97868313C>A	ENST00000437310.1	+	1	144	c.84C>A	c.(82-84)ttC>ttA	p.F28L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F28L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TACCCCTGTTCCTGGCATTCT	0.423																																						uc003dsg.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(82-84)TTC>TTA		olfactory receptor, family 5, subfamily H,							86.0	90.0	89.0					3																	97868313		2202	4279	6481	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868313C>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.84C>A	3.37:g.97868313C>A	ENSP00000401706:p.Phe28Leu						p.F28L	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	84	+			28			Extracellular (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.84C>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591794	0.28357	.	.	ENSG00000236032	ENST00000437310	T	0.04454	3.62	2.49	-0.0123	0.13989	.	0.000000	0.44483	D	0.000446	T	0.11623	0.0283	M	0.82823	2.61	0.09310	N	0.999999	P	0.50943	0.94	P	0.52267	0.694	T	0.06698	-1.0812	10	0.62326	D	0.03	.	5.6938	0.17845	0.0:0.5051:0.0:0.4949	.	28	A6NHG9	O5H14_HUMAN	L	28	ENSP00000401706:F28L	ENSP00000401706:F28L	F	+	3	2	OR5H14	99351003	0.000000	0.05858	0.664000	0.29753	0.394000	0.30568	-1.060000	0.03475	-0.186000	0.10533	0.195000	0.17529	TTC		PASS	0.423	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			50	230	50	230	---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100034982	100034982	+	Silent	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:100034982T>A	ENST00000394144.4	+	16	1645	c.1638T>A	c.(1636-1638)cgT>cgA	p.R546R	TBC1D23_ENST00000475134.1_Silent_p.R409R|TBC1D23_ENST00000344949.5_Silent_p.R531R|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	546					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.R546R(1)|p.R531R(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AGCCTTACCGTGGCGTAAAGC	0.403																																						uc003dtt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|liver(1)	2						c.(1636-1638)CGT>CGA		TBC1 domain family, member 23							120.0	120.0	120.0					3																	100034982		2203	4300	6503	SO:0001819	synonymous_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100034982T>A	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1638T>A	3.37:g.100034982T>A						TBC1D23_uc003dts.2_Silent_p.R531R|TBC1D23_uc003dtu.2_5'UTR	p.R546R	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN			16	1815	+			546					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	ENST00000394144.4	37	c.1638T>A	CCDS56265.1																																																																																				PASS	0.403	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		9	81	9	81	---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100035014	100035014	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:100035014A>C	ENST00000394144.4	+	16	1677	c.1670A>C	c.(1669-1671)gAa>gCa	p.E557A	TBC1D23_ENST00000475134.1_Missense_Mutation_p.E420A|TBC1D23_ENST00000344949.5_Missense_Mutation_p.E542A|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	557					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.E542A(1)|p.E557A(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						ATTGGGGATGAAGAAGAATAC	0.433																																						uc003dtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)	2						c.(1669-1671)GAA>GCA		TBC1 domain family, member 23							110.0	110.0	110.0					3																	100035014		2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100035014A>C	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1670A>C	3.37:g.100035014A>C	ENSP00000377700:p.Glu557Ala					TBC1D23_uc003dts.2_Missense_Mutation_p.E542A|TBC1D23_uc003dtu.2_5'UTR	p.E557A	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN			16	1847	+			557					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.1670A>C	CCDS56265.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842055	0.91197	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.37584	1.19;1.19;1.21	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	L	0.55481	1.735	0.80722	D	1	D;D	0.63880	0.988;0.993	P;P	0.60789	0.76;0.879	T	0.48222	-0.9054	9	.	.	.	.	15.7141	0.77655	1.0:0.0:0.0:0.0	.	557;542	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	A	542;557;420	ENSP00000340693:E542A;ENSP00000377700:E557A;ENSP00000418059:E420A	.	E	+	2	0	TBC1D23	101517704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.595000	0.90840	2.153000	0.67306	0.533000	0.62120	GAA		PASS	0.433	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		7	66	7	66	---	---	---	---
TRAT1	50852	broad.mit.edu	37	3	108568085	108568086	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:108568085_108568086CC>AA	ENST00000295756.6	+	5	517_518	c.287_288CC>AA	c.(286-288)gCC>gAA	p.A96E	TRAT1_ENST00000426646.1_Missense_Mutation_p.A59E	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	96					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.A96D(1)|p.A96E(1)|p.A96A(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ATGCAGGAAGCCACCCCATCTG	0.376																																						uc003dxi.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(1)	1						c.(286-288)GCC>GAC|c.(286-288)GCC>GCA		T-cell receptor interacting molecule																																				SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108568085C>A|g.chr3:108568086C>A	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	Exception_encountered	3.37:g.108568085_108568086delinsAA	ENSP00000295756:p.Ala96Glu					TRAT1_uc010hpx.1_Missense_Mutation_p.A59D|TRAT1_uc010hpx.1_Silent_p.A59A	p.A96D|p.A96A	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			5	431|432	+			96			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation|Silent	SNP	ENST00000295756.6	37	c.287C>A|c.288C>A	CCDS33813.1																																																																																				PASS	0.376	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		7	60|59	7	59	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121414037	121414037	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:121414037A>G	ENST00000340645.5	-	13	5443	c.5318T>C	c.(5317-5319)cTa>cCa	p.L1773P	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L1778P	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1773					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.L1773P(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GGTGGCCTCTAGGTTAGCTTG	0.403																																						uc003eei.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(5317-5319)CTA>CCA		golgi autoantigen, golgin subfamily b,							305.0	284.0	291.0					3																	121414037		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414037A>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5318T>C	3.37:g.121414037A>G	ENSP00000341848:p.Leu1773Pro					GOLGB1_uc010hrc.2_Missense_Mutation_p.L1778P|GOLGB1_uc003eej.3_Missense_Mutation_p.L1739P|GOLGB1_uc011bjm.1_Missense_Mutation_p.L1659P|GOLGB1_uc010hrd.1_Missense_Mutation_p.L1737P	p.L1773P	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5444	-			1773			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.5318T>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	A	1.118	-0.656158	0.03480	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15372	2.43;2.43	5.8	3.4	0.38934	.	0.563282	0.14843	N	0.295178	T	0.16041	0.0386	L	0.54323	1.7	0.20563	N	0.999887	B;B;B;B	0.12630	0.003;0.003;0.006;0.002	B;B;B;B	0.16289	0.007;0.011;0.015;0.007	T	0.23119	-1.0197	10	0.35671	T	0.21	.	6.9275	0.24424	0.8046:0.0:0.1954:0.0	.	1698;1778;1778;1773	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	P	1773;1778	ENSP00000341848:L1773P;ENSP00000377275:L1778P	ENSP00000341848:L1773P	L	-	2	0	GOLGB1	122896727	0.002000	0.14202	0.014000	0.15608	0.828000	0.46876	0.789000	0.26886	0.438000	0.26450	0.460000	0.39030	CTA		PASS	0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		46	311	46	311	---	---	---	---
UMPS	7372	broad.mit.edu	37	3	124458954	124458954	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:124458954G>T	ENST00000232607.2	+	4	1172	c.1066G>T	c.(1066-1068)Gaa>Taa	p.E356*	UMPS_ENST00000538242.1_Nonsense_Mutation_p.E178*|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000536109.1_Nonsense_Mutation_p.E264*	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	356	OMPdecase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)	p.E356*(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	AGGCCTGCAAGAAGTGGGCCT	0.547																																						uc003ehl.3																			1	Substitution - Nonsense(1)		lung(1)	kidney(1)	1						c.(1066-1068)GAA>TAA		uridine monophosphate synthase							117.0	119.0	118.0					3																	124458954		2203	4300	6503	SO:0001587	stop_gained	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124458954G>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.1066G>T	3.37:g.124458954G>T	ENSP00000232607:p.Glu356*					UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Nonsense_Mutation_p.E178*|UMPS_uc011bkb.1_Nonsense_Mutation_p.E264*|UMPS_uc011bkc.1_Nonsense_Mutation_p.E178*|UMPS_uc003ehn.3_Nonsense_Mutation_p.E178*|UMPS_uc011bkd.1_Intron	p.E356*	NM_000373	NP_000364	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	4	1172	+			356			OMPdecase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Nonsense_Mutation	SNP	ENST00000232607.2	37	c.1066G>T	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	G	39	7.845670	0.98522	.	.	ENSG00000114491	ENST00000232607;ENST00000536109;ENST00000538242	.	.	.	6.17	6.17	0.99709	.	0.154623	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-28.1023	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	356;264;178	.	ENSP00000232607:E356X	E	+	1	0	UMPS	125941644	1.000000	0.71417	0.966000	0.40874	0.393000	0.30537	9.143000	0.94623	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.547	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		36	231	36	231	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134967254	134967254	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:134967254C>T	ENST00000398015.3	+	14	2963	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W	EPHB1_ENST00000493838.1_Missense_Mutation_p.R426W	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	865	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.R865W(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCAGAAGGACCGGAACAGCCG	0.592																																						uc003eqt.2																			2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2593-2595)CGG>TGG		ephrin receptor EphB1 precursor							47.0	53.0	51.0					3																	134967254		2202	4300	6502	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134967254C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2593C>T	3.37:g.134967254C>T	ENSP00000381097:p.Arg865Trp					EPHB1_uc003equ.2_Missense_Mutation_p.R426W	p.R865W	NM_004441	NP_004432	P54762	EPHB1_HUMAN			14	2813	+			865			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2593C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499924	0.96355	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.62498	0.02;0.02	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	L	0.37561	1.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74671	-0.3587	10	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	865	P54762	EPHB1_HUMAN	W	865;426	ENSP00000381097:R865W;ENSP00000419574:R426W	ENSP00000381097:R865W	R	+	1	2	EPHB1	136449944	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.628000	0.61282	2.941000	0.99782	0.655000	0.94253	CGG		PASS	0.592	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		22	75	22	75	---	---	---	---
KPNA4	3840	broad.mit.edu	37	3	160225962	160225962	+	Silent	SNP	T	T	C	rs145152566		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:160225962T>C	ENST00000334256.4	-	15	1610	c.1305A>G	c.(1303-1305)ctA>ctG	p.L435L		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	435					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.L435L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATATATTACTTAGTCCATCGA	0.363																																						uc003fdn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1303-1305)CTA>CTG		karyopherin alpha 4		T		1,4405	2.1+/-5.4	0,1,2202	132.0	127.0	129.0		1305	2.8	1.0	3	dbSNP_134	129	0,8600		0,0,4300	no	coding-synonymous	KPNA4	NM_002268.4		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		435/522	160225962	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160225962T>C	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.1305A>G	3.37:g.160225962T>C							p.L435L	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		15	1611	-			435			ARM 9.		A8K4S6|D3DNM2|O00190	Silent	SNP	ENST00000334256.4	37	c.1305A>G	CCDS3191.1																																																																																				PASS	0.363	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		9	64	9	64	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165548177	165548177	+	Silent	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:165548177T>C	ENST00000264381.3	-	2	811	c.645A>G	c.(643-645)ggA>ggG	p.G215G	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	215					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.G215G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTTTAGGATTTCCACCAAAGG	0.448																																						uc003fem.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(643-645)GGA>GGG		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						80.0	85.0	83.0					3																	165548177		2203	4300	6503	SO:0001819	synonymous_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548177T>C	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.645A>G	3.37:g.165548177T>C						BCHE_uc003fen.3_Intron	p.G215G	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	805	-			215					A8K7P8	Silent	SNP	ENST00000264381.3	37	c.645A>G	CCDS3198.1																																																																																				PASS	0.448	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			20	108	20	108	---	---	---	---
BCHE	590	broad.mit.edu	37	3	165548626	165548626	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:165548626G>T	ENST00000264381.3	-	2	362	c.196C>A	c.(196-198)Ctt>Att	p.L66I	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	66					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.L66I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AGTCTACCAAGAGGTGGCTGT	0.418																																						uc003fem.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(196-198)CTT>ATT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						112.0	107.0	109.0					3																	165548626		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548626G>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.196C>A	3.37:g.165548626G>T	ENSP00000264381:p.Leu66Ile					BCHE_uc003fen.3_Intron	p.L66I	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	356	-			66					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.196C>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	1.420	-0.573001	0.03882	.	.	ENSG00000114200	ENST00000264381	T	0.66638	-0.22	5.67	-0.331	0.12679	Carboxylesterase, type B (1);	0.339016	0.31177	N	0.008102	T	0.37972	0.1023	N	0.05574	-0.02	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07520	-1.0768	10	0.13470	T	0.59	.	9.0891	0.36598	0.0:0.2819:0.1923:0.5258	.	66	P06276	CHLE_HUMAN	I	66	ENSP00000264381:L66I	ENSP00000264381:L66I	L	-	1	0	BCHE	167031320	0.000000	0.05858	0.908000	0.35775	0.868000	0.49771	-0.689000	0.05144	0.014000	0.14944	-0.152000	0.13540	CTT		PASS	0.418	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			37	95	37	95	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167039936	167039936	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:167039936T>C	ENST00000392766.2	-	12	1292	c.952A>G	c.(952-954)Atg>Gtg	p.M318V	ZBBX_ENST00000307529.5_Missense_Mutation_p.M318V|ZBBX_ENST00000392767.2_Missense_Mutation_p.M318V|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.M289V|ZBBX_ENST00000455345.2_Missense_Mutation_p.M318V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	318						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.M318V(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTTTTCCATATAGGATAGA	0.279																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(952-954)ATG>GTG		zinc finger, B-box domain containing							62.0	59.0	60.0					3																	167039936		1785	4034	5819	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167039936T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.952A>G	3.37:g.167039936T>C	ENSP00000376519:p.Met318Val					ZBBX_uc011bpc.1_Missense_Mutation_p.M318V|ZBBX_uc003feq.2_Missense_Mutation_p.M289V	p.M318V	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			12	1275	-			318					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.952A>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	12.39	1.922220	0.33908	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.13538	2.76;2.76;2.74;2.74;2.58	5.76	2.1	0.27182	.	0.176209	0.40385	N	0.001103	T	0.13756	0.0333	M	0.65498	2.005	0.35872	D	0.828264	B;B	0.25719	0.093;0.132	B;B	0.21151	0.033;0.021	T	0.07790	-1.0754	10	0.40728	T	0.16	-2.1489	7.575	0.27931	0.0:0.2405:0.0:0.7595	.	318;318	A8MT70-2;A8MT70	.;ZBBX_HUMAN	V	318;318;318;318;289	ENSP00000376519:M318V;ENSP00000376520:M318V;ENSP00000390232:M318V;ENSP00000305065:M318V;ENSP00000376517:M289V	ENSP00000305065:M318V	M	-	1	0	ZBBX	168522630	0.913000	0.31002	0.970000	0.41538	0.892000	0.51952	0.990000	0.29642	0.471000	0.27319	0.477000	0.44152	ATG		PASS	0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		20	38	20	38	---	---	---	---
RFC4	5984	broad.mit.edu	37	3	186508170	186508170	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:186508170C>G	ENST00000392481.2	-	9	1108	c.827G>C	c.(826-828)gGa>gCa	p.G276A	RFC4_ENST00000296273.2_Missense_Mutation_p.G276A|RFC4_ENST00000433496.1_Intron|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	276					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.G276A(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AGCAAATACTCCATCAATTTT	0.418																																						uc003fqz.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5						c.(826-828)GGA>GCA		replication factor C 4							114.0	115.0	115.0					3																	186508170		2203	4300	6503	SO:0001583	missense	5984				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr3:186508170C>G		CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"""ATPases / AAA-type"""	9972	protein-coding gene	gene with protein product	"""A1 37 kDa subunit"", ""activator 1 37 kDa subunit"", ""RFC 37 kDa subunit"""	102577	"""replication factor C (activator 1) 4 (37kD)"""			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.827G>C	3.37:g.186508170C>G	ENSP00000376272:p.Gly276Ala					RFC4_uc011bsc.1_Missense_Mutation_p.G276A	p.G276A	NM_002916	NP_002907	P35249	RFC4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)	9	1050	-	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		276					B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	ENST00000392481.2	37	c.827G>C	CCDS3283.1	.	.	.	.	.	.	.	.	.	.	C	3.527	-0.096542	0.07010	.	.	ENSG00000163918	ENST00000392481;ENST00000296273;ENST00000417876	T;T;T	0.40476	1.03;1.03;1.03	5.32	4.42	0.53409	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.404011	0.31636	N	0.007316	T	0.28962	0.0719	L	0.31804	0.96	0.41661	D	0.989187	B	0.11235	0.004	B	0.17979	0.02	T	0.07424	-1.0773	10	0.08179	T	0.78	.	13.1561	0.59518	0.1611:0.8389:0.0:0.0	.	276	P35249	RFC4_HUMAN	A	276;276;51	ENSP00000376272:G276A;ENSP00000296273:G276A;ENSP00000401429:G51A	ENSP00000296273:G276A	G	-	2	0	RFC4	187990864	0.993000	0.37304	0.716000	0.30569	0.476000	0.33039	2.282000	0.43461	1.309000	0.44985	0.561000	0.74099	GGA		PASS	0.418	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344471.1	NM_002916		12	90	12	90	---	---	---	---
XXYLT1	152002	broad.mit.edu	37	3	194877236	194877236	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:194877236C>G	ENST00000310380.6	-	3	835	c.727G>C	c.(727-729)Gac>Cac	p.D243H	XXYLT1_ENST00000355729.4_Missense_Mutation_p.D40H|XXYLT1_ENST00000429994.1_Missense_Mutation_p.D97H|XXYLT1_ENST00000437101.1_Missense_Mutation_p.D40H	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	243						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)	p.D243H(1)									AGGAAACTGTCAAATTCCTCA	0.552																																						uc003fum.3																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)GAC>CAC		hypothetical protein LOC152002							74.0	78.0	77.0					3																	194877236		1928	4146	6074	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194877236C>G	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.727G>C	3.37:g.194877236C>G	ENSP00000309640:p.Asp243His					C3orf21_uc003ful.2_Missense_Mutation_p.D40H|C3orf21_uc011bsw.1_Missense_Mutation_p.D97H	p.D243H	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)	3	835	-	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		243					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.727G>C	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436931	0.43224	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000458652	T	0.48201	0.82	5.48	5.48	0.80851	.	0.256488	0.43747	D	0.000531	T	0.41143	0.1146	L	0.34521	1.04	0.51767	D	0.999933	B;B;B	0.30686	0.054;0.29;0.064	B;B;B	0.32022	0.126;0.139;0.034	T	0.26608	-1.0098	10	0.41790	T	0.15	-3.9616	16.8528	0.85998	0.0:1.0:0.0:0.0	.	97;243;40	C9JV19;Q8NBI6;Q8NBI6-2	.;XXLT1_HUMAN;.	H	243;40;40;97;97	ENSP00000309640:D243H	ENSP00000309640:D243H	D	-	1	0	C3orf21	196358525	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.192000	0.50989	2.569000	0.86673	0.563000	0.77884	GAC		PASS	0.552	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		6	110	6	110	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195492241	195492241	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr3:195492241C>G	ENST00000346145.4	-	8	1029	c.990G>C	c.(988-990)aaG>aaC	p.K330N	MUC4_ENST00000463781.3_Missense_Mutation_p.K4566N|MUC4_ENST00000349607.4_Missense_Mutation_p.K279N|MUC4_ENST00000475231.1_Missense_Mutation_p.K4514N	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1323					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.K330N(1)|p.K4566N(1)|p.K4438N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGCTGGCTCTTCAGCCACT	0.637																																						uc011bto.1																			3	Substitution - Missense(3)		lung(3)		0						c.(13312-13314)AAG>AAC		mucin 4 isoform a							42.0	40.0	41.0					3																	195492241		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195492241C>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.990G>C	3.37:g.195492241C>G	ENSP00000304207:p.Lys330Asn					MUC4_uc003fuz.2_Missense_Mutation_p.K164N|MUC4_uc003fva.2_Missense_Mutation_p.K46N|MUC4_uc003fvb.2_Missense_Mutation_p.K82N|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.K82N|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.K46N|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.K130N|MUC4_uc011bti.1_Missense_Mutation_p.K130N|MUC4_uc011btj.1_Missense_Mutation_p.K307N|MUC4_uc011btk.1_Missense_Mutation_p.K46N|MUC4_uc011btl.1_Missense_Mutation_p.K75N|MUC4_uc011btm.1_Missense_Mutation_p.K255N|MUC4_uc011btn.1_Missense_Mutation_p.K46N|MUC4_uc003fvo.2_Missense_Mutation_p.K330N|MUC4_uc003fvp.2_Missense_Mutation_p.K279N|MUC4_uc010hzu.1_Missense_Mutation_p.K1178N	p.K4438N	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	10	13774	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1323			AMOP.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.13314G>C	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	3.954	-0.011711	0.07727	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.38401	1.14;1.51;1.49;1.49	2.93	-0.229	0.13094	AMOP (2);	0.977112	0.08314	U	0.964937	T	0.24275	0.0588	L	0.41236	1.265	0.09310	N	1	B;B;B;B;B;B;B	0.25850	0.136;0.007;0.001;0.001;0.005;0.005;0.013	B;B;B;B;B;B;B	0.27170	0.077;0.009;0.002;0.002;0.004;0.004;0.008	T	0.30621	-0.9972	10	0.20519	T	0.43	-0.3514	2.725	0.05211	0.273:0.3649:0.2693:0.0928	.	4438;1323;279;330;4566;4514;1271	E7ESK3;Q99102;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;MUC4_HUMAN;.;.;.;.;.	N	279;330;4566;4514;1292	ENSP00000338109:K279N;ENSP00000304207:K330N;ENSP00000417498:K4566N;ENSP00000420243:K4514N	ENSP00000304207:K330N	K	-	3	2	MUC4	196977912	0.000000	0.05858	0.012000	0.15200	0.094000	0.18550	-1.338000	0.02655	-0.062000	0.13088	-0.512000	0.04463	AAG		PASS	0.637	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		11	73	11	73	---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69811054	69811054	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr4:69811054C>A	ENST00000251566.4	-	2	864	c.834G>T	c.(832-834)ttG>ttT	p.L278F	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	278					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L278F(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTTTACAGTGCAATCCTCCAA	0.373																																						uc003hef.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(832-834)TTG>TTT		UDP glucuronosyltransferase 2 family,							108.0	96.0	100.0					4																	69811054		2203	4299	6502	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69811054C>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.834G>T	4.37:g.69811054C>A	ENSP00000251566:p.Leu278Phe					UGT2A3_uc010ihp.1_RNA	p.L278F	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			2	865	-			278			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.834G>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	4.120	0.020505	0.08006	.	.	ENSG00000135220	ENST00000251566	T	0.63744	-0.06	3.24	-6.49	0.01890	.	0.068928	0.56097	D	0.000040	T	0.64670	0.2619	M	0.68593	2.085	0.80722	D	1	D	0.67145	0.996	D	0.70935	0.971	T	0.68780	-0.5318	10	0.54805	T	0.06	.	2.793	0.05393	0.1881:0.2402:0.4043:0.1673	.	278	Q6UWM9	UD2A3_HUMAN	F	278	ENSP00000251566:L278F	ENSP00000251566:L278F	L	-	3	2	UGT2A3	69845643	0.004000	0.15560	0.006000	0.13384	0.072000	0.16883	-1.908000	0.01587	-2.646000	0.00426	-1.579000	0.00862	TTG		PASS	0.373	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		7	47	7	47	---	---	---	---
ENAM	10117	broad.mit.edu	37	4	71509751	71509751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr4:71509751C>T	ENST00000396073.3	+	9	2889	c.2608C>T	c.(2608-2610)Cag>Tag	p.Q870*	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	870					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.Q870*(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCACCTAAGCCAGAGAGGCTC	0.473																																						uc011caw.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(2608-2610)CAG>TAG		enamelin precursor							87.0	85.0	85.0					4																	71509751		2203	4300	6503	SO:0001587	stop_gained	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509751C>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2608C>T	4.37:g.71509751C>T	ENSP00000379383:p.Gln870*						p.Q870*	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2889	+			870					Q17RI5|Q9H3D1	Nonsense_Mutation	SNP	ENST00000396073.3	37	c.2608C>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	38	6.749444	0.97809	.	.	ENSG00000132464	ENST00000396073	.	.	.	6.08	6.08	0.98989	.	0.498758	0.18658	N	0.134811	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	0.1187	16.1635	0.81734	0.0:1.0:0.0:0.0	.	.	.	.	X	870	.	ENSP00000379383:Q870X	Q	+	1	0	ENAM	71728615	0.000000	0.05858	0.024000	0.17045	0.205000	0.24178	0.585000	0.23879	2.894000	0.99253	0.655000	0.94253	CAG		PASS	0.473	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		14	63	14	63	---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72316226	72316226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr4:72316226G>T	ENST00000264485.5	+	10	1291	c.1174G>T	c.(1174-1176)Gag>Tag	p.E392*	SLC4A4_ENST00000512686.1_Nonsense_Mutation_p.E348*|SLC4A4_ENST00000340595.3_Nonsense_Mutation_p.E348*|SLC4A4_ENST00000425175.1_Nonsense_Mutation_p.E392*|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Nonsense_Mutation_p.E392*	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	392					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.E348*(1)|p.E392*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	AATTAGGATAGAGCCTCCTAA	0.428																																						uc003hfy.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|kidney(1)|skin(1)	5						c.(1174-1176)GAG>TAG		solute carrier family 4, sodium bicarbonate							71.0	67.0	69.0					4																	72316226		2203	4300	6503	SO:0001587	stop_gained	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72316226G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1174G>T	4.37:g.72316226G>T	ENSP00000264485:p.Glu392*					SLC4A4_uc010iic.2_Nonsense_Mutation_p.E392*|SLC4A4_uc010iib.2_Nonsense_Mutation_p.E392*|SLC4A4_uc003hfz.2_Nonsense_Mutation_p.E392*|SLC4A4_uc003hgc.3_Nonsense_Mutation_p.E348*|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Nonsense_Mutation_p.E270*|SLC4A4_uc003hgb.3_Nonsense_Mutation_p.E348*	p.E392*	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		10	1291	+			392			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Nonsense_Mutation	SNP	ENST00000264485.5	37	c.1174G>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	40	7.917273	0.98560	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.7612	0.96319	0.0:0.0:1.0:0.0	.	.	.	.	X	392;392;392;348;348	.	ENSP00000264485:E392X	E	+	1	0	SLC4A4	72535090	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.830000	0.99415	2.679000	0.91253	0.655000	0.94253	GAG		PASS	0.428	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		5	37	5	37	---	---	---	---
DSPP	1834	broad.mit.edu	37	4	88535380	88535380	+	Silent	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr4:88535380T>C	ENST00000282478.7	+	4	1599	c.1566T>C	c.(1564-1566)aaT>aaC	p.N522N	DSPP_ENST00000399271.1_Silent_p.N522N|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	522	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.N522N(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CAGACACTAATAATAGTGACA	0.388																																						uc003hqu.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1564-1566)AAT>AAC		dentin sialophosphoprotein preproprotein							142.0	137.0	138.0					4																	88535380		2094	4225	6319	SO:0001819	synonymous_variant	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88535380T>C	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1566T>C	4.37:g.88535380T>C							p.N522N	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	5	1686	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	522			Asp/Ser-rich.		A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	c.1566T>C	CCDS43248.1																																																																																				PASS	0.388	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		12	31	12	31	---	---	---	---
CCSER1	401145	broad.mit.edu	37	4	91549316	91549316	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr4:91549316G>T	ENST00000509176.1	+	6	2153	c.1865G>T	c.(1864-1866)aGa>aTa	p.R622I	CCSER1_ENST00000333691.8_Missense_Mutation_p.R622I|CCSER1_ENST00000432775.2_Missense_Mutation_p.R622I	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	622								p.R622I(2)|p.R624I(1)									CTGCCATTCAGACTGATGTTA	0.463																																						uc003hsv.3																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|ovary(1)	2						c.(1864-1866)AGA>ATA		KIAA1680 protein isoform 1							95.0	93.0	94.0					4																	91549316		1912	4138	6050	SO:0001583	missense	401145							g.chr4:91549316G>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1865G>T	4.37:g.91549316G>T	ENSP00000425040:p.Arg622Ile					FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.R622I	p.R622I	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			6	2205	+			622					Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.1865G>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620361	0.87460	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.58652	1.11;0.32;1.11	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	M	0.62723	1.935	0.51482	D	0.999927	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.76772	-0.2836	10	0.87932	D	0	-24.5966	19.5737	0.95432	0.0:0.0:1.0:0.0	.	622;622	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	I	622	ENSP00000425040:R622I;ENSP00000389283:R622I;ENSP00000329482:R622I	ENSP00000329482:R622I	R	+	2	0	FAM190A	91768339	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.466000	0.73543	2.799000	0.96334	0.650000	0.86243	AGA		PASS	0.463	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		19	54	19	54	---	---	---	---
ANXA5	308	broad.mit.edu	37	4	122592701	122592701	+	Splice_Site	SNP	C	C	A	rs113374737		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr4:122592701C>A	ENST00000296511.5	-	10	1007		c.e10+1		ANXA5_ENST00000501272.2_Splice_Site|ANXA5_ENST00000515017.1_Splice_Site	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5						blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)	p.?(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						AAATCACCTACCAACAGCAAG	0.383																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	uc003idu.3																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e9+1		annexin 5							131.0	120.0	123.0					4																	122592701		2203	4300	6503	SO:0001630	splice_region_variant	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122592701C>A	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.721+1G>T	4.37:g.122592701C>A						ANXA5_uc003idv.3_Splice_Site_p.V241_splice|ANXA5_uc003idw.3_Splice_Site|ANXA5_uc010inm.2_Splice_Site_p.V241_splice|ANXA5_uc010inn.2_Splice_Site_p.V181_splice|ANXA5_uc010ino.2_Splice_Site_p.V141_splice	p.V241_splice	NM_001154	NP_001145	P08758	ANXA5_HUMAN			9	791	-								D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Splice_Site	SNP	ENST00000296511.5	37	c.721_splice	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.586722	0.66105	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272;ENST00000515017	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8351	0.92159	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANXA5	122812151	1.000000	0.71417	0.999000	0.59377	0.695000	0.40330	6.252000	0.72447	2.751000	0.94390	0.650000	0.86243	.		PASS	0.383	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154	Intron	4	28	4	28	---	---	---	---
TIGD4	201798	broad.mit.edu	37	4	153690989	153690989	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr4:153690989T>A	ENST00000304337.2	-	2	1988	c.1168A>T	c.(1168-1170)Aca>Tca	p.T390S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	390						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T390S(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					TCTGCATTTGTTATGTCACTT	0.428																																						uc003imy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1168-1170)ACA>TCA		tigger transposable element derived 4							142.0	136.0	138.0					4																	153690989		2203	4300	6503	SO:0001583	missense	201798				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	g.chr4:153690989T>A	AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.1168A>T	4.37:g.153690989T>A	ENSP00000355162:p.Thr390Ser						p.T390S	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN			2	1950	-	all_hematologic(180;0.093)		390					Q96LP5	Missense_Mutation	SNP	ENST00000304337.2	37	c.1168A>T	CCDS34079.1	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.403618	0.01165	.	.	ENSG00000169989	ENST00000304337	T	0.13778	2.56	6.17	-5.02	0.02982	.	0.445205	0.18953	N	0.126635	T	0.05456	0.0144	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41142	-0.9525	10	0.09338	T	0.73	-3.5173	5.8547	0.18712	0.1205:0.5308:0.1087:0.2399	.	390	Q8IY51	TIGD4_HUMAN	S	390	ENSP00000355162:T390S	ENSP00000355162:T390S	T	-	1	0	TIGD4	153910439	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.089000	0.03376	-1.149000	0.02843	0.533000	0.62120	ACA		PASS	0.428	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365028.1	NM_145720		29	94	29	94	---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156632156	156632156	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr4:156632156C>G	ENST00000296518.7	+	6	1048	c.839C>G	c.(838-840)tCg>tGg	p.S280W	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S280W|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S280W|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S22W|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S280W|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S280W|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S280W			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	280					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.S280W(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATTCCCACATCGCTATTCTGC	0.463																																						uc003iov.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(838-840)TCG>TGG		guanylate cyclase 1, soluble, alpha 3 isoform A							104.0	98.0	100.0					4																	156632156		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156632156C>G		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.839C>G	4.37:g.156632156C>G	ENSP00000296518:p.Ser280Trp					GUCY1A3_uc003iou.2_Missense_Mutation_p.S280W|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S280W|GUCY1A3_uc003iow.2_Missense_Mutation_p.S280W|GUCY1A3_uc010iqd.2_Missense_Mutation_p.S279W|GUCY1A3_uc003iox.2_Missense_Mutation_p.S280W|GUCY1A3_uc003ioz.2_Missense_Mutation_p.S45W|GUCY1A3_uc003ioy.2_Missense_Mutation_p.S280W|GUCY1A3_uc010iqe.2_Missense_Mutation_p.S45W|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.S280W	p.S280W	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	7	1375	+	all_hematologic(180;0.24)	Renal(120;0.0854)	280					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.839C>G	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444847	0.63178	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.76	4.91	0.64330	Haem NO binding associated (1);	0.094710	0.47093	D	0.000246	D	0.93887	0.8044	M	0.75777	2.31	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	0.94420	0.7640	10	0.66056	D	0.02	.	14.9829	0.71324	0.0:0.9314:0.0:0.0686	.	280;280;280	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	W	280;280;280;280;22;280;280	ENSP00000424361:S280W;ENSP00000421493:S280W;ENSP00000426968:S280W;ENSP00000412201:S280W;ENSP00000377418:S22W;ENSP00000296518:S280W;ENSP00000426040:S280W	ENSP00000296518:S280W	S	+	2	0	GUCY1A3	156851606	1.000000	0.71417	0.039000	0.18376	0.675000	0.39556	7.203000	0.77864	1.560000	0.49568	0.643000	0.83706	TCG		PASS	0.463	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			19	78	19	78	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177081224	177081224	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr4:177081224G>T	ENST00000280190.4	+	20	2833	c.2677G>T	c.(2677-2679)Gtc>Ttc	p.V893F	WDR17_ENST00000393643.2_Missense_Mutation_p.V869F|WDR17_ENST00000507824.2_Missense_Mutation_p.V876F|WDR17_ENST00000508596.1_Missense_Mutation_p.V869F			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	893								p.V893F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GAAAAAGCTAGTCCATTTTTT	0.398																																						uc003iuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2677-2679)GTC>TTC		WD repeat domain 17 isoform 1							134.0	122.0	126.0					4																	177081224		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177081224G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2677G>T	4.37:g.177081224G>T	ENSP00000280190:p.Val893Phe					WDR17_uc003iuk.2_Missense_Mutation_p.V869F|WDR17_uc003ium.3_Missense_Mutation_p.V869F|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.V112F	p.V893F	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	20	2833	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	893					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2677G>T	CCDS3825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.78|12.78	2.039159|2.039159	0.35989|0.35989	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.61510	.|0.14;0.16;0.1	5.52|5.52	3.75|3.75	0.43078|0.43078	.|.	.|0.300009	.|0.31673	.|N	.|0.007254	T|T	0.65407|0.65407	0.2688|0.2688	M|M	0.74881|0.74881	2.28|2.28	0.48830|0.48830	D|D	0.999719|0.999719	.|P;P;P	.|0.48640	.|0.913;0.855;0.855	.|P;B;B	.|0.50617	.|0.646;0.393;0.393	T|T	0.67632|0.67632	-0.5621|-0.5621	5|10	.|0.87932	.|D	.|0	-8.1697|-8.1697	10.7355|10.7355	0.46122|0.46122	0.0711:0.1326:0.7963:0.0|0.0711:0.1326:0.7963:0.0	.|.	.|869;869;893	.|E7EP77;E7EQX0;Q8IZU2	.|.;.;WDR17_HUMAN	I|F	135|869;869;893;876	.|ENSP00000422763:V869F;ENSP00000377258:V869F;ENSP00000280190:V893F	.|ENSP00000280190:V893F	S|V	+|+	2|1	0|0	WDR17|WDR17	177318218|177318218	1.000000|1.000000	0.71417|0.71417	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	4.578000|4.578000	0.60929|0.60929	0.650000|0.650000	0.30769|0.30769	0.655000|0.655000	0.94253|0.94253	AGT|GTC		PASS	0.398	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			19	49	19	49	---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	143200	143200	+	Missense_Mutation	SNP	G	G	A	rs371569763		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:143200G>A	ENST00000283426.6	+	2	498	c.448G>A	c.(448-450)Ggc>Agc	p.G150S	Y_RNA_ENST00000362670.1_RNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	150							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G150S(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CACAGACGGCGGCAGCCTCCA	0.617																																						uc003jak.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(448-450)GGC>AGC		pleckstrin homology domain containing, family G		G	SER/GLY	0,4404		0,0,2202	96.0	116.0	109.0		448	-1.5	0.0	5		109	1,8597		0,1,4298	no	missense	PLEKHG4B	NM_052909.3	56	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	150/1272	143200	1,13001	2202	4299	6501	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:143200G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.448G>A	5.37:g.143200G>A	ENSP00000283426:p.Gly150Ser						p.G150S	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	2	498	+			150						Missense_Mutation	SNP	ENST00000283426.6	37	c.448G>A	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	8.516	0.867566	0.17250	0.0	1.16E-4	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.25912	1.77;3.02	1.77	-1.45	0.08828	.	.	.	.	.	T	0.10121	0.0248	N	0.19112	0.55	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.35001	-0.9806	9	0.07030	T	0.85	.	1.6377	0.02746	0.37:0.0:0.3318:0.2982	.	150	Q96PX9	PKH4B_HUMAN	S	150;64	ENSP00000283426:G150S;ENSP00000422493:G64S	ENSP00000283426:G150S	G	+	1	0	PLEKHG4B	196200	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.725000	0.04942	-0.366000	0.08064	0.297000	0.19635	GGC		PASS	0.617	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		38	150	38	150	---	---	---	---
SLC6A18	348932	broad.mit.edu	37	5	1238097	1238097	+	Silent	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:1238097G>T	ENST00000324642.3	+	5	777	c.654G>T	c.(652-654)ctG>ctT	p.L218L	SLC6A18_ENST00000296821.4_Silent_p.L218L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	218					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.L218L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCCTTACCTGGTCCTGACCA	0.488																																						uc003jby.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(652-654)CTG>CTT		solute carrier family 6, member 18							159.0	149.0	152.0					5																	1238097		2203	4300	6503	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1238097G>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.654G>T	5.37:g.1238097G>T							p.L218L	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		5	777	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		218			Helical; Name=5; (Potential).			Silent	SNP	ENST00000324642.3	37	c.654G>T	CCDS3860.1																																																																																				PASS	0.488	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		17	84	17	84	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5190155	5190155	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:5190155G>A	ENST00000274181.7	+	7	1257	c.1119G>A	c.(1117-1119)atG>atA	p.M373I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M373I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.M373I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTGGATTGATGGGGAAAGATG	0.532																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1117-1119)ATG>ATA		ADAM metallopeptidase with thrombospondin type 1							146.0	143.0	144.0					5																	5190155		2057	4199	6256	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5190155G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1119G>A	5.37:g.5190155G>A	ENSP00000274181:p.Met373Ile					ADAMTS16_uc003jdk.1_Missense_Mutation_p.M373I|ADAMTS16_uc003jdj.1_Missense_Mutation_p.M373I	p.M373I	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			7	1257	+			373			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1119G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982479	0.18889	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61627	0.09;0.09	5.37	4.3	0.51218	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.438058	0.25146	N	0.032784	T	0.35624	0.0938	N	0.05383	-0.06	0.38484	D	0.947802	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.003;0.002;0.004	T	0.22695	-1.0209	10	0.20046	T	0.44	.	13.884	0.63698	0.089:0.0:0.911:0.0	.	373;373;373	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	I	373	ENSP00000274181:M373I;ENSP00000421631:M373I	ENSP00000274181:M373I	M	+	3	0	ADAMTS16	5243155	0.995000	0.38212	0.998000	0.56505	0.958000	0.62258	0.512000	0.22755	2.510000	0.84645	0.650000	0.86243	ATG		PASS	0.532	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		26	129	26	129	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13885145	13885145	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:13885145T>A	ENST00000265104.4	-	19	3040	c.2936A>T	c.(2935-2937)gAg>gTg	p.E979V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	979	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E979V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCGAATGGCCTCTAGTGTATT	0.433									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2935-2937)GAG>GTG		dynein, axonemal, heavy chain 5							133.0	125.0	127.0					5																	13885145		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13885145T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2936A>T	5.37:g.13885145T>A	ENSP00000265104:p.Glu979Val						p.E979V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			19	2978	-	Lung NSC(4;0.00476)		979			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.2936A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.729916	0.89390	.	.	ENSG00000039139	ENST00000265104	T	0.26660	1.72	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	M	0.77103	2.36	0.80722	D	1	P	0.36959	0.575	B	0.39027	0.288	T	0.32587	-0.9901	10	0.72032	D	0.01	.	16.0225	0.80509	0.0:0.0:0.0:1.0	.	979	Q8TE73	DYH5_HUMAN	V	979	ENSP00000265104:E979V	ENSP00000265104:E979V	E	-	2	0	DNAH5	13938145	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	7.455000	0.80726	2.198000	0.70561	0.533000	0.62120	GAG		PASS	0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		24	123	24	123	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33662024	33662024	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:33662024G>T	ENST00000504830.1	-	6	1372	c.1037C>A	c.(1036-1038)aCc>aAc	p.T346N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T346N|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	346	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T346N(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTGTACCTGGTGAGAAGGAC	0.498										HNSCC(64;0.19)																												uc003jia.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1036-1038)ACC>AAC		ADAM metallopeptidase with thrombospondin type 1							200.0	168.0	179.0					5																	33662024		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33662024G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1037C>A	5.37:g.33662024G>T	ENSP00000422554:p.Thr346Asn	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.T346N	p.T346N	NM_030955	NP_112217	P58397	ATS12_HUMAN			6	1200	-			346			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1037C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224119	0.95139	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.90385	-2.66;-2.66	5.92	5.92	0.95590	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97704	1.0186	10	0.87932	D	0	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	346;346	P58397-3;P58397	.;ATS12_HUMAN	N	346	ENSP00000422554:T346N;ENSP00000344847:T346N	ENSP00000344847:T346N	T	-	2	0	ADAMTS12	33697781	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.779000	0.99018	2.822000	0.97130	0.650000	0.86243	ACC		PASS	0.498	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		24	86	24	86	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41061722	41061722	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:41061722G>T	ENST00000399564.4	-	6	1015	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	189								p.L189M(1)									TACCAGAACAGCATGAAGATC	0.493																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(565-567)CTG>ATG		HEAT repeat family member 7B2							175.0	168.0	170.0					5																	41061722		1930	4125	6055	SO:0001583	missense	133558						binding	g.chr5:41061722G>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.565C>A	5.37:g.41061722G>T	ENSP00000382476:p.Leu189Met						p.L189M	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			6	1055	-			189					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.565C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245196	0.22796	.	.	ENSG00000171495	ENST00000399564	T	0.05786	3.39	5.81	1.63	0.23807	Armadillo-type fold (1);	0.000000	0.45361	D	0.000370	T	0.06462	0.0166	L	0.28694	0.88	0.26845	N	0.968297	P	0.50528	0.936	P	0.50405	0.64	T	0.26224	-1.0109	10	0.30854	T	0.27	.	5.2561	0.15548	0.1686:0.0:0.609:0.2224	.	189	Q7Z745	HTRB2_HUMAN	M	189	ENSP00000382476:L189M	ENSP00000382476:L189M	L	-	1	2	HEATR7B2	41097479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.886000	0.28241	0.786000	0.33708	0.655000	0.94253	CTG		PASS	0.493	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		30	247	30	247	---	---	---	---
ARHGEF28	64283	broad.mit.edu	37	5	73163721	73163721	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:73163721C>T	ENST00000426542.2	+	18	2193	c.2173C>T	c.(2173-2175)Cca>Tca	p.P725S	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.P725S|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.P725S|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.P725S|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.P412S|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.P725S|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.P725S			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	725					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)	p.P725S(2)									TAGAGACATCCCACAGCCTGG	0.478																																						uc011csq.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2173-2175)CCA>TCA		Rho-guanine nucleotide exchange factor							107.0	100.0	102.0					5																	73163721		1938	4138	6076	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73163721C>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.2173C>T	5.37:g.73163721C>T	ENSP00000412175:p.Pro725Ser					RGNEF_uc003kcx.2_Missense_Mutation_p.P725S|RGNEF_uc010izf.2_Missense_Mutation_p.P725S|RGNEF_uc011csr.1_Missense_Mutation_p.P412S	p.P725S	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	18	2184	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	725					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.2173C>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528621	0.44969	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.09817	3.18;3.18;3.18;2.94;3.18;3.18;3.03	5.67	5.67	0.87782	.	.	.	.	.	T	0.12860	0.0312	L	0.53249	1.67	0.30090	N	0.808376	B;B;B;B	0.20671	0.047;0.022;0.006;0.005	B;B;B;B	0.16722	0.013;0.006;0.016;0.007	T	0.02294	-1.1181	9	0.36615	T	0.2	.	11.691	0.51516	0.0:0.9124:0.0:0.0876	.	412;725;725;725	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	S	725;725;725;725;725;725;412	ENSP00000296794:P725S;ENSP00000441913:P725S;ENSP00000441436:P725S;ENSP00000287898:P725S;ENSP00000411459:P725S;ENSP00000412175:P725S;ENSP00000296799:P412S	ENSP00000287898:P725S	P	+	1	0	RP11-428C6.1	73199477	0.038000	0.19896	0.361000	0.25849	0.720000	0.41350	1.230000	0.32612	2.671000	0.90904	0.585000	0.79938	CCA		PASS	0.478	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			8	55	8	55	---	---	---	---
OTP	23440	broad.mit.edu	37	5	76932928	76932928	+	Silent	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:76932928G>T	ENST00000306422.3	-	2	1303	c.165C>A	c.(163-165)gcC>gcA	p.A55A	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	55					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A55A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GCAGCAGAGTGGCTCCCTCCA	0.731																																						uc003kfg.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(163-165)GCC>GCA		orthopedia homeobox							13.0	17.0	15.0					5																	76932928		2200	4297	6497	SO:0001819	synonymous_variant	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76932928G>T		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.165C>A	5.37:g.76932928G>T							p.A55A	NM_032109	NP_115485	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	313	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	55						Silent	SNP	ENST00000306422.3	37	c.165C>A	CCDS4039.1																																																																																				PASS	0.731	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			6	16	6	16	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86674274	86674274	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:86674274G>A	ENST00000274376.6	+	18	2970	c.2406G>A	c.(2404-2406)atG>atA	p.M802I	RASA1_ENST00000506290.1_Missense_Mutation_p.M636I|RASA1_ENST00000456692.2_Missense_Mutation_p.M625I|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.M635I	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	802	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.M625I(1)|p.M802I(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGCAGTATATGAAAGCCACTG	0.353																																						uc003kiw.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2404-2406)ATG>ATA		RAS p21 protein activator 1 isoform 1							112.0	104.0	107.0					5																	86674274		2203	4300	6503	SO:0001583	missense	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86674274G>A		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2406G>A	5.37:g.86674274G>A	ENSP00000274376:p.Met802Ile					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.M625I|RASA1_uc011ctv.1_Missense_Mutation_p.M635I|RASA1_uc011ctw.1_Missense_Mutation_p.M636I|RASA1_uc010jaw.2_Missense_Mutation_p.M624I	p.M802I	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	18	2524	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	802			Ras-GAP.		B2R6W3|Q9UDI1	Missense_Mutation	SNP	ENST00000274376.6	37	c.2406G>A	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129346	0.94473	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.36	5.36	0.76844	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.91686	0.7372	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999	D	0.92678	0.6156	10	0.72032	D	0.01	.	19.4651	0.94934	0.0:0.0:1.0:0.0	.	636;635;636;625;802	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	I	802;835;625;635;636	ENSP00000274376:M802I;ENSP00000411221:M625I;ENSP00000422008:M635I;ENSP00000420905:M636I	ENSP00000274376:M802I	M	+	3	0	RASA1	86710030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.671000	0.90904	0.655000	0.94253	ATG		PASS	0.353	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		14	55	14	55	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89953848	89953848	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:89953848C>T	ENST00000405460.2	+	21	4601	c.4505C>T	c.(4504-4506)cCc>cTc	p.P1502L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1502	Calx-beta 10. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.P1502L(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATGCCATGCCCGCAAAAAGT	0.413																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(4504-4506)CCC>CTC		G protein-coupled receptor 98 precursor							105.0	107.0	106.0					5																	89953848		1884	4100	5984	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89953848C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4505C>T	5.37:g.89953848C>T	ENSP00000384582:p.Pro1502Leu					GPR98_uc003kjt.2_5'UTR	p.P1502L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	21	4601	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1502			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.4505C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098111	0.76870	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.26660	1.72	5.86	5.86	0.93980	Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.44414	0.1292	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.30966	-0.9960	10	0.87932	D	0	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	1502	Q8WXG9	GPR98_HUMAN	L	1502	ENSP00000384582:P1502L	ENSP00000296619:P1502L	P	+	2	0	GPR98	89989604	1.000000	0.71417	0.997000	0.53966	0.180000	0.23129	7.590000	0.82653	2.776000	0.95493	0.655000	0.94253	CCC		PASS	0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		16	75	16	75	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140216232	140216232	+	Missense_Mutation	SNP	G	G	A	rs368032433		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:140216232G>A	ENST00000525929.1	+	1	2264	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R755Q	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	755					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R755Q(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGGCGGCAGAGGGTG	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2263-2265)CGG>CAG		protocadherin alpha 7 isoform 1 precursor							49.0	49.0	49.0					5																	140216232		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140216232G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2264G>A	5.37:g.140216232G>A	ENSP00000436426:p.Arg755Gln					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R755Q	p.R755Q	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2264	+			755			Cytoplasmic (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.2264G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	9.601	1.128708	0.21041	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.14022	2.54;2.54	3.66	1.86	0.25419	.	0.000000	0.29239	U	0.012740	T	0.09642	0.0237	L	0.38175	1.15	0.09310	N	1	B;B	0.23377	0.084;0.029	B;B	0.18561	0.022;0.01	T	0.24621	-1.0155	10	0.37606	T	0.19	.	7.1926	0.25834	0.2807:0.0:0.7193:0.0	.	755;755	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	Q	755	ENSP00000436426:R755Q;ENSP00000367365:R755Q	ENSP00000367365:R755Q	R	+	2	0	PCDHA7	140196416	0.005000	0.15991	0.318000	0.25279	0.714000	0.41099	1.063000	0.30567	0.339000	0.23719	0.455000	0.32223	CGG		PASS	0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		10	50	10	50	---	---	---	---
EBF1	1879	broad.mit.edu	37	5	158141190	158141190	+	Splice_Site	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:158141190C>A	ENST00000313708.6	-	12	1408	c.1126G>T	c.(1126-1128)Gaa>Taa	p.E376*	EBF1_ENST00000517373.1_Splice_Site_p.E368*|EBF1_ENST00000380654.4_Splice_Site_p.E345*|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	376					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E376*(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTATTACTTCCTGTCAAGAG	0.488			T	HMGA2	lipoma																																	uc010jip.2				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	1	Substitution - Nonsense(1)		lung(1)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(1126-1128)GAA>TAA		early B-cell factor							201.0	192.0	195.0					5																	158141190		2203	4300	6503	SO:0001630	splice_region_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158141190C>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1126-1G>T	5.37:g.158141190C>A						EBF1_uc011ddw.1_Nonsense_Mutation_p.E244*|EBF1_uc011ddx.1_Nonsense_Mutation_p.E377*|EBF1_uc003lxl.3_Nonsense_Mutation_p.E345*	p.E376*	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	1428	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	376					Q8IW11	Nonsense_Mutation	SNP	ENST00000313708.6	37	c.1126G>T	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	C	38	7.272802	0.98179	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-4.5179	19.7405	0.96228	0.0:1.0:0.0:0.0	.	.	.	.	X	376;376;345;368	.	ENSP00000322898:E376X	E	-	1	0	EBF1	158073768	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.711000	0.84669	2.655000	0.90218	0.655000	0.94253	GAA		PASS	0.488	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007	Nonsense_Mutation	28	122	28	122	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160031014	160031014	+	Silent	SNP	A	A	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:160031014A>T	ENST00000327245.5	-	20	4041	c.3195T>A	c.(3193-3195)gcT>gcA	p.A1065A		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1065					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A1065A(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAATATCAGCAGCTTGAATCA	0.403																																						uc003lym.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3193-3195)GCT>GCA		ATPase, class V, type 10B							217.0	214.0	215.0					5																	160031014		1988	4186	6174	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160031014A>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3195T>A	5.37:g.160031014A>T						ATP10B_uc010jit.1_Silent_p.A382A	p.A1065A	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		20	4042	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1065			Cytoplasmic (Potential).		Q9H725	Silent	SNP	ENST00000327245.5	37	c.3195T>A	CCDS43394.1																																																																																				PASS	0.403	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		14	72	14	72	---	---	---	---
LMAN2	10960	broad.mit.edu	37	5	176759097	176759097	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr5:176759097C>A	ENST00000303127.7	-	8	1265	c.1061G>T	c.(1060-1062)cGc>cTc	p.R354L	LMAN2_ENST00000515209.1_3'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	354					positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.R354L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGTAGAAGCGCTTGTTCCG	0.597																																						uc003mge.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1060-1062)CGC>CTC		lectin, mannose-binding 2 precursor							20.0	26.0	24.0					5																	176759097		2203	4297	6500	SO:0001583	missense	10960				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding	g.chr5:176759097C>A	U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"""chromosome 5 open reading frame 8"""	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.1061G>T	5.37:g.176759097C>A	ENSP00000303366:p.Arg354Leu					LMAN2_uc003mgd.2_3'UTR	p.R354L	NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1298	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	354			Cytoplasmic (Potential).		Q53HH1	Missense_Mutation	SNP	ENST00000303127.7	37	c.1061G>T	CCDS4417.1	.	.	.	.	.	.	.	.	.	.	C	35	5.538373	0.96460	.	.	ENSG00000169223	ENST00000303127;ENST00000539488	T	0.72394	-0.65	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.81802	2.56	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	D	0.87075	0.2162	10	0.87932	D	0	-6.3756	18.475	0.90790	0.0:1.0:0.0:0.0	.	354	Q12907	LMAN2_HUMAN	L	354;283	ENSP00000303366:R354L	ENSP00000303366:R354L	R	-	2	0	LMAN2	176691703	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.456000	0.83038	0.655000	0.94253	CGC		PASS	0.597	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253434.1	NM_006816		5	29	5	29	---	---	---	---
SIRT5	23408	broad.mit.edu	37	6	13592056	13592056	+	Silent	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:13592056C>T	ENST00000606117.1	+	5	701	c.405C>T	c.(403-405)gtC>gtT	p.V135V	SIRT5_ENST00000359782.3_Silent_p.V135V|SIRT5_ENST00000379262.4_Silent_p.V135V|SIRT5_ENST00000397350.2_Silent_p.V27V	NM_012241.4	NP_036373.1			sirtuin 5									p.V135V(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GCCGGCGAGTCGTGGTCATCA	0.647																																						uc003nay.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)	3						c.(403-405)GTC>GTT		sirtuin 5 isoform 1	Suramin(DB04786)						47.0	46.0	46.0					6																	13592056		2203	4300	6503	SO:0001819	synonymous_variant	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13592056C>T	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.405C>T	6.37:g.13592056C>T						SIRT5_uc003naw.2_Silent_p.V135V|SIRT5_uc003nax.2_Silent_p.V27V|SIRT5_uc011dit.1_Silent_p.V135V	p.V135V	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		5	701	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	135			Deacetylase sirtuin-type.			Silent	SNP	ENST00000606117.1	37	c.405C>T	CCDS4526.1																																																																																				PASS	0.647	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			12	35	12	35	---	---	---	---
HIST1H3A	8350	broad.mit.edu	37	6	26020744	26020744	+	Silent	SNP	G	G	T	rs140398034		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:26020744G>T	ENST00000357647.3	+	1	27	c.27G>T	c.(25-27)cgG>cgT	p.R9R	HIST1H1A_ENST00000244573.3_5'Flank|HIST1H4A_ENST00000359907.3_5'Flank	NM_003529.2	NP_003520.1	P68431	H31_HUMAN	histone cluster 1, H3a	9					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R9R(1)		endometrium(1)|lung(3)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AAACTGCTCGGAAGTCTACTG	0.572																																						uc003nfp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(25-27)CGG>CGT		histone cluster 1, H3a							62.0	59.0	60.0					6																	26020744		2203	4299	6502	SO:0001819	synonymous_variant	8350				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26020744G>T	Z46261	CCDS4570.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000198366	ENSG00000275714		"""Histones / Replication-dependent"""	4766	protein-coding gene	gene with protein product		602810	"""H3 histone family, member A"", ""histone 1, H3a"""	H3FA		9119399, 12408966	Standard	NM_003529		Approved	H3/A	uc003nfp.1	P68431	OTTHUMG00000014418	ENST00000357647.3:c.27G>T	6.37:g.26020744G>T						HIST1H1A_uc003nfo.2_5'Flank|HIST1H4A_uc003nfq.2_5'Flank	p.R9R	NM_003529	NP_003520	P68431	H31_HUMAN			1	27	+			9					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000357647.3	37	c.27G>T	CCDS4570.1																																																																																				PASS	0.572	HIST1H3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040080.1	NM_003529		9	46	9	46	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29574954	29574954	+	Silent	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:29574954G>A	ENST00000377034.4	-	17	2369	c.2034C>T	c.(2032-2034)taC>taT	p.Y678Y	GABBR1_ENST00000377016.4_Silent_p.Y616Y|GABBR1_ENST00000377012.4_Silent_p.Y561Y|GABBR1_ENST00000355973.3_Silent_p.Y561Y|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	678					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.Y678Y(2)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ACATGGAACCGTAGCCCAGAC	0.562																																						uc003nmt.3																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|liver(1)|skin(1)	7						c.(2032-2034)TAC>TAT		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						92.0	89.0	90.0					6																	29574954		2203	4300	6503	SO:0001819	synonymous_variant	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29574954G>A	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2034C>T	6.37:g.29574954G>A						GABBR1_uc003nmp.3_Silent_p.Y561Y|GABBR1_uc003nms.3_Silent_p.Y561Y|GABBR1_uc003nmu.3_Silent_p.Y616Y|GABBR1_uc011dlr.1_Silent_p.Y501Y	p.Y678Y	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			17	2370	-			678			Helical; Name=3; (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	ENST00000377034.4	37	c.2034C>T	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	g	5.206	0.223444	0.09863	.	.	ENSG00000204681	ENST00000485026	.	.	.	4.57	-2.31	0.06765	.	.	.	.	.	T	0.39436	0.1078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44498	-0.9324	4	.	.	.	-16.7265	9.5377	0.39233	0.5651:0.0:0.4349:0.0	.	.	.	.	W	59	.	.	R	-	1	2	GABBR1	29682933	0.435000	0.25577	0.994000	0.49952	0.617000	0.37484	-0.238000	0.08977	-0.462000	0.06984	-1.320000	0.01293	CGG		PASS	0.562	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			25	68	25	68	---	---	---	---
LEMD2	221496	broad.mit.edu	37	6	33756175	33756175	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:33756175T>A	ENST00000293760.5	-	1	738	c.719A>T	c.(718-720)cAg>cTg	p.Q240L	LEMD2_ENST00000508327.1_5'Flank	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	240					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)		p.Q240L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTCCGCCTCCTGCGGCGCTGA	0.706																																						uc011drm.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(718-720)CAG>CTG		LEM domain containing 2 isoform 1							7.0	7.0	7.0					6																	33756175		2139	4202	6341	SO:0001583	missense	221496					integral to nuclear inner membrane		g.chr6:33756175T>A		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.719A>T	6.37:g.33756175T>A	ENSP00000293760:p.Gln240Leu					LEMD2_uc011drl.1_5'Flank|LEMD2_uc003ofe.2_Intron	p.Q240L	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN			1	732	-			240					B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	c.719A>T	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.3|20.3	3.970274|3.970274	0.74246|0.74246	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000293760|ENST00000442696	.|.	.|.	.|.	3.98|3.98	2.81|2.81	0.32909|0.32909	.|.	0.348404|.	0.20727|.	U|.	0.086797|.	T|T	0.23330|0.23330	0.0564|0.0564	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	P|.	0.47409|.	0.895|.	B|.	0.38056|.	0.264|.	T|T	0.04165|0.04165	-1.0972|-1.0972	9|5	0.38643|.	T|.	0.18|.	-10.3849|-10.3849	7.8706|7.8706	0.29563|0.29563	0.0:0.0972:0.0:0.9028|0.0:0.0972:0.0:0.9028	.|.	240|.	Q8NC56|.	LEMD2_HUMAN|.	L|W	240|145	.|.	ENSP00000293760:Q240L|.	Q|R	-|-	2|1	0|2	LEMD2|LEMD2	33864153|33864153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	1.891000|1.891000	0.39738|0.39738	0.590000|0.590000	0.29694|0.29694	0.260000|0.260000	0.18958|0.18958	CAG|AGG		PASS	0.706	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		3	9	3	9	---	---	---	---
TREM1	54210	broad.mit.edu	37	6	41250247	41250247	+	Missense_Mutation	SNP	C	C	A	rs565216476		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:41250247C>A	ENST00000244709.4	-	2	355	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F	TREM1_ENST00000591620.1_Missense_Mutation_p.V98F|TREM1_ENST00000589614.1_Missense_Mutation_p.V98F|TREM1_ENST00000334475.6_Missense_Mutation_p.V98F	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	98	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.V98F(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACCATTCGGACGCGCAGTAAA	0.507																																						uc003oqf.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(292-294)GTC>TTC		triggering receptor expressed on myeloid cells 1	Glutathione(DB00143)						120.0	89.0	100.0					6																	41250247		2203	4300	6503	SO:0001583	missense	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41250247C>A	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.292G>T	6.37:g.41250247C>A	ENSP00000244709:p.Val98Phe					TREM1_uc003oqg.1_Missense_Mutation_p.V98F	p.V98F	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN			2	356	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		98			Extracellular (Potential).|Ig-like V-type.		B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	ENST00000244709.4	37	c.292G>T	CCDS4854.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431583	0.43122	.	.	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.24723	1.84;1.84	4.37	3.5	0.40072	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.189883	0.26032	N	0.026757	T	0.38026	0.1025	M	0.85945	2.785	0.09310	N	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.20638	-1.0269	10	0.87932	D	0	-25.1012	8.3687	0.32402	0.0:0.8925:0.0:0.1075	.	98;98	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	F	98	ENSP00000244709:V98F;ENSP00000334284:V98F	ENSP00000244709:V98F	V	-	1	0	TREM1	41358225	0.264000	0.24093	0.039000	0.18376	0.002000	0.02628	0.832000	0.27490	1.209000	0.43321	0.591000	0.81541	GTC		PASS	0.507	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		6	94	6	94	---	---	---	---
ENPP4	22875	broad.mit.edu	37	6	46111159	46111159	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:46111159C>G	ENST00000321037.4	+	4	1374	c.1144C>G	c.(1144-1146)Cca>Gca	p.P382A		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	382					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.P382A(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GGGATTAAAACCACATCCCAA	0.438																																						uc003oxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1144-1146)CCA>GCA		ectonucleotide pyrophosphatase/phosphodiesterase							155.0	143.0	147.0					6																	46111159		2203	4299	6502	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46111159C>G	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.1144C>G	6.37:g.46111159C>G	ENSP00000318066:p.Pro382Ala						p.P382A	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			4	1403	+			382			Extracellular (Potential).		A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.1144C>G	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	C	9.689	1.151396	0.21371	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.76578	-1.03	5.7	5.7	0.88788	.	0.206014	0.51477	D	0.000085	T	0.61714	0.2369	L	0.46567	1.45	0.46981	D	0.999275	B	0.11235	0.004	B	0.14023	0.01	T	0.58434	-0.7637	10	0.32370	T	0.25	-12.4906	15.3353	0.74247	0.0:0.861:0.139:0.0	.	382	Q9Y6X5	ENPP4_HUMAN	A	382	ENSP00000318066:P382A	ENSP00000318066:P382A	P	+	1	0	ENPP4	46219118	0.319000	0.24607	1.000000	0.80357	0.879000	0.50718	1.290000	0.33319	2.683000	0.91414	0.655000	0.94253	CCA		PASS	0.438	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			12	196	12	196	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51948026	51948026	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:51948026G>T	ENST00000371117.3	-	3	355	c.80C>A	c.(79-81)cCt>cAt	p.P27H	PKHD1_ENST00000340994.4_Missense_Mutation_p.P27H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	27	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.P27H(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCTTCTTCAGGTTCAATATG	0.393																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(79-81)CCT>CAT		fibrocystin isoform 1							131.0	110.0	117.0					6																	51948026		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51948026G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.80C>A	6.37:g.51948026G>T	ENSP00000360158:p.Pro27His					PKHD1_uc003pai.2_Missense_Mutation_p.P27H	p.P27H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			3	356	-	Lung NSC(77;0.0605)		27			Extracellular (Potential).|IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.80C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884245	0.72410	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.96830	-3.92;-4.14	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000009	D	0.97470	0.9172	M	0.65498	2.005	0.35823	D	0.824752	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.981	D	0.99342	1.0912	10	0.87932	D	0	.	16.5687	0.84605	0.0:0.0:1.0:0.0	.	27;27	P08F94-2;P08F94	.;PKHD1_HUMAN	H	27	ENSP00000360158:P27H;ENSP00000341097:P27H	ENSP00000341097:P27H	P	-	2	0	PKHD1	52055985	1.000000	0.71417	0.833000	0.33012	0.827000	0.46813	5.608000	0.67654	2.605000	0.88082	0.563000	0.77884	CCT		PASS	0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		28	57	28	57	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66063359	66063359	+	Missense_Mutation	SNP	C	C	A	rs372391247		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:66063359C>A	ENST00000370621.3	-	9	1977	c.1451G>T	c.(1450-1452)gGa>gTa	p.G484V	EYS_ENST00000503581.1_Missense_Mutation_p.G484V|EYS_ENST00000370616.2_Missense_Mutation_p.G484V|EYS_ENST00000393380.2_Missense_Mutation_p.G484V|EYS_ENST00000342421.5_Missense_Mutation_p.G484V|EYS_ENST00000370618.3_Missense_Mutation_p.G484V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	484					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G484V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACCTGCAAATCCCAATTGCCA	0.338																																						uc011dxu.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)|skin(1)	6						c.(1450-1452)GGA>GTA		eyes shut homolog isoform 1							77.0	74.0	75.0					6																	66063359		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063359C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1451G>T	6.37:g.66063359C>A	ENSP00000359655:p.Gly484Val					EYS_uc003peq.2_Missense_Mutation_p.G484V|EYS_uc003per.1_Missense_Mutation_p.G484V	p.G484V	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			9	1989	-			484					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1451G>T		.	.	.	.	.	.	.	.	.	.	c	10.07	1.249894	0.22880	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	4.14	-2.27	0.06846	.	.	.	.	.	T	0.06508	0.0167	L	0.42245	1.32	0.09310	N	1	B;P;P	0.38677	0.386;0.642;0.51	B;B;B	0.34652	0.116;0.187;0.131	T	0.19516	-1.0303	9	0.66056	D	0.02	.	4.4817	0.11771	0.1521:0.3823:0.0:0.4656	.	484;484;484	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	484	ENSP00000424243:G484V;ENSP00000359655:G484V;ENSP00000359650:G484V;ENSP00000377042:G484V;ENSP00000341818:G484V;ENSP00000359652:G484V	ENSP00000341818:G484V	G	-	2	0	EYS	66120080	0.000000	0.05858	0.000000	0.03702	0.296000	0.27459	-1.418000	0.02462	-0.714000	0.04975	0.591000	0.81541	GGA		PASS	0.338	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		9	55	9	55	---	---	---	---
DPPA5	340168	broad.mit.edu	37	6	74063882	74063882	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:74063882G>C	ENST00000370370.3	-	1	136	c.67C>G	c.(67-69)Cca>Gca	p.P23A		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	23	KH; atypical.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.P23A(1)		NS(1)|endometrium(1)|lung(5)	7						AACACCTCTGGATCTTTCAGG	0.607																																						uc003pgs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(67-69)CCA>GCA		developmental pluripotency associated 5							76.0	70.0	72.0					6																	74063882		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063882G>C		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.67C>G	6.37:g.74063882G>C	ENSP00000359396:p.Pro23Ala						p.P23A	NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN			1	72	-			23			KH; atypical.		B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.67C>G	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862347	0.32884	.	.	ENSG00000203909	ENST00000370370	T	0.20598	2.06	3.7	2.82	0.32997	K Homology (1);	0.000000	0.48767	D	0.000165	T	0.17662	0.0424	M	0.66939	2.045	0.09310	N	1	D	0.56035	0.974	P	0.53518	0.728	T	0.02639	-1.1130	10	0.72032	D	0.01	.	7.0402	0.25015	0.1231:0.0:0.8769:0.0	.	23	A6NC42	DPPA5_HUMAN	A	23	ENSP00000359396:P23A	ENSP00000359396:P23A	P	-	1	0	DPPA5	74120603	0.655000	0.27376	0.077000	0.20336	0.044000	0.14063	2.581000	0.46077	1.162000	0.42619	0.485000	0.47835	CCA		PASS	0.607	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		10	93	10	93	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446855	85446855	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:85446855C>A	ENST00000369663.5	-	8	1709	c.1372G>T	c.(1372-1374)Gtg>Ttg	p.V458L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	458					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.V458L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTCACGCCCACATAGGAGGGA	0.587																																						uc003pkl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(1372-1374)GTG>TTG		T-box 18							98.0	91.0	93.0					6																	85446855		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446855C>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1372G>T	6.37:g.85446855C>A	ENSP00000358677:p.Val458Leu					TBX18_uc010kbq.1_Intron	p.V458L	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1372	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	458					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1372G>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769982	0.49680	.	.	ENSG00000112837	ENST00000369663	D	0.87412	-2.25	5.48	5.48	0.80851	.	0.065194	0.64402	D	0.000010	T	0.73156	0.3551	L	0.27053	0.805	0.48901	D	0.999722	P	0.37663	0.604	B	0.38803	0.282	T	0.74777	-0.3550	10	0.11794	T	0.64	.	19.3305	0.94285	0.0:1.0:0.0:0.0	.	458	O95935	TBX18_HUMAN	L	458	ENSP00000358677:V458L	ENSP00000358677:V458L	V	-	1	0	TBX18	85503574	1.000000	0.71417	0.997000	0.53966	0.833000	0.47200	6.474000	0.73578	2.571000	0.86741	0.585000	0.79938	GTG		PASS	0.587	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		22	115	22	115	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86332363	86332363	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:86332363T>G	ENST00000369622.3	-	8	1345	c.845A>C	c.(844-846)aAg>aCg	p.K282T	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.K282T	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	282	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K282T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTTTTTTTTCTTGTCATCCGG	0.418																																						uc003pla.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(844-846)AAG>ACG		synaptotagmin binding, cytoplasmic RNA							105.0	109.0	108.0					6																	86332363		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86332363T>G	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.845A>C	6.37:g.86332363T>G	ENSP00000358635:p.Lys282Thr					SYNCRIP_uc003pku.2_Missense_Mutation_p.K282T|SYNCRIP_uc003pkw.2_Missense_Mutation_p.K282T|SYNCRIP_uc003pky.2_Missense_Mutation_p.K184T|SYNCRIP_uc003pkv.2_Missense_Mutation_p.K282T|SYNCRIP_uc003pkx.2_Missense_Mutation_p.K130T|SYNCRIP_uc003pkz.2_Missense_Mutation_p.K282T	p.K282T	NM_006372	NP_006363	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	8	1386	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	282			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.845A>C	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.936719	0.92458	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.11712	2.75;2.75	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	N	0.25060	0.705	0.80722	D	1	P;D;D;B;D;D;D	0.76494	0.778;0.996;0.975;0.136;0.999;0.963;0.987	P;D;P;P;D;P;D	0.78314	0.643;0.958;0.823;0.447;0.991;0.792;0.919	T	0.07252	-1.0782	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	282;282;184;130;282;282;282	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	T	282	ENSP00000347380:K282T;ENSP00000358635:K282T	ENSP00000347380:K282T	K	-	2	0	SYNCRIP	86389082	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.961000	0.87903	2.279000	0.76181	0.533000	0.62120	AAG		PASS	0.418	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		23	134	23	134	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87964863	87964863	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:87964863G>T	ENST00000369577.3	+	8	1559	c.1516G>T	c.(1516-1518)Ggc>Tgc	p.G506C	ZNF292_ENST00000339907.4_Missense_Mutation_p.G501C	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	506						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G506C(1)|p.G361C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGCTAATTCTGGCCTTCTTAA	0.388																																						uc003plm.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1516-1518)GGC>TGC		zinc finger protein 292							107.0	101.0	103.0					6																	87964863		1874	4105	5979	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964863G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1516G>T	6.37:g.87964863G>T	ENSP00000358590:p.Gly506Cys						p.G506C	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1557	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	506					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.1516G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262203	0.39995	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.36520	1.25;1.25	5.87	2.73	0.32206	.	0.184033	0.64402	D	0.000016	T	0.09905	0.0243	N	0.08118	0	0.80722	D	1	D	0.52996	0.957	P	0.45913	0.497	T	0.05289	-1.0894	10	0.56958	D	0.05	.	5.4602	0.16612	0.5235:0.0:0.4765:0.0	.	506	O60281	ZN292_HUMAN	C	506;501	ENSP00000358590:G506C;ENSP00000342847:G501C	ENSP00000342847:G501C	G	+	1	0	ZNF292	88021582	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	2.712000	0.47186	0.805000	0.34159	-0.145000	0.13849	GGC		PASS	0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		7	45	7	45	---	---	---	---
ORC3	23595	broad.mit.edu	37	6	88311521	88311521	+	Silent	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:88311521G>T	ENST00000392844.3	+	3	147	c.99G>T	c.(97-99)ggG>ggT	p.G33G	ORC3_ENST00000546266.1_Intron|ORC3_ENST00000417380.2_5'UTR|ORC3_ENST00000257789.4_Silent_p.G33G	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	33					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)	p.G33G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TTAACAAAGGGAAAAATGAGC	0.303																																						uc003pmh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(97-99)GGG>GGT		origin recognition complex, subunit 3 isoform 2							61.0	64.0	63.0					6																	88311521		2203	4300	6503	SO:0001819	synonymous_variant	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88311521G>T	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.99G>T	6.37:g.88311521G>T						ORC3L_uc011dzl.1_Silent_p.G33G|ORC3L_uc011dzm.1_Silent_p.G33G|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Silent_p.G33G|ORC3L_uc003pmi.2_Silent_p.G33G|ORC3L_uc011dzo.1_Intron|ORC3L_uc011dzp.1_Intron	p.G33G	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0469)	3	143	+		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)	33					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	ENST00000392844.3	37	c.99G>T	CCDS43486.1																																																																																				PASS	0.303	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			6	31	6	31	---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	rs149245573		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	343					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A343V(3)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GTTGACAGCCGCATACTCCAG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		20743	0.0		0.001	False		,,,				2504	0.0					uc003pnb.2																			3	Substitution - Missense(3)		prostate(2)|lung(1)		0						c.(1102-1104)GCG>GTG		gamma-aminobutyric acid (GABA) receptor, rho 2							116.0	88.0	97.0					6																	89974189		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89974189G>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1028C>T	6.37:g.89974189G>A	ENSP00000386029:p.Ala343Val					GABRR2_uc011dzx.1_Missense_Mutation_p.A244V	p.A368V	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	8	1111	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	368			Helical; (Potential).		A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1103C>T	CCDS5020.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.780845	0.96929	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81116	-0.1079	8	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	368	P28476	GBRR2_HUMAN	V	368	.	.	A	-	2	0	GABRR2	90030908	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCG		PASS	0.597	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			3	55	3	55	---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	89974291	89974291	+	Missense_Mutation	SNP	G	G	T	rs530768090		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:89974291G>T	ENST00000402938.3	-	8	1059	c.926C>A	c.(925-927)aCg>aAg	p.T309K	GABRR2_ENST00000602399.1_Missense_Mutation_p.T334K	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	309					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T309K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ATTCACGCCCGTGATGATGGT	0.567																																						uc003pnb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1000-1002)ACG>AAG		gamma-aminobutyric acid (GABA) receptor, rho 2							167.0	135.0	145.0					6																	89974291		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89974291G>T		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.926C>A	6.37:g.89974291G>T	ENSP00000386029:p.Thr309Lys					GABRR2_uc011dzx.1_Missense_Mutation_p.T210K	p.T334K	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	8	1009	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	334			Helical; (Potential).		A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1001C>A	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	G	35	5.592392	0.96590	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.84	5.84	0.93424	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.045331	0.85682	D	0.000000	D	0.82623	0.5077	M	0.87547	2.89	0.80722	D	1	D	0.69078	0.997	D	0.69824	0.966	T	0.83304	-0.0026	8	.	.	.	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	334	P28476	GBRR2_HUMAN	K	334	.	.	T	-	2	0	GABRR2	90031010	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.062000	0.89475	2.768000	0.95171	0.561000	0.74099	ACG		PASS	0.567	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			12	107	12	107	---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105219949	105219949	+	Splice_Site	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:105219949C>A	ENST00000262903.4	-	18	2141	c.1865G>T	c.(1864-1866)gGa>gTa	p.G622V	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	622	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.G622V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAAAGTTGTTCCTATTGaaat	0.328																																						uc003pqu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)	7						c.(1864-1866)GGA>GTA		HECT domain and ankyrin repeat containing, E3							47.0	46.0	47.0					6																	105219949		2203	4300	6503	SO:0001630	splice_region_variant	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105219949C>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1865-1G>T	6.37:g.105219949C>A						HACE1_uc010kcy.1_Missense_Mutation_p.G104V|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Missense_Mutation_p.G31V|HACE1_uc003pqt.1_Missense_Mutation_p.G275V	p.G622V	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	18	2142	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	622			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.1865G>T	CCDS5050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.88|19.88	3.909784|3.909784	0.72983|0.72983	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000262903|ENST00000518503;ENST00000518402	T|.	0.58358|.	0.34|.	5.58|5.58	5.58|5.58	0.84498|0.84498	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81735|0.81735	0.4885|0.4885	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.998;1.0;1.0|.	T|T	0.83283|0.83283	-0.0037|-0.0037	10|5	0.66056|.	D|.	0.02|.	.|.	19.5659|19.5659	0.95393|0.95393	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	111;622;275|.	B4DFM6;Q8IYU2;Q8IYU2-3|.	.;HACE1_HUMAN;.|.	V|C	622|104;56	ENSP00000262903:G622V|.	ENSP00000262903:G622V|.	G|W	-|-	2|3	0|0	HACE1|HACE1	105326642|105326642	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.374000|7.374000	0.79633|0.79633	2.619000|2.619000	0.88677|0.88677	0.563000|0.563000	0.77884|0.77884	GGA|TGG		PASS	0.328	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	Missense_Mutation	5	25	5	25	---	---	---	---
PRDM1	639	broad.mit.edu	37	6	106555118	106555118	+	Silent	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:106555118G>T	ENST00000369096.4	+	7	2469	c.2235G>T	c.(2233-2235)gtG>gtT	p.V745V	PRDM1_ENST00000369091.2_Silent_p.V709V|PRDM1_ENST00000369089.3_Silent_p.V611V	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	745					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V709V(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TCGAGGACGTGGAGGATGACA	0.507			"""D, N, Mis, F, S"""		DLBCL																																	uc003prd.2				Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(2233-2235)GTG>GTT		PR domain containing 1, with ZNF domain isoform							114.0	119.0	117.0					6																	106555118		2203	4300	6503	SO:0001819	synonymous_variant	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106555118G>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.2235G>T	6.37:g.106555118G>T						PRDM1_uc003pre.2_Silent_p.V611V	p.V745V	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	7	2469	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	745					B2REA6|E1P5E0|Q86WM7	Silent	SNP	ENST00000369096.4	37	c.2235G>T	CCDS5054.2																																																																																				PASS	0.507	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			31	196	31	196	---	---	---	---
LACE1	246269	broad.mit.edu	37	6	108840991	108840991	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:108840991T>C	ENST00000368977.4	+	12	1481	c.1295T>C	c.(1294-1296)aTg>aCg	p.M432T		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	432						mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.M432T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AGAATACTGATGGATGATTTG	0.373																																						uc003psj.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1294-1296)ATG>ACG		lactation elevated 1							124.0	115.0	118.0					6																	108840991		2203	4300	6503	SO:0001583	missense	246269						ATP binding	g.chr6:108840991T>C	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1295T>C	6.37:g.108840991T>C	ENSP00000357973:p.Met432Thr						p.M432T	NM_145315	NP_660358	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	12	1481	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	432					Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	c.1295T>C	CCDS5067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.43|16.43	3.120131|3.120131	0.56613|0.56613	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000368977|ENST00000421954	.|.	.|.	.|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.076846|.	0.85682|.	D|.	0.000000|.	T|T	0.73458|0.73458	0.3589|0.3589	M|M	0.84326|0.84326	2.69|2.69	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.36837|.	0.571|.	P|.	0.46208|.	0.507|.	T|T	0.76683|0.76683	-0.2869|-0.2869	9|5	0.87932|.	D|.	0|.	-18.0568|-18.0568	15.8433|15.8433	0.78868|0.78868	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	432|.	Q8WV93|.	LACE1_HUMAN|.	T|R	432|300	.|.	ENSP00000357973:M432T|.	M|W	+|+	2|1	0|0	LACE1|LACE1	108947684|108947684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.677000|6.677000	0.74503|0.74503	2.225000|2.225000	0.72522|0.72522	0.459000|0.459000	0.35465|0.35465	ATG|TGG		PASS	0.373	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		12	62	12	62	---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133802602	133802602	+	Splice_Site	SNP	A	A	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:133802602A>T	ENST00000367895.5	+	12	1436	c.972A>T	c.(970-972)ggA>ggT	p.G324G	EYA4_ENST00000430974.2_Splice_Site_p.G276G|EYA4_ENST00000452339.2_Splice_Site_p.G270G|EYA4_ENST00000355167.3_Splice_Site_p.G324G|EYA4_ENST00000355286.6_Splice_Site_p.G301G|EYA4_ENST00000525849.1_Splice_Site_p.G301G|EYA4_ENST00000531901.1_Splice_Site_p.G330G|EYA4_ENST00000431403.2_Splice_Site_p.G324G	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	324					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.G324G(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TATCTATAGGAGAGTTCGATA	0.383																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)	2						c.(970-972)GGA>GGT		eyes absent 4 isoform a							107.0	111.0	110.0					6																	133802602		2203	4300	6503	SO:0001630	splice_region_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133802602A>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.971-1A>T	6.37:g.133802602A>T						EYA4_uc011ecq.1_Silent_p.G270G|EYA4_uc011ecr.1_Silent_p.G276G|EYA4_uc003qed.3_Silent_p.G324G|EYA4_uc003qee.3_Silent_p.G301G|EYA4_uc011ecs.1_Silent_p.G330G|uc003qef.1_Intron	p.G324G	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	12	1430	+	Colorectal(23;0.221)		324					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.972A>T	CCDS5165.1																																																																																				PASS	0.383	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100	Silent	19	125	19	125	---	---	---	---
ALDH8A1	64577	broad.mit.edu	37	6	135271188	135271189	+	Start_Codon_SNP	DNP	CC	CC	AA	rs141981819|rs372301035		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:135271188_135271189CC>AA	ENST00000265605.2	-	1	71_72	c.3_4GG>TT	c.(1-6)atGGct>atTTct	p.1_2MA>IS	ALDH8A1_ENST00000367847.2_Start_Codon_SNP_p.1_2MA>IS|ALDH8A1_ENST00000367845.2_Start_Codon_SNP_p.1_2MA>IS	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	1					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.M1I(1)|p.M1_A2>IS(1)|p.A2S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		TTTGTTCCAGCCATAGCAAGGA	0.47																																						uc003qew.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|pancreas(1)|skin(1)	4						c.(4-6)GCT>TCT|c.(1-3)ATG>ATT		aldehyde dehydrogenase 8A1 isoform 1																																				SO:0001582	initiator_codon_variant	64577				retinal metabolic process	cytoplasm	retinal dehydrogenase activity	g.chr6:135271188C>A|g.chr6:135271189C>A	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.3_4delinsAA	6.37:g.135271188_135271189delinsAA	ENSP00000265605:p.M1_A2delinsIS					ALDH8A1_uc003qex.2_Missense_Mutation_p.A2S|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.A2S|ALDH8A1_uc003qex.2_Missense_Mutation_p.M1I|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.M1I	p.A2S|p.M1I	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)	1	57|56	-	Colorectal(23;0.221)		2|1					B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	c.4G>T|c.3G>T	CCDS5171.1																																																																																				PASS	0.470	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2		Missense_Mutation	10	93|94	10	93	---	---	---	---
IL22RA2	116379	broad.mit.edu	37	6	137466874	137466874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:137466874C>A	ENST00000296980.2	-	7	979	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	IL22RA2_ENST00000349184.4_Nonsense_Mutation_p.E195*|IL22RA2_ENST00000339602.3_3'UTR	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	227	Fibronectin type-III 3.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)	p.E227*(1)		endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		GCTTCAATTTCAACCGCTCTG	0.428																																						uc003qhl.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(679-681)GAA>TAA		interleukin 22-binding protein isoform 1							129.0	128.0	128.0					6																	137466874		2203	4300	6503	SO:0001587	stop_gained	116379				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity	g.chr6:137466874C>A	AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"""Interleukins and interleukin receptors"""	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.679G>T	6.37:g.137466874C>A	ENSP00000296980:p.Glu227*					IL22RA2_uc003qhm.2_Nonsense_Mutation_p.E195*|IL22RA2_uc003qhn.2_3'UTR	p.E227*	NM_052962	NP_443194	Q969J5	I22R2_HUMAN		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)	7	980	-	Colorectal(23;0.24)		227			Fibronectin type-III 3.		Q08AH7|Q6UWM1|Q96A41|Q96QR0	Nonsense_Mutation	SNP	ENST00000296980.2	37	c.679G>T	CCDS5182.1	.	.	.	.	.	.	.	.	.	.	C	36	5.963442	0.97151	.	.	ENSG00000164485	ENST00000349184;ENST00000296980	.	.	.	5.87	5.01	0.66863	.	0.685203	0.14546	N	0.312933	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	11.4778	0.50308	0.0:0.917:0.0:0.083	.	.	.	.	X	195;227	.	ENSP00000296980:E227X	E	-	1	0	IL22RA2	137508567	0.908000	0.30866	0.362000	0.25862	0.083000	0.17756	0.634000	0.24614	1.626000	0.50381	0.655000	0.94253	GAA		PASS	0.428	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042399.1			17	66	17	66	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144794931	144794931	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:144794931G>A	ENST00000367545.3	+	23	3142	c.3142G>A	c.(3142-3144)Gac>Aac	p.D1048N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1048					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.D1048N(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGCCCAAGGAGACGACGCAGG	0.443																																						uc003qkt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(3142-3144)GAC>AAC		utrophin							120.0	110.0	113.0					6																	144794931		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144794931G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3142G>A	6.37:g.144794931G>A	ENSP00000356515:p.Asp1048Asn					UTRN_uc010khq.1_Missense_Mutation_p.D1048N	p.D1048N	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	23	3234	+		Ovarian(120;0.218)	1048			Spectrin 7.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.3142G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440901	0.43326	.	.	ENSG00000152818	ENST00000367545	T	0.47177	0.85	5.91	4.14	0.48551	.	0.113597	0.38492	N	0.001670	T	0.57844	0.2081	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.61797	-0.6989	10	0.49607	T	0.09	.	15.7293	0.77790	0.1236:0.0:0.8764:0.0	.	1048	P46939	UTRO_HUMAN	N	1048	ENSP00000356515:D1048N	ENSP00000356515:D1048N	D	+	1	0	UTRN	144836624	1.000000	0.71417	0.013000	0.15412	0.002000	0.02628	6.243000	0.72384	0.425000	0.26087	-1.598000	0.00824	GAC		PASS	0.443	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			3	46	3	46	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145161969	145161969	+	Splice_Site	SNP	G	G	T	rs141700678		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:145161969G>T	ENST00000367545.3	+	72	10270		c.e72+1		UTRN_ENST00000367526.4_Splice_Site	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTTGCTGCCGTGAGTATGAA	0.542																																						uc003qkt.2																			1	Unknown(1)		lung(1)	ovary(4)|pancreas(1)	5						c.e72+1		utrophin							106.0	79.0	88.0					6																	145161969		2203	4300	6503	SO:0001630	splice_region_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145161969G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.10270+1G>T	6.37:g.145161969G>T							p.P3424_splice	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	72	10362	+		Ovarian(120;0.218)						Q5SYY1|Q5SZ57|Q9UJ40	Splice_Site	SNP	ENST00000367545.3	37	c.10270_splice	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802359	0.70682	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9283	0.97112	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTRN	145203662	1.000000	0.71417	0.986000	0.45419	0.599000	0.36880	8.953000	0.93041	2.708000	0.92522	0.585000	0.79938	.		PASS	0.542	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		Intron	10	80	10	80	---	---	---	---
ESR1	2099	broad.mit.edu	37	6	152415692	152415692	+	Silent	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:152415692C>A	ENST00000206249.3	+	7	1904	c.1542C>A	c.(1540-1542)atC>atA	p.I514I	ESR1_ENST00000427531.2_Intron|ESR1_ENST00000406599.1_Silent_p.I253I|ESR1_ENST00000338799.5_Silent_p.I514I|ESR1_ENST00000443427.1_Silent_p.I514I|ESR1_ENST00000440973.1_Silent_p.I514I|ESR1_ENST00000456483.2_Silent_p.I402I	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	514	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I514I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	TCTCCCACATCAGGCACATGA	0.582																																						uc003qom.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(1540-1542)ATC>ATA		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						46.0	44.0	45.0					6																	152415692		2203	4300	6503	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152415692C>A	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1542C>A	6.37:g.152415692C>A						ESR1_uc010kin.2_Silent_p.I514I|ESR1_uc010kio.2_Silent_p.I516I|ESR1_uc010kip.2_Silent_p.I513I|ESR1_uc003qon.3_Silent_p.I514I|ESR1_uc003qoo.3_Silent_p.I514I|ESR1_uc010kiq.2_Silent_p.I112I|ESR1_uc010kir.2_Silent_p.I253I|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Silent_p.I99I|ESR1_uc011eew.1_Missense_Mutation_p.Q91K|ESR1_uc010kis.2_Silent_p.I183I|ESR1_uc011eex.1_Intron|ESR1_uc011eey.1_Intron	p.I514I	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	9	1912	+		Ovarian(120;0.0448)	514			Steroid-binding.|Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.1542C>A	CCDS5234.1																																																																																				PASS	0.582	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			6	71	6	71	---	---	---	---
UNC93A	54346	broad.mit.edu	37	6	167728874	167728874	+	Silent	SNP	G	G	A	rs147514798		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr6:167728874G>A	ENST00000230256.3	+	8	1483	c.1308G>A	c.(1306-1308)ccG>ccA	p.P436P	UNC93A_ENST00000366829.2_Silent_p.P394P	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	436						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P436P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCAAGAACCCGATCAGACCCC	0.532																																						uc003qvq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1306-1308)CCG>CCA		unc-93 homolog A isoform 1		G	,	1,4405	2.1+/-5.4	0,1,2202	191.0	207.0	202.0		1182,1308	-1.6	0.0	6	dbSNP_134	202	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UNC93A	NM_001143947.1,NM_018974.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	394/416,436/458	167728874	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54346					integral to membrane|plasma membrane		g.chr6:167728874G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1308G>A	6.37:g.167728874G>A						UNC93A_uc003qvr.2_Silent_p.P394P	p.P436P	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	8	1483	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	436					B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	ENST00000230256.3	37	c.1308G>A	CCDS5300.1																																																																																				PASS	0.532	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974		47	371	47	371	---	---	---	---
FERD3L	222894	broad.mit.edu	37	7	19184779	19184779	+	Silent	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:19184779C>A	ENST00000275461.3	-	1	265	c.207G>T	c.(205-207)gtG>gtT	p.V69V	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	69					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V69V(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						ccccctggtccacttcgcact	0.632																																						uc003suo.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(205-207)GTG>GTT		nephew of atonal 3							64.0	43.0	50.0					7																	19184779		2203	4300	6503	SO:0001819	synonymous_variant	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184779C>A	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.207G>T	7.37:g.19184779C>A						uc003sun.1_RNA	p.V69V	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	266	-			69					Q495K0	Silent	SNP	ENST00000275461.3	37	c.207G>T	CCDS5368.1																																																																																				PASS	0.632	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			5	38	5	38	---	---	---	---
GRB10	2887	broad.mit.edu	37	7	50671727	50671727	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:50671727G>T	ENST00000401949.1	-	17	1981	c.1512C>A	c.(1510-1512)caC>caA	p.H504Q	GRB10_ENST00000398812.2_Missense_Mutation_p.H504Q|GRB10_ENST00000407526.1_Missense_Mutation_p.H446Q|GRB10_ENST00000402497.1_Missense_Mutation_p.H446Q|GRB10_ENST00000357271.5_Missense_Mutation_p.H458Q|GRB10_ENST00000335866.3_Missense_Mutation_p.H446Q|GRB10_ENST00000403097.1_Missense_Mutation_p.H498Q|GRB10_ENST00000402578.1_Missense_Mutation_p.H446Q|GRB10_ENST00000439599.1_Missense_Mutation_p.H498Q|GRB10_ENST00000398810.2_Missense_Mutation_p.H446Q|GRB10_ENST00000406641.1_Missense_Mutation_p.H446Q			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	504	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.H498Q(1)|p.H504Q(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TAATGATCCTGTGGGATTCCT	0.527									Russell-Silver syndrome																													uc003tpi.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1510-1512)CAC>CAA		growth factor receptor-bound protein 10 isoform							203.0	200.0	201.0					7																	50671727		1932	4147	6079	SO:0001583	missense	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50671727G>T		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1512C>A	7.37:g.50671727G>T	ENSP00000385770:p.His504Gln					GRB10_uc003tph.3_Missense_Mutation_p.H446Q|GRB10_uc003tpj.2_Missense_Mutation_p.H458Q|GRB10_uc003tpk.2_Missense_Mutation_p.H504Q|GRB10_uc010kzb.2_Missense_Mutation_p.H446Q|GRB10_uc003tpl.2_Missense_Mutation_p.H498Q|GRB10_uc003tpm.2_Missense_Mutation_p.H446Q|GRB10_uc003tpn.2_Missense_Mutation_p.H446Q	p.H504Q	NM_005311	NP_005302	Q13322	GRB10_HUMAN			14	1543	-	Glioma(55;0.08)|all_neural(89;0.245)		504			SH2.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1512C>A	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	G	2.863	-0.235798	0.05944	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000398791;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.46	3.64	0.41730	SH2 motif (5);	0.043786	0.85682	D	0.000000	T	0.58949	0.2158	N	0.01009	-1.055	0.49299	D	0.999776	B;B;B	0.12630	0.006;0.003;0.002	B;B;B	0.09377	0.003;0.003;0.004	T	0.59392	-0.7463	10	0.02654	T	1	-38.9742	6.9455	0.24516	0.1482:0.0:0.7136:0.1381	.	498;458;504	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	Q	504;498;446;446;446;498;446;458;446;504;36;446	ENSP00000381793:H504Q;ENSP00000406716:H498Q;ENSP00000338543:H446Q;ENSP00000381790:H446Q;ENSP00000385189:H446Q;ENSP00000385544:H498Q;ENSP00000385366:H446Q;ENSP00000349818:H458Q;ENSP00000385046:H446Q;ENSP00000385770:H504Q;ENSP00000385748:H446Q	ENSP00000338543:H446Q	H	-	3	2	GRB10	50639221	0.993000	0.37304	0.899000	0.35326	0.950000	0.60333	1.974000	0.40559	1.295000	0.44724	0.655000	0.94253	CAC		PASS	0.527	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			19	257	19	257	---	---	---	---
POM121	9883	broad.mit.edu	37	7	72413633	72413633	+	Missense_Mutation	SNP	C	C	T	rs150818636	byFrequency	TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:72413633C>T	ENST00000434423.2	+	11	3101	c.3101C>T	c.(3100-3102)aCg>aTg	p.T1034M	POM121_ENST00000446813.1_Missense_Mutation_p.T769M|POM121_ENST00000395270.1_Missense_Mutation_p.T769M|POM121_ENST00000257622.4_Missense_Mutation_p.T769M|POM121_ENST00000358357.3_Missense_Mutation_p.T769M			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1034	Pore side. {ECO:0000255}.				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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T769M(2)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGCGGTGCCACGCACTCGGCG	0.652																																						uc003twk.2																			2	Substitution - Missense(2)		lung(2)		0						c.(3100-3102)ACG>ATG		nuclear pore membrane protein 121		C	MET/THR	5,4401	9.9+/-24.2	0,5,2198	83.0	78.0	80.0		2306	-1.2	0.0	7	dbSNP_134	80	0,8600		0,0,4300	no	missense	POM121	NM_172020.2	81	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging	769/985	72413633	5,13001	2203	4300	6503	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413633C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3101C>T	7.37:g.72413633C>T	ENSP00000405562:p.Thr1034Met					POM121_uc003twj.2_Missense_Mutation_p.T769M|POM121_uc010lam.1_Missense_Mutation_p.T769M	p.T1034M	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			11	3101	+		Lung NSC(55;0.163)	1034			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.3101C>T		.	.	.	.	.	.	.	.	.	.	C	8.462	0.855495	0.17106	0.001135	0.0	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.07800	3.16;3.2;3.16;3.2;3.46	1.99	-1.19	0.09585	.	1.130430	0.06992	N	0.821755	T	0.05640	0.0148	L	0.35723	1.085	0.09310	N	1	P;P	0.44139	0.675;0.827	B;B	0.34418	0.085;0.182	T	0.33033	-0.9884	10	0.66056	D	0.02	.	3.905	0.09178	0.0:0.551:0.205:0.244	.	769;1034	A8MXF9;Q96HA1	.;P121A_HUMAN	M	769;769;769;769;1034	ENSP00000393020:T769M;ENSP00000257622:T769M;ENSP00000378687:T769M;ENSP00000351124:T769M;ENSP00000405562:T1034M	ENSP00000257622:T769M	T	+	2	0	POM121	72051569	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.882000	0.28186	-0.341000	0.08376	0.173000	0.16961	ACG		PASS	0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			13	182	13	182	---	---	---	---
TRIM50	135892	broad.mit.edu	37	7	72734219	72734219	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:72734219G>T	ENST00000333149.2	-	3	622	c.422C>A	c.(421-423)tCt>tAt	p.S141Y	TRIM50_ENST00000493498.1_5'Flank|TRIM50_ENST00000453152.1_Missense_Mutation_p.S141Y	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	141						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S141Y(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTTCAGCTCAGAGATGAGGGC	0.592																																						uc010lbd.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(421-423)TCT>TAT		tripartite motif protein 50A							294.0	245.0	261.0					7																	72734219		2203	4300	6503	SO:0001583	missense	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72734219G>T	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.422C>A	7.37:g.72734219G>T	ENSP00000327994:p.Ser141Tyr					FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.S141Y|TRIM50_uc003txz.1_Missense_Mutation_p.S141Y	p.S141Y	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN			3	547	-			141			Potential.		Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	c.422C>A	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286844	0.40494	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.58358	0.34;0.34	4.14	4.14	0.48551	.	0.211460	0.31257	N	0.007961	T	0.56232	0.1971	N	0.24115	0.695	0.23478	N	0.997596	D;D	0.65815	0.995;0.991	P;P	0.61201	0.885;0.77	T	0.54227	-0.8325	10	0.72032	D	0.01	.	15.4396	0.75173	0.0:0.0:1.0:0.0	.	141;141	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	Y	141	ENSP00000327994:S141Y;ENSP00000413875:S141Y	ENSP00000327994:S141Y	S	-	2	0	TRIM50	72372155	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	6.564000	0.73969	2.042000	0.60477	0.485000	0.47835	TCT		PASS	0.592	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		36	179	36	179	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86416062	86416062	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:86416062C>A	ENST00000361669.2	+	3	2053	c.954C>A	c.(952-954)taC>taA	p.Y318*	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Nonsense_Mutation_p.Y318*|GRM3_ENST00000394720.2_Nonsense_Mutation_p.Y316*|GRM3_ENST00000536043.1_Nonsense_Mutation_p.Y190*|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	318					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.Y318*(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ATGTGGCCTACGGCGCCATCA	0.667																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - Nonsense(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(952-954)TAC>TAA		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						37.0	37.0	37.0					7																	86416062		2203	4300	6503	SO:0001587	stop_gained	2913				synaptic transmission	integral to plasma membrane		g.chr7:86416062C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.954C>A	7.37:g.86416062C>A	ENSP00000355316:p.Tyr318*					GRM3_uc010lef.2_Nonsense_Mutation_p.Y316*|GRM3_uc010leg.2_Nonsense_Mutation_p.Y190*|GRM3_uc010leh.2_Intron	p.Y318*	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	2053	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		318			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Nonsense_Mutation	SNP	ENST00000361669.2	37	c.954C>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680234	0.88542	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	.	.	.	5.93	-4.86	0.03132	.	0.362395	0.31542	N	0.007475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	10.5977	0.45347	0.0:0.2404:0.0993:0.6603	.	.	.	.	X	318;190;318;316	.	ENSP00000355316:Y318X	Y	+	3	2	GRM3	86253998	0.069000	0.21087	0.791000	0.31998	0.980000	0.70556	-0.518000	0.06267	-0.799000	0.04439	-0.137000	0.14449	TAC		PASS	0.667	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			9	44	9	44	---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87536933	87536933	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:87536933G>T	ENST00000265728.1	+	12	1984	c.1480G>T	c.(1480-1482)Gat>Tat	p.D494Y		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	494					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.D494Y(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ACATGTTTCTGATTTCAGTAC	0.353																																						uc003ujf.1																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(1480-1482)GAT>TAT		activator of S phase kinase							83.0	81.0	82.0					7																	87536933		2203	4300	6503	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87536933G>T	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1480G>T	7.37:g.87536933G>T	ENSP00000265728:p.Asp494Tyr					DBF4_uc003ujh.1_Missense_Mutation_p.D234Y|DBF4_uc003ujg.1_Missense_Mutation_p.D270Y|DBF4_uc011khf.1_Missense_Mutation_p.D261Y	p.D494Y	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			12	1984	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	494					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.1480G>T	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	5.882	0.346882	0.11126	.	.	ENSG00000006634	ENST00000265728	T	0.32988	1.43	5.68	-7.68	0.01268	.	0.820900	0.10933	N	0.618163	T	0.11281	0.0275	N	0.08118	0	0.09310	N	1	B;B	0.18013	0.025;0.001	B;B	0.12837	0.008;0.002	T	0.23619	-1.0183	10	0.66056	D	0.02	0.0099	5.347	0.16014	0.111:0.2326:0.5647:0.0917	.	270;494	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	Y	494	ENSP00000265728:D494Y	ENSP00000265728:D494Y	D	+	1	0	DBF4	87374869	0.085000	0.21516	0.012000	0.15200	0.011000	0.07611	-0.039000	0.12124	-1.260000	0.02465	-0.793000	0.03317	GAT		PASS	0.353	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1	NM_006716		22	55	22	55	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88964364	88964364	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:88964364G>C	ENST00000333190.4	+	4	2677	c.2068G>C	c.(2068-2070)Gga>Cga	p.G690R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	690							metal ion binding (GO:0046872)	p.G690R(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)			CAAGGTTTCCGGATGTGGAAA	0.453										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2068-2070)GGA>CGA		zinc finger protein 804B							78.0	76.0	77.0					7																	88964364		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964364G>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2068G>C	7.37:g.88964364G>C	ENSP00000329638:p.Gly690Arg	HNSCC(36;0.09)					p.G690R	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2606	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		690					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2068G>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	6.937	0.542704	0.13250	.	.	ENSG00000182348	ENST00000333190	T	0.05139	3.49	4.95	2.15	0.27550	.	0.680115	0.14044	N	0.345258	T	0.05273	0.0140	L	0.29908	0.895	0.09310	N	1	B	0.19073	0.033	B	0.17722	0.019	T	0.38585	-0.9654	10	0.37606	T	0.19	-1.5005	8.0354	0.30488	0.3186:0.0:0.6814:0.0	.	690	A4D1E1	Z804B_HUMAN	R	690	ENSP00000329638:G690R	ENSP00000329638:G690R	G	+	1	0	ZNF804B	88802300	0.985000	0.35326	0.021000	0.16686	0.052000	0.14988	1.295000	0.33377	0.283000	0.22279	0.555000	0.69702	GGA		PASS	0.453	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		4	66	4	66	---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92733667	92733667	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:92733667T>C	ENST00000379958.2	-	3	2013	c.1744A>G	c.(1744-1746)Ata>Gta	p.I582V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	582						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.I582V(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCCTGAAATATGTGTGGGTGC	0.383																																						uc003umf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1744-1746)ATA>GTA		sterile alpha motif domain containing 9							135.0	129.0	131.0					7																	92733667		2203	4300	6503	SO:0001583	missense	54809					cytoplasm		g.chr7:92733667T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1744A>G	7.37:g.92733667T>C	ENSP00000369292:p.Ile582Val					SAMD9_uc003umg.2_Missense_Mutation_p.I582V	p.I582V	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2000	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		582					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.1744A>G	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	4.228	0.041278	0.08196	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.13196	2.61;2.61	4.35	3.14	0.36123	.	0.387058	0.22084	U	0.064844	T	0.14056	0.0340	M	0.63428	1.95	0.09310	N	1	B	0.18461	0.028	B	0.11329	0.006	T	0.18903	-1.0322	10	0.27785	T	0.31	.	9.2195	0.37368	0.1625:0.0:0.0:0.8375	.	582	Q5K651	SAMD9_HUMAN	V	582	ENSP00000369292:I582V;ENSP00000414529:I582V	ENSP00000369292:I582V	I	-	1	0	SAMD9	92571603	0.144000	0.22641	0.174000	0.22961	0.016000	0.09150	1.667000	0.37471	0.757000	0.33036	0.491000	0.48974	ATA		PASS	0.383	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		12	122	12	122	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100679806	100679806	+	Silent	SNP	C	C	A	rs71525815		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:100679806C>A	ENST00000306151.4	+	3	5173	c.5109C>A	c.(5107-5109)gcC>gcA	p.A1703A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1703	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A1703A(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCGGTGGCCAGCTCTGCAA	0.478																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(5107-5109)GCC>GCA		mucin 17 precursor							186.0	200.0	195.0					7																	100679806		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679806C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5109C>A	7.37:g.100679806C>A						MUC17_uc010lho.1_RNA	p.A1703A	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	5162	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1703			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|26.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.5109C>A	CCDS34711.1																																																																																				PASS	0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		104	279	104	279	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103202279	103202279	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:103202279A>G	ENST00000428762.1	-	35	5491	c.5332T>C	c.(5332-5334)Tgt>Cgt	p.C1778R	RELN_ENST00000343529.5_Missense_Mutation_p.C1778R|RELN_ENST00000424685.2_Missense_Mutation_p.C1778R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1778	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.C1778R(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAGCATCACAAATCCCTCGT	0.443																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5332-5334)TGT>CGT		reelin isoform a							105.0	94.0	98.0					7																	103202279		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103202279A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5332T>C	7.37:g.103202279A>G	ENSP00000392423:p.Cys1778Arg					RELN_uc010liz.2_Missense_Mutation_p.C1778R	p.C1778R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	35	5492	-			1778			EGF-like 4.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5332T>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109755	0.77096	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.49139	0.79;0.79;0.79	5.93	5.93	0.95920	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.988	D	0.86822	0.2005	10	0.87932	D	0	.	16.3756	0.83387	1.0:0.0:0.0:0.0	.	1778;1778	P78509-2;P78509	.;RELN_HUMAN	R	1778	ENSP00000392423:C1778R;ENSP00000345694:C1778R;ENSP00000388446:C1778R	ENSP00000345694:C1778R	C	-	1	0	RELN	102989515	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.711000	0.91396	2.270000	0.75569	0.460000	0.39030	TGT		PASS	0.443	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		8	77	8	77	---	---	---	---
RINT1	60561	broad.mit.edu	37	7	105192040	105192040	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:105192040A>G	ENST00000257700.2	+	10	1588	c.1357A>G	c.(1357-1359)Atg>Gtg	p.M453V		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	453	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.M453V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AATGGACTCAATGCTTTCCTC	0.353																																						uc003vda.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1357-1359)ATG>GTG		RAD50 interactor 1							128.0	124.0	125.0					7																	105192040		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105192040A>G	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1357A>G	7.37:g.105192040A>G	ENSP00000257700:p.Met453Val					RINT1_uc010ljj.1_Missense_Mutation_p.M28V	p.M453V	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN			10	1588	+			453			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1357A>G	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393715	0.62066	.	.	ENSG00000135249	ENST00000257700	T	0.29655	1.56	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	L	0.51422	1.61	0.80722	D	1	P	0.49447	0.924	B	0.43445	0.42	T	0.04885	-1.0920	10	0.21540	T	0.41	-15.637	15.3535	0.74409	1.0:0.0:0.0:0.0	.	453	Q6NUQ1	RINT1_HUMAN	V	453	ENSP00000257700:M453V	ENSP00000257700:M453V	M	+	1	0	RINT1	104979276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.097000	0.76967	2.034000	0.60081	0.460000	0.39030	ATG		PASS	0.353	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		22	63	22	63	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107600135	107600135	+	Splice_Site	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:107600135C>T	ENST00000222399.6	-	19	2689		c.e19+1		LAMB1_ENST00000393561.1_Splice_Site|LAMB1_ENST00000393560.1_Missense_Mutation_p.R820H	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.?(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GAGGAACCTACGTTTGCATCC	0.527																																						uc003vew.2																			1	Unknown(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.e19+1		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						62.0	60.0	61.0					7																	107600135		2203	4300	6503	SO:0001630	splice_region_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107600135C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2458+1G>A	7.37:g.107600135C>T						LAMB1_uc003vev.2_Splice_Site_p.P844_splice|LAMB1_uc003vex.2_Missense_Mutation_p.R820H	p.P820_splice	NM_002291	NP_002282	P07942	LAMB1_HUMAN			19	2793	-								Q14D91	Splice_Site	SNP	ENST00000222399.6	37	c.2458_splice	CCDS5750.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.41|13.41	2.228409|2.228409	0.39399|0.39399	.|.	.|.	ENSG00000091136|ENSG00000091136	ENST00000393561;ENST00000222399|ENST00000393560	.|T	.|0.39406	.|1.08	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|.	.|.	.|.	.|.	.|T	.|0.39172	.|0.1068	.|.	.|.	.|.	0.28611|0.28611	N|N	0.908679|0.908679	.|P	.|0.49358	.|0.923	.|B	.|0.42188	.|0.379	.|T	.|0.36212	.|-0.9757	.|8	.|0.49607	.|T	.|0.09	.|.	14.2951|14.2951	0.66308|0.66308	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|820	.|E7EPA6	.|.	.|H	-1|820	.|ENSP00000377190:R820H	.|ENSP00000377190:R820H	.|R	-|-	.|2	.|0	LAMB1|LAMB1	107387371|107387371	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.312000|0.312000	0.27988|0.27988	7.320000|7.320000	0.79064|0.79064	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	.|CGT		PASS	0.527	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	Intron	10	95	10	95	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519426	113519426	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:113519426G>T	ENST00000284601.3	-	4	1789	c.1721C>A	c.(1720-1722)aCc>aAc	p.T574N		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	574					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.T574N(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GATTGCCCGGGTGGGGATTGC	0.478																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1720-1722)ACC>AAC		protein phosphatase 1, regulatory (inhibitor)							115.0	109.0	111.0					7																	113519426		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519426G>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1721C>A	7.37:g.113519426G>T	ENSP00000284601:p.Thr574Asn						p.T574N	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1752	-			574					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1721C>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572874	0.28092	.	.	ENSG00000154415	ENST00000284601	T	0.15834	2.39	5.95	-2.42	0.06542	.	1.958180	0.01879	N	0.037766	T	0.11537	0.0281	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25984	-1.0116	10	0.40728	T	0.16	-0.3805	4.9193	0.13862	0.0911:0.2913:0.4453:0.1722	.	574	Q16821	PPR3A_HUMAN	N	574	ENSP00000284601:T574N	ENSP00000284601:T574N	T	-	2	0	PPP1R3A	113306662	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.205000	0.09411	-0.621000	0.05633	0.609000	0.83330	ACC		PASS	0.478	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		45	137	45	137	---	---	---	---
TFEC	22797	broad.mit.edu	37	7	115596774	115596774	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:115596774G>A	ENST00000265440.7	-	4	521	c.341C>T	c.(340-342)gCt>gTt	p.A114V	TFEC_ENST00000320239.7_Missense_Mutation_p.A85V|TFEC_ENST00000393485.1_Missense_Mutation_p.A85V|TFEC_ENST00000484212.1_Missense_Mutation_p.A204V|TFEC_ENST00000457268.1_Missense_Mutation_p.A47V	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	114	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A114V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGGACAAGAAGCACTTGTAAG	0.323																																						uc003vhj.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(340-342)GCT>GTT		transcription factor EC isoform a							108.0	105.0	106.0					7																	115596774		2203	4299	6502	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115596774G>A	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.341C>T	7.37:g.115596774G>A	ENSP00000265440:p.Ala114Val					TFEC_uc003vhk.1_Missense_Mutation_p.A85V|TFEC_uc003vhl.3_Missense_Mutation_p.A85V|TFEC_uc011kmw.1_Missense_Mutation_p.A204V|TFEC_uc003vhm.1_RNA	p.A114V	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		4	525	-			114			Necessary for transcriptional transactivation.		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.341C>T	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142217	0.77775	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239;ENST00000393485;ENST00000484212	T;T;T;T;T	0.18810	2.19;2.45;2.22;2.47;2.44	5.19	4.29	0.51040	.	0.345124	0.28515	N	0.015080	T	0.33381	0.0861	L	0.53249	1.67	0.37623	D	0.921362	D;D;D;D	0.57571	0.967;0.98;0.962;0.963	P;P;P;P	0.54664	0.63;0.758;0.625;0.574	T	0.27640	-1.0068	10	0.49607	T	0.09	-5.9103	13.4795	0.61328	0.0:0.0:0.8338:0.1662	.	204;85;85;114	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	V	114;47;85;85;204	ENSP00000265440:A114V;ENSP00000387650:A47V;ENSP00000318676:A85V;ENSP00000377125:A85V;ENSP00000417432:A204V	ENSP00000265440:A114V	A	-	2	0	TFEC	115384010	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.775000	0.47702	1.262000	0.44165	0.591000	0.81541	GCT		PASS	0.323	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		6	71	6	71	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119915193	119915193	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:119915193G>C	ENST00000331113.4	+	1	1472	c.507G>C	c.(505-507)caG>caC	p.Q169H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	169					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.Q169H(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGCAAGGCAGAGGGTCTGGA	0.612																																						uc003vjj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(505-507)CAG>CAC		potassium voltage-gated channel, Shal-related							67.0	67.0	67.0					7																	119915193		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915193G>C	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.507G>C	7.37:g.119915193G>C	ENSP00000333496:p.Gln169His						p.Q169H	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1472	+	all_neural(327;0.117)		169			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.507G>C	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824822	0.71143	.	.	ENSG00000184408	ENST00000331113	D	0.96913	-4.17	5.58	5.58	0.84498	.	0.144353	0.46145	D	0.000312	D	0.96525	0.8866	M	0.79258	2.445	0.58432	D	0.999996	P	0.40250	0.709	P	0.46510	0.519	D	0.95778	0.8814	9	.	.	.	.	13.8197	0.63313	0.0729:0.0:0.9271:0.0	.	169	Q9NZV8	KCND2_HUMAN	H	169	ENSP00000333496:Q169H	.	Q	+	3	2	KCND2	119702429	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.827000	0.62723	2.641000	0.89580	0.563000	0.77884	CAG		PASS	0.612	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		26	98	26	98	---	---	---	---
SPAM1	6677	broad.mit.edu	37	7	123594517	123594517	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:123594517T>A	ENST00000439500.1	+	4	1506	c.893T>A	c.(892-894)cTt>cAt	p.L298H	SPAM1_ENST00000223028.7_Missense_Mutation_p.L298H|SPAM1_ENST00000402183.2_Missense_Mutation_p.L298H|SPAM1_ENST00000340011.5_Missense_Mutation_p.L298H|SPAM1_ENST00000460182.1_Missense_Mutation_p.L298H	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	298					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.L298H(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAAGTCCACTTCCGGTTTTT	0.413																																						uc003vld.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)	4						c.(892-894)CTT>CAT		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						50.0	48.0	49.0					7																	123594517		2203	4298	6501	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594517T>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.893T>A	7.37:g.123594517T>A	ENSP00000402123:p.Leu298His					SPAM1_uc003vle.2_Missense_Mutation_p.L298H|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.L298H|SPAM1_uc010lku.2_Missense_Mutation_p.L298H	p.L298H	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	1295	+			298					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.893T>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668444	0.47677	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.367320	0.29948	N	0.010786	T	0.62417	0.2426	M	0.93375	3.41	0.38043	D	0.935516	D;D	0.89917	1.0;1.0	D;D	0.75020	0.982;0.985	T	0.75283	-0.3372	9	.	.	.	-21.5121	16.0034	0.80327	0.0:0.0:0.0:1.0	.	298;298	Q8TC30;P38567	.;HYALP_HUMAN	H	298	ENSP00000386028:L298H;ENSP00000417934:L298H;ENSP00000345849:L298H;ENSP00000402123:L298H;ENSP00000223028:L298H	.	L	+	2	0	SPAM1	123381753	1.000000	0.71417	0.996000	0.52242	0.050000	0.14768	5.467000	0.66737	2.371000	0.80710	0.533000	0.62120	CTT		PASS	0.413	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			14	72	14	72	---	---	---	---
PAX4	5078	broad.mit.edu	37	7	127251692	127251692	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:127251692G>A	ENST00000338516.3	-	8	753	c.754C>T	c.(754-756)Cct>Tct	p.P252S	PAX4_ENST00000378740.2_Silent_p.A262A|PAX4_ENST00000463946.1_Silent_p.A260A|PAX4_ENST00000341640.2_Silent_p.A262A			O43316	PAX4_HUMAN	paired box 4	0					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.A262A(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GTGGTTCCAGGGCAGGCAGGG	0.562																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(784-786)GCC>GCT		paired box 4							61.0	66.0	65.0					7																	127251692		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127251692G>A		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000338516.3:c.754C>T	7.37:g.127251692G>A	ENSP00000344297:p.Pro252Ser					PAX4_uc003vmf.2_Silent_p.A260A|PAX4_uc003vmg.1_Silent_p.A262A	p.A262A	NM_006193	NP_006184	O43316	PAX4_HUMAN			8	992	-			270					O95161|Q6B0H0	Silent	SNP	ENST00000338516.3	37	c.786C>T		.	.	.	.	.	.	.	.	.	.	G	9.990	1.230449	0.22542	.	.	ENSG00000106331	ENST00000338516	D	0.93712	-3.27	5.24	3.37	0.38596	.	.	.	.	.	D	0.90525	0.7031	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.82946	-0.0205	6	0.41790	T	0.15	.	6.4813	0.22065	0.099:0.1956:0.7054:0.0	.	.	.	.	S	252	ENSP00000344297:P252S	ENSP00000344297:P252S	P	-	1	0	PAX4	127038928	0.001000	0.12720	0.662000	0.29724	0.215000	0.24574	0.523000	0.22925	1.304000	0.44892	0.561000	0.74099	CCT		PASS	0.562	PAX4-201	KNOWN	basic	protein_coding	protein_coding				59	145	59	145	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128484996	128484996	+	Silent	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:128484996G>T	ENST00000325888.8	+	21	3738	c.3477G>T	c.(3475-3477)cgG>cgT	p.R1159R	FLNC_ENST00000346177.6_Silent_p.R1159R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1159					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.R1159R(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAAGGTGCGGGCCAGTGGAC	0.632																																						uc003vnz.3																			1	Substitution - coding silent(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(3475-3477)CGG>CGT		gamma filamin isoform a							50.0	57.0	54.0					7																	128484996		2124	4216	6340	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128484996G>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3477G>T	7.37:g.128484996G>T						FLNC_uc003voa.3_Silent_p.R1159R	p.R1159R	NM_001458	NP_001449	Q14315	FLNC_HUMAN			21	3686	+			1159			Filamin 10.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.3477G>T	CCDS43644.1																																																																																				PASS	0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			12	95	12	95	---	---	---	---
STRIP2	57464	broad.mit.edu	37	7	129095154	129095154	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:129095154G>T	ENST00000249344.2	+	8	816	c.776G>T	c.(775-777)gGc>gTc	p.G259V	STRIP2_ENST00000435494.2_Missense_Mutation_p.G259V	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	259					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)		p.G259V(1)									TTCTGCAGTGGCCTGGCTCCT	0.512																																						uc011koy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(775-777)GGC>GTC		hypothetical protein LOC57464 isoform a							161.0	148.0	152.0					7																	129095154		2203	4300	6503	SO:0001583	missense	57464							g.chr7:129095154G>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.776G>T	7.37:g.129095154G>T	ENSP00000249344:p.Gly259Val					FAM40B_uc003vow.2_Missense_Mutation_p.G259V|FAM40B_uc011koz.1_5'Flank	p.G259V	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN			8	816	+			259					Q8WUZ4	Missense_Mutation	SNP	ENST00000249344.2	37	c.776G>T	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131949	0.77662	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.50813	0.73;0.73	5.8	5.8	0.92144	.	0.105434	0.64402	D	0.000003	T	0.71913	0.3396	M	0.85542	2.76	0.80722	D	1	P;D	0.67145	0.892;0.996	P;D	0.70487	0.686;0.969	T	0.72737	-0.4203	10	0.44086	T	0.13	-20.7227	17.5475	0.87866	0.0:0.0:1.0:0.0	.	259;259	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	V	259	ENSP00000249344:G259V;ENSP00000392393:G259V	ENSP00000249344:G259V	G	+	2	0	FAM40B	128882390	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.750000	0.62162	2.758000	0.94735	0.561000	0.74099	GGC		PASS	0.512	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336		36	187	36	187	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135047693	135047693	+	Missense_Mutation	SNP	G	G	A	rs201606362		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:135047693G>A	ENST00000451834.1	-	12	2360	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CNOT4_ENST00000361528.4_Missense_Mutation_p.P622S|CNOT4_ENST00000473470.1_5'Flank|CNOT4_ENST00000541284.1_Missense_Mutation_p.P696S|CNOT4_ENST00000423368.2_Missense_Mutation_p.P625S			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P622S(1)|p.P696S(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TTGCTGGGGGGTCTGAAGGCT	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		13522	0.001		0.0	False		,,,				2504	0.0				Ovarian(51;766 1130 5502 35047 50875)	uc011kpy.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2086-2088)CCC>TCC		CCR4-NOT transcription complex, subunit 4							181.0	191.0	188.0					7																	135047693		1856	4096	5952	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135047693G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.2077C>T	7.37:g.135047693G>A	ENSP00000388491:p.Pro693Ser					CNOT4_uc003vss.2_Missense_Mutation_p.P622S|CNOT4_uc011kpz.1_Missense_Mutation_p.P693S|CNOT4_uc003vst.2_Missense_Mutation_p.P625S	p.P696S	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			11	2178	-			365					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000451834.1	37	c.2086C>T	CCDS55167.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.01	3.280526	0.59758	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000361528	T;T;T;T	0.53640	0.78;0.76;0.62;0.61	5.92	5.92	0.95590	.	.	.	.	.	T	0.63698	0.2533	L	0.40543	1.245	0.80722	D	1	B;P;D;D	0.67145	0.437;0.573;0.996;0.996	B;B;D;D	0.75484	0.14;0.272;0.986;0.986	T	0.63409	-0.6644	9	0.72032	D	0.01	.	20.3167	0.98654	0.0:0.0:1.0:0.0	.	693;696;625;622	E7ET38;F8VQP3;O95628-4;O95628-8	.;.;.;.	S	696;693;625;622	ENSP00000445508:P696S;ENSP00000388491:P693S;ENSP00000406777:P625S;ENSP00000354673:P622S	ENSP00000354673:P622S	P	-	1	0	CNOT4	134698233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.686000	0.84128	2.809000	0.96659	0.557000	0.71058	CCC		PASS	0.537	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		9	381	9	381	---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148515074	148515074	+	Missense_Mutation	SNP	C	C	G	rs144316514		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:148515074C>G	ENST00000460911.1	-	10	1208	c.1120G>C	c.(1120-1122)Gaa>Caa	p.E374Q	EZH2_ENST00000350995.2_Missense_Mutation_p.E335Q|EZH2_ENST00000483967.1_Missense_Mutation_p.E365Q|EZH2_ENST00000320356.2_Missense_Mutation_p.E379Q|EZH2_ENST00000476773.1_Missense_Mutation_p.E365Q|EZH2_ENST00000478654.1_Missense_Mutation_p.E365Q|EZH2_ENST00000541220.1_Missense_Mutation_p.E365Q			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	374	Interaction with CDYL.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.E335Q(1)|p.E379Q(1)|p.E379*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCCTTTGATTCCAGCACATTA	0.502			Mis		DLBCL																																	uc003wfd.1				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		3	Substitution - Missense(2)|Substitution - Nonsense(1)	p.T374fs*3(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(1120-1122)GAA>CAA		enhancer of zeste 2 isoform a		C	GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	0,4406		0,0,2203	152.0	128.0	136.0		1120,1093,1093,1135,1003	5.8	1.0	7	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	EZH2	NM_001203247.1,NM_001203248.1,NM_001203249.1,NM_004456.4,NM_152998.2	29,29,29,29,29	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	374/747,365/738,365/696,379/752,335/708	148515074	1,13005	2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148515074C>G		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1120G>C	7.37:g.148515074C>G	ENSP00000419711:p.Glu374Gln					EZH2_uc011kug.1_Missense_Mutation_p.E365Q|EZH2_uc003wfb.1_Missense_Mutation_p.E379Q|EZH2_uc003wfc.1_Missense_Mutation_p.E335Q|EZH2_uc011kuh.1_Missense_Mutation_p.E365Q|EZH2_uc011kui.1_Missense_Mutation_p.E374Q|EZH2_uc011kuj.1_RNA	p.E374Q	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		10	1286	-	Melanoma(164;0.15)		374					B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1120G>C	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.300892	0.81136	0.0	1.16E-4	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	M	0.67953	2.075	0.80722	D	1	P;P;D;P;P;P	0.59767	0.89;0.735;0.986;0.859;0.837;0.825	B;P;P;P;P;B	0.55871	0.34;0.462;0.786;0.493;0.462;0.313	T	0.80848	-0.1199	10	0.25751	T	0.34	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	374;365;365;374;335;379	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	Q	365;379;374;335;365;365;365	ENSP00000417062:E365Q;ENSP00000320147:E379Q;ENSP00000419711:E374Q;ENSP00000223193:E335Q;ENSP00000443219:E365Q;ENSP00000419050:E365Q;ENSP00000419856:E365Q	ENSP00000320147:E379Q	E	-	1	0	EZH2	148146007	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.144000	0.77357	2.724000	0.93272	0.563000	0.77884	GAA		PASS	0.502	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		12	160	12	160	---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150174540	150174540	+	Missense_Mutation	SNP	C	C	G	rs148200096	byFrequency	TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:150174540C>G	ENST00000307271.3	+	5	2244	c.1670C>G	c.(1669-1671)aCg>aGg	p.T557R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	557	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.T557R(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCAGACTTTACGAAATACGCG	0.498																																						uc003whj.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1669-1671)ACG>AGG		GTPase, IMAP family member 8							90.0	90.0	90.0					7																	150174540		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174540C>G	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1670C>G	7.37:g.150174540C>G	ENSP00000305107:p.Thr557Arg						p.T557R	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2000	+			557						Missense_Mutation	SNP	ENST00000307271.3	37	c.1670C>G	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.299543	0.23650	.	.	ENSG00000171115	ENST00000307271	T	0.05513	3.43	4.44	0.229	0.15368	AIG1 (1);	1.090880	0.07111	N	0.842194	T	0.02304	0.0071	N	0.02158	-0.66	0.09310	N	1	B	0.20164	0.042	B	0.22880	0.042	T	0.47182	-0.9137	10	0.22706	T	0.39	.	2.8718	0.05619	0.2307:0.2112:0.0:0.5581	.	557	Q8ND71	GIMA8_HUMAN	R	557	ENSP00000305107:T557R	ENSP00000305107:T557R	T	+	2	0	GIMAP8	149805473	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.601000	0.05687	0.151000	0.19162	-0.294000	0.09567	ACG		PASS	0.498	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		33	116	33	116	---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150696174	150696174	+	Splice_Site	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:150696174G>T	ENST00000484524.1	+	7	956		c.e7+1		NOS3_ENST00000297494.3_Splice_Site|NOS3_ENST00000461406.1_Splice_Site|NOS3_ENST00000467517.1_Splice_Site	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)						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.?(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCACCCCACGTGAGCACCAA	0.652																																						uc003wif.2																			1	Unknown(1)		lung(1)	central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.e8+1		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						74.0	93.0	87.0					7																	150696174		2202	4294	6496	SO:0001630	splice_region_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150696174G>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.956+1G>T	7.37:g.150696174G>T						NOS3_uc011kuy.1_Splice_Site_p.T113_splice|NOS3_uc011kuz.1_Splice_Site_p.T319_splice|NOS3_uc011kva.1_Splice_Site_p.T319_splice|NOS3_uc011kvb.1_Splice_Site_p.T319_splice	p.T319_splice	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	8	1252	+	all_neural(206;0.219)							Q495E5	Splice_Site	SNP	ENST00000484524.1	37	c.956_splice	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	20.8	4.052889	0.75960	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7063	0.85373	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NOS3	150327107	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.798000	0.99111	2.597000	0.87782	0.637000	0.83480	.		PASS	0.652	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603	Intron	81	252	81	252	---	---	---	---
GBX1	2636	broad.mit.edu	37	7	150864214	150864214	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:150864214C>A	ENST00000297537.4	-	1	421	c.422G>T	c.(421-423)gGc>gTc	p.G141V	GBX1_ENST00000475831.1_5'UTR	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	141	Pro-rich.				adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G141V(1)		large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGCGTCGGCCGCCTGGCTC	0.731																																						uc011kvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)GGC>GTC		gastrulation brain homeo box 1							13.0	17.0	15.0					7																	150864214		1835	4053	5888	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150864214C>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.422G>T	7.37:g.150864214C>A	ENSP00000297537:p.Gly141Val						p.G141V	NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	1	654	-			141			Pro-rich.			Missense_Mutation	SNP	ENST00000297537.4	37	c.422G>T	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967533	0.34754	.	.	ENSG00000164900	ENST00000297537	D	0.91631	-2.88	3.94	-1.99	0.07457	.	0.804226	0.09853	U	0.747364	T	0.81351	0.4804	N	0.08118	0	0.80722	D	1	B	0.15141	0.012	B	0.16289	0.015	T	0.59021	-0.7532	10	0.40728	T	0.16	-3.8904	9.6998	0.40180	0.0:0.2376:0.6564:0.106	.	141	Q14549	GBX1_HUMAN	V	141	ENSP00000297537:G141V	ENSP00000297537:G141V	G	-	2	0	GBX1	150495147	0.998000	0.40836	0.037000	0.18230	0.917000	0.54804	0.358000	0.20216	-0.741000	0.04797	0.478000	0.44815	GGC		PASS	0.731	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			8	38	8	38	---	---	---	---
WDR60	55112	broad.mit.edu	37	7	158738313	158738313	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr7:158738313G>C	ENST00000407559.3	+	25	3202	c.3044G>C	c.(3043-3045)gGt>gCt	p.G1015A		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	1015					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G1015A(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAGAAGGCTGGTGGCAGCTTC	0.657																																						uc003woe.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(3043-3045)GGT>GCT		WD repeat domain 60							15.0	20.0	19.0					7																	158738313		2061	4193	6254	SO:0001583	missense	55112							g.chr7:158738313G>C		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.3044G>C	7.37:g.158738313G>C	ENSP00000384290:p.Gly1015Ala					WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Missense_Mutation_p.G647A	p.G1015A	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	25	3202	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	1015					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.3044G>C	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.283517	0.00251	.	.	ENSG00000126870	ENST00000407559	T	0.22336	1.96	4.94	-1.31	0.09230	.	0.473457	0.24087	N	0.041678	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.12837	0.008;0.002	T	0.20874	-1.0262	10	0.26408	T	0.33	-3.5861	1.8428	0.03153	0.2269:0.2566:0.3866:0.1299	.	498;1015	A4D230;Q8WVS4	.;WDR60_HUMAN	A	1015	ENSP00000384290:G1015A	ENSP00000384290:G1015A	G	+	2	0	WDR60	158431074	0.001000	0.12720	0.000000	0.03702	0.093000	0.18481	0.068000	0.14531	-0.163000	0.10946	-0.268000	0.10319	GGT		PASS	0.657	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		5	11	5	11	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2041864	2041864	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:2041864G>C	ENST00000262113.4	+	17	2212	c.2071G>C	c.(2071-2073)Ggg>Cgg	p.G691R	MYOM2_ENST00000523438.1_Missense_Mutation_p.G116R	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	691	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.G691R(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAATGCTGTGGGGATGAGTGA	0.532																																						uc003wpx.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2071-2073)GGG>CGG		myomesin 2							186.0	150.0	162.0					8																	2041864		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2041864G>C		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2071G>C	8.37:g.2041864G>C	ENSP00000262113:p.Gly691Arg					MYOM2_uc011kwi.1_Missense_Mutation_p.G116R	p.G691R	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	17	2209	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	691			Fibronectin type-III 3.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2071G>C	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648934	0.67358	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.68765	-0.35;-0.35	5.44	5.44	0.79542	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88658	0.6496	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92253	0.5810	10	0.87932	D	0	.	19.2748	0.94027	0.0:0.0:1.0:0.0	.	691	P54296	MYOM2_HUMAN	R	691;116	ENSP00000262113:G691R;ENSP00000428396:G116R	ENSP00000262113:G691R	G	+	1	0	MYOM2	2029271	1.000000	0.71417	0.107000	0.21349	0.024000	0.10985	9.512000	0.98008	2.558000	0.86282	0.655000	0.94253	GGG		PASS	0.532	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		15	87	15	87	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39442156	39442156	+	Silent	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:39442156C>A	ENST00000265707.5	+	1	60	c.15C>A	c.(13-15)ctC>ctA	p.L5L	ADAM18_ENST00000379866.1_Silent_p.L5L|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000520772.1_Silent_p.L5L	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	5					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L5L(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCCTTCTCCTCGCCCTCCTCA	0.607																																						uc003xni.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(13-15)CTC>CTA		a disintegrin and metalloprotease domain 18							108.0	87.0	94.0					8																	39442156		2203	4300	6503	SO:0001819	synonymous_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39442156C>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.15C>A	8.37:g.39442156C>A						ADAM18_uc003xnh.2_Silent_p.L5L|ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.L5L	p.L5L	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		1	15	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	5					B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	ENST00000265707.5	37	c.15C>A	CCDS6113.1																																																																																				PASS	0.607	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		14	135	14	135	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39645623	39645623	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:39645623C>T	ENST00000265708.4	-	9	893	c.790G>A	c.(790-792)Gat>Aat	p.D264N	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.D264N|ADAM2_ENST00000347580.4_Missense_Mutation_p.D245N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	264	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.D264N(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)		AATGCCACATCATGAGGACGT	0.294																																						uc003xnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(790-792)GAT>AAT		ADAM metallopeptidase domain 2 proprotein							87.0	84.0	85.0					8																	39645623		2202	4291	6493	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39645623C>T	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.790G>A	8.37:g.39645623C>T	ENSP00000265708:p.Asp264Asn					ADAM2_uc003xnk.2_Missense_Mutation_p.D245N|ADAM2_uc011lck.1_Missense_Mutation_p.D264N|ADAM2_uc003xnl.2_Intron	p.D264N	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)	9	865	-		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)	264			Extracellular (Potential).|Peptidase M12B.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.790G>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399394	0.62177	.	.	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	T;T;T	0.17691	2.26;2.26;2.26	4.57	4.57	0.56435	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.49795	0.1578	M	0.93507	3.425	0.37775	D	0.926813	D;D;D	0.61080	0.989;0.987;0.989	D;P;D	0.68039	0.955;0.891;0.955	T	0.66889	-0.5809	8	.	.	.	.	13.2141	0.59849	0.0:1.0:0.0:0.0	.	264;245;264	B4DWY7;Q99965-2;Q99965	.;.;ADAM2_HUMAN	N	245;264;264	ENSP00000343854:D245N;ENSP00000265708:D264N;ENSP00000429352:D264N	.	D	-	1	0	ADAM2	39764780	0.996000	0.38824	0.899000	0.35326	0.916000	0.54674	1.875000	0.39578	2.244000	0.73946	0.460000	0.39030	GAT		PASS	0.294	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		9	85	9	85	---	---	---	---
SNAI2	6591	broad.mit.edu	37	8	49832952	49832952	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:49832952G>T	ENST00000396822.1	-	3	485	c.128C>A	c.(127-129)cCa>cAa	p.P43Q	SNAI2_ENST00000020945.1_Missense_Mutation_p.P43Q			O43623	SNAI2_HUMAN	snail family zinc finger 2	43					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.P43Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CTCTGGTTGTGGTATGACAGG	0.473																																						uc003xqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(127-129)CCA>CAA		snail 2							141.0	147.0	145.0					8																	49832952		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832952G>T	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.128C>A	8.37:g.49832952G>T	ENSP00000380034:p.Pro43Gln						p.P43Q	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	292	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	43					B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.128C>A	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048579	0.93740	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.12361	2.69;2.69	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.42337	0.1198	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.36261	-0.9755	9	.	.	.	-10.3894	19.0921	0.93231	0.0:0.0:1.0:0.0	.	43	O43623	SNAI2_HUMAN	Q	43	ENSP00000020945:P43Q;ENSP00000380034:P43Q	.	P	-	2	0	SNAI2	49995505	1.000000	0.71417	0.992000	0.48379	0.937000	0.57800	7.331000	0.79192	2.509000	0.84616	0.561000	0.74099	CCA		PASS	0.473	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		37	200	37	200	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750744	59750744	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:59750744C>T	ENST00000361421.1	-	5	1040	c.820G>A	c.(820-822)Gat>Aat	p.D274N		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	274						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D274N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GCCTGAGTATCACGAAAGAAT	0.458																																					Pancreas(161;610 1969 17913 21374 22725)	uc003xtw.1																			1	Substitution - Missense(1)		lung(1)	kidney(2)|lung(1)|skin(1)	4						c.(820-822)GAT>AAT		thymus high mobility group box protein TOX							116.0	114.0	115.0					8																	59750744		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59750744C>T		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.820G>A	8.37:g.59750744C>T	ENSP00000354842:p.Asp274Asn						p.D274N	NM_014729	NP_055544	O94900	TOX_HUMAN			5	1041	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	274			HMG box.		Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.820G>A	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	35	5.498516	0.96355	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.48201	0.82	5.59	5.59	0.84812	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78802	-0.2061	9	.	.	.	.	19.5961	0.95538	0.0:1.0:0.0:0.0	.	274	O94900	TOX_HUMAN	N	274;32	ENSP00000354842:D274N	.	D	-	1	0	TOX	59913298	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	7.818000	0.86416	2.621000	0.88768	0.591000	0.81541	GAT		PASS	0.458	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		20	73	20	73	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61707581	61707581	+	Silent	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:61707581G>A	ENST00000423902.2	+	4	2612	c.2133G>A	c.(2131-2133)aaG>aaA	p.K711K	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Silent_p.K711K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	711	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.K711K(2)|p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTGCTTTGAAGAAAAAGGTCA	0.398																																						uc003xue.2																			3	Substitution - coding silent(2)|Insertion - In frame(1)	p.556_871dup(1)	lung(3)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(2131-2133)AAG>AAA		chromodomain helicase DNA binding protein 7							75.0	76.0	76.0					8																	61707581		1821	4071	5892	SO:0001819	synonymous_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61707581G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2133G>A	8.37:g.61707581G>A							p.K711K	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		4	2610	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	711			Lys-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.2133G>A	CCDS47865.1																																																																																				PASS	0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		8	76	8	76	---	---	---	---
MYBL1	4603	broad.mit.edu	37	8	67479191	67479191	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:67479191C>G	ENST00000522677.3	-	13	2175	c.1765G>C	c.(1765-1767)Gaa>Caa	p.E589Q	MYBL1_ENST00000517885.1_Missense_Mutation_p.E247Q|MYBL1_ENST00000524176.2_Missense_Mutation_p.E589Q|MYBL1_ENST00000522419.1_5'UTR	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	589					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E589Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TTTAAAACTTCCCGAATATCT	0.333																																						uc003xwj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1765-1767)GAA>CAA		v-myb myeloblastosis viral oncogene homolog							106.0	93.0	97.0					8																	67479191		1789	4065	5854	SO:0001583	missense	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67479191C>G	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1765G>C	8.37:g.67479191C>G	ENSP00000429633:p.Glu589Gln					MYBL1_uc003xwl.2_Missense_Mutation_p.E589Q|MYBL1_uc003xwk.2_Missense_Mutation_p.E588Q	p.E589Q	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		13	2172	-			589					E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	c.1765G>C	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284127	0.80803	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.42131	0.98;0.98;0.98	5.48	5.48	0.80851	C-myb, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	M	0.67569	2.06	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.992;1.0	T	0.66292	-0.5960	10	0.59425	D	0.04	-18.909	19.365	0.94458	0.0:1.0:0.0:0.0	.	589;588;589	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	Q	589;247;589	ENSP00000429633:E589Q;ENSP00000428265:E247Q;ENSP00000428011:E589Q	ENSP00000428265:E247Q	E	-	1	0	MYBL1	67641745	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.459000	0.73513	2.558000	0.86282	0.650000	0.86243	GAA		PASS	0.333	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		8	67	8	67	---	---	---	---
ZNF704	619279	broad.mit.edu	37	8	81555279	81555279	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:81555279A>C	ENST00000327835.3	-	8	1349	c.1118T>G	c.(1117-1119)gTc>gGc	p.V373G		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	373							metal ion binding (GO:0046872)	p.V373G(1)		lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CCTTAAGCTGACTGTGCCTCT	0.512																																						uc003yby.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1117-1119)GTC>GGC		zinc finger protein 704							196.0	139.0	159.0					8																	81555279		2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81555279A>C	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.1118T>G	8.37:g.81555279A>C	ENSP00000331462:p.Val373Gly						p.V373G	NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		8	1350	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		373					B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.1118T>G	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.903067	0.33628	.	.	ENSG00000164684	ENST00000327835	T	0.36157	1.27	6.02	6.02	0.97574	.	0.563969	0.20708	N	0.087158	T	0.19485	0.0468	N	0.04959	-0.14	0.51767	D	0.999934	B	0.26809	0.16	B	0.22601	0.04	T	0.14504	-1.0470	10	0.21540	T	0.41	-25.8817	13.9152	0.63893	1.0:0.0:0.0:0.0	.	373	Q6ZNC4	ZN704_HUMAN	G	373	ENSP00000331462:V373G	ENSP00000331462:V373G	V	-	2	0	ZNF704	81717834	1.000000	0.71417	0.994000	0.49952	0.892000	0.51952	4.492000	0.60334	2.304000	0.77564	0.528000	0.53228	GTC		PASS	0.512	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		9	71	9	71	---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105507409	105507409	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:105507409C>T	ENST00000276654.5	-	6	1717	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	LRP12_ENST00000424843.2_Missense_Mutation_p.E518K|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	537					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.E537K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AATTCTGCTTCCACTCTTGAC	0.368																																						uc003yma.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1609-1611)GAA>AAA		low density lipoprotein-related protein 12							103.0	108.0	106.0					8																	105507409		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105507409C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1609G>A	8.37:g.105507409C>T	ENSP00000276654:p.Glu537Lys					LRP12_uc003ymb.2_Missense_Mutation_p.E518K|LRP12_uc003ylz.2_5'UTR	p.E537K	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1704	-			537			Cytoplasmic (Potential).		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1609G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675725	0.88445	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.94184	-2.04;-2.01;-3.37	5.72	5.72	0.89469	.	0.088734	0.85682	D	0.000000	D	0.95859	0.8652	L	0.51422	1.61	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.76071	0.987;0.98	D	0.95681	0.8732	10	0.72032	D	0.01	-16.1536	20.2441	0.98394	0.0:1.0:0.0:0.0	.	518;537	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	K	518;537;126	ENSP00000399148:E518K;ENSP00000276654:E537K;ENSP00000429305:E126K	ENSP00000276654:E537K	E	-	1	0	LRP12	105576585	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.765000	0.85310	2.865000	0.98341	0.655000	0.94253	GAA		PASS	0.368	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		8	84	8	84	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106814000	106814000	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:106814000C>G	ENST00000407775.2	+	8	1940	c.1690C>G	c.(1690-1692)Cta>Gta	p.L564V	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L432V|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L295V|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L432V|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	564					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L564V(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGATAATTATCTAGTGCACAA	0.453																																						uc003ymd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(1690-1692)CTA>GTA		zinc finger protein, multitype 2							104.0	108.0	107.0					8																	106814000		1923	4128	6051	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814000C>G	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1690C>G	8.37:g.106814000C>G	ENSP00000384179:p.Leu564Val					ZFPM2_uc011lhs.1_Missense_Mutation_p.L295V	p.L564V	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1713	+			564			C2HC-type 2.		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1690C>G	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072304	0.55646	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.86	4.98	0.66077	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	L	0.45581	1.43	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.08371	-1.0725	10	0.18276	T	0.48	.	8.9698	0.35899	0.0:0.8377:0.0:0.1623	.	564	Q8WW38	FOG2_HUMAN	V	564;432;432;295	ENSP00000384179:L564V;ENSP00000430757:L432V;ENSP00000428720:L432V;ENSP00000367733:L295V	ENSP00000367733:L295V	L	+	1	2	ZFPM2	106883176	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.643000	0.46604	2.777000	0.95525	0.655000	0.94253	CTA		PASS	0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			23	162	23	162	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106814360	106814360	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:106814360C>A	ENST00000407775.2	+	8	2300	c.2050C>A	c.(2050-2052)Cca>Aca	p.P684T	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P552T|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P415T|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P552T|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	684					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P684T(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGAAAGTGACCCAAATAAGAC	0.453																																						uc003ymd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(2050-2052)CCA>ACA		zinc finger protein, multitype 2							71.0	69.0	70.0					8																	106814360		1966	4144	6110	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814360C>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2050C>A	8.37:g.106814360C>A	ENSP00000384179:p.Pro684Thr					ZFPM2_uc011lhs.1_Missense_Mutation_p.P415T	p.P684T	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2073	+			684					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.2050C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917889	0.73098	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.36157	1.27;1.81;1.81;2.98	5.57	5.57	0.84162	.	0.049466	0.85682	D	0.000000	T	0.52158	0.1717	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.50432	-0.8829	10	0.52906	T	0.07	.	19.5413	0.95275	0.0:1.0:0.0:0.0	.	684	Q8WW38	FOG2_HUMAN	T	684;552;552;415	ENSP00000384179:P684T;ENSP00000430757:P552T;ENSP00000428720:P552T;ENSP00000367733:P415T	ENSP00000367733:P415T	P	+	1	0	ZFPM2	106883536	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.631000	0.89168	0.561000	0.74099	CCA		PASS	0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			8	39	8	39	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113301660	113301660	+	Silent	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:113301660A>G	ENST00000297405.5	-	57	9326	c.9082T>C	c.(9082-9084)Tta>Cta	p.L3028L	CSMD3_ENST00000352409.3_Silent_p.L2958L|CSMD3_ENST00000343508.3_Silent_p.L2988L|CSMD3_ENST00000455883.2_Silent_p.L2859L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3028	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L2988L(1)|p.L3028L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GACTGGCCTAAAAGGGAACGC	0.473										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9082-9084)TTA>CTA		CUB and Sushi multiple domains 3 isoform 1							123.0	112.0	116.0					8																	113301660		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113301660A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9082T>C	8.37:g.113301660A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.L2230L|CSMD3_uc003ynt.2_Silent_p.L2988L|CSMD3_uc011lhx.1_Silent_p.L2859L	p.L3028L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			57	9241	-			3028			Sushi 21.|Extracellular (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9082T>C	CCDS6315.1																																																																																				PASS	0.473	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	125	27	125	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123964389	123964389	+	Silent	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:123964389A>G	ENST00000314393.4	+	3	1474	c.639A>G	c.(637-639)gaA>gaG	p.E213E		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	213	Required for homodimerization.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E213E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ACCACGTGGAAGGGACCGCCC	0.582																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(637-639)GAA>GAG		zinc fingers and homeoboxes 2							119.0	127.0	124.0					8																	123964389		2203	4300	6503	SO:0001819	synonymous_variant	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964389A>G	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.639A>G	8.37:g.123964389A>G							p.E213E	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1206	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		213			Required for homodimerization.			Silent	SNP	ENST00000314393.4	37	c.639A>G	CCDS6336.1																																																																																				PASS	0.582	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		32	147	32	147	---	---	---	---
PTP4A3	11156	broad.mit.edu	37	8	142437157	142437157	+	Missense_Mutation	SNP	C	C	A	rs201417569		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr8:142437157C>A	ENST00000521578.1	+	4	1262	c.317C>A	c.(316-318)gCg>gAg	p.A106E	PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000520105.1_Missense_Mutation_p.A106E|PTP4A3_ENST00000349124.1_Missense_Mutation_p.A106E|PTP4A3_ENST00000329397.1_Missense_Mutation_p.A106E			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	106	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)	p.A106E(1)		endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			CACTGCGTGGCGGGCCTGGGC	0.677																																						uc003ywg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(316-318)GCG>GAG		protein tyrosine phosphatase type IVA, member 3							52.0	62.0	59.0					8																	142437157		2202	4296	6498	SO:0001583	missense	11156					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:142437157C>A	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.317C>A	8.37:g.142437157C>A	ENSP00000428976:p.Ala106Glu					PTP4A3_uc003ywh.1_Missense_Mutation_p.A106E|PTP4A3_uc010met.1_Intron	p.A106E	NM_032611	NP_116000	O75365	TP4A3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0474)		3	651	+	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		106			Tyrosine-protein phosphatase.		Q8IVN5|Q99849|Q9BTW5	Missense_Mutation	SNP	ENST00000521578.1	37	c.317C>A	CCDS6383.1	.	.	.	.	.	.	.	.	.	.	C	34	5.304422	0.95601	.	.	ENSG00000184489	ENST00000521578;ENST00000520105;ENST00000329397;ENST00000349124	D;T;D;T	0.85773	-2.03;0.66;-2.03;0.66	5.27	5.27	0.74061	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.95066	0.8402	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.994	D	0.96403	0.9298	10	0.87932	D	0	-3.4266	17.8229	0.88655	0.0:1.0:0.0:0.0	.	106;106	O75365-2;O75365	.;TP4A3_HUMAN	E	106	ENSP00000428976:A106E;ENSP00000428758:A106E;ENSP00000332274:A106E;ENSP00000331730:A106E	ENSP00000332274:A106E	A	+	2	0	PTP4A3	142506339	1.000000	0.71417	0.971000	0.41717	0.980000	0.70556	7.691000	0.84191	2.619000	0.88677	0.561000	0.74099	GCG		PASS	0.677	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		30	123	30	123	---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2718960	2718960	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:2718960C>A	ENST00000382082.3	+	1	1459	c.1221C>A	c.(1219-1221)tgC>tgA	p.C407*		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	407					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.C407*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TGCGCCAGTGCTACCAGCAGG	0.622																																						uc003zho.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1219-1221)TGC>TGA		potassium channel, subfamily V, member 2							66.0	52.0	57.0					9																	2718960		2203	4300	6503	SO:0001587	stop_gained	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718960C>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.1221C>A	9.37:g.2718960C>A	ENSP00000371514:p.Cys407*						p.C407*	NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1435	+			407			Cytoplasmic (Potential).		Q5T6X0	Nonsense_Mutation	SNP	ENST00000382082.3	37	c.1221C>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	40	7.936804	0.98571	.	.	ENSG00000168263	ENST00000382082	.	.	.	5.22	4.22	0.49857	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	10.7721	0.46330	0.0:0.8362:0.0:0.1638	.	.	.	.	X	407	.	ENSP00000371514:C407X	C	+	3	2	KCNV2	2708960	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.717000	0.47227	1.036000	0.39998	0.563000	0.77884	TGC		PASS	0.622	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		17	47	17	47	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18474278	18474278	+	Silent	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:18474278G>T	ENST00000380548.4	+	1	387	c.48G>T	c.(46-48)ctG>ctT	p.L16L	ADAMTSL1_ENST00000327883.7_Silent_p.L16L|ADAMTSL1_ENST00000380570.4_Silent_p.L16L|ADAMTSL1_ENST00000380566.4_Silent_p.L16L|ADAMTSL1_ENST00000431052.2_Silent_p.L16L|ADAMTSL1_ENST00000276935.6_Silent_p.L16L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	16						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L16L(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCCTCTTTCTGGCTTTCCTGC	0.498																																						uc003zne.3																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(46-48)CTG>CTT		ADAMTS-like 1 isoform 4 precursor							207.0	172.0	184.0					9																	18474278		2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18474278G>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.48G>T	9.37:g.18474278G>T						ADAMTSL1_uc003znb.2_Silent_p.L16L|ADAMTSL1_uc003znc.3_Silent_p.L16L	p.L16L	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	1	175	+			16					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.48G>T	CCDS47954.1																																																																																				PASS	0.498	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			14	124	14	124	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18776954	18776954	+	Silent	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:18776954C>T	ENST00000380548.4	+	19	3066	c.2727C>T	c.(2725-2727)atC>atT	p.I909I		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	909	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I909I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGCCCCTCATCACCTGGGAGA	0.672																																						uc003zne.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(2725-2727)ATC>ATT		ADAMTS-like 1 isoform 4 precursor							35.0	44.0	41.0					9																	18776954		2089	4208	6297	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18776954C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2727C>T	9.37:g.18776954C>T							p.I909I	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	2854	+			909			Ig-like C2-type 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.2727C>T	CCDS47954.1																																																																																				PASS	0.672	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			15	53	15	53	---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35712073	35712073	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:35712073G>A	ENST00000314888.9	-	28	3963	c.3610C>T	c.(3610-3612)Cct>Tct	p.P1204S	TLN1_ENST00000540444.1_Missense_Mutation_p.P1204S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1204					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.P1204S(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGCTGGCCAGGTAGGCAGCTG	0.582																																						uc003zxt.2																			1	Substitution - Missense(1)		lung(1)	lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(3610-3612)CCT>TCT		talin 1							46.0	39.0	41.0					9																	35712073		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35712073G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3610C>T	9.37:g.35712073G>A	ENSP00000316029:p.Pro1204Ser						p.P1204S	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		28	3964	-	all_epithelial(49;0.167)		1204					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.3610C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	36	5.600219	0.96614	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.19532	2.14;2.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52019	-0.8631	10	0.87932	D	0	-13.9534	20.0953	0.97838	0.0:0.0:1.0:0.0	.	1204	Q9Y490	TLN1_HUMAN	S	1204	ENSP00000316029:P1204S;ENSP00000442981:P1204S	ENSP00000316029:P1204S	P	-	1	0	TLN1	35702073	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	9.858000	0.99539	2.767000	0.95098	0.655000	0.94253	CCT		PASS	0.582	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		8	35	8	35	---	---	---	---
FAM74A7	100996582	broad.mit.edu	37	9	40716152	40716152	+	lincRNA	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:40716152A>G	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA														p.K102E(1)									TGTCCCGGAGAAGACATGGAG	0.493																																						uc010mmk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.							34.0	36.0	35.0					9																	40716152		2190	4277	6467			728495							g.chr9:40716152A>G																													9.37:g.40716152A>G								NR_026801					GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	1		+									RNA	SNP	ENST00000432614.1	37	c.629A>G																																																																																					PASS	0.493	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1			11	84	11	84	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90499904	90499904	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:90499904C>A	ENST00000325643.5	+	4	568	c.502C>A	c.(502-504)Cca>Aca	p.P168T		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	168	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P168T(1)									CGTGTGTAAACCAGTGCCTGC	0.637																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(502-504)CCA>ACA		chromosome 9 open reading frame 79							53.0	56.0	55.0					9																	90499904		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90499904C>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.502C>A	9.37:g.90499904C>A	ENSP00000322640:p.Pro168Thr					C9orf79_uc004apo.1_Intron	p.P168T	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	537	+			168			Pro-rich.		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.502C>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	9.589	1.125736	0.20959	.	.	ENSG00000177992	ENST00000325643	T	0.03468	3.92	2.35	-3.95	0.04118	.	1.036010	0.07700	N	0.940242	T	0.03915	0.0110	L	0.43152	1.355	0.09310	N	1	D	0.56035	0.974	P	0.50659	0.647	T	0.23013	-1.0200	10	0.11182	T	0.66	.	0.3291	0.00315	0.2151:0.2082:0.3028:0.2739	.	168	Q6ZUB1	CI079_HUMAN	T	168	ENSP00000322640:P168T	ENSP00000322640:P168T	P	+	1	0	C9orf79	89689724	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.849000	0.04322	-1.108000	0.03000	-0.362000	0.07510	CCA		PASS	0.637	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		22	114	22	114	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90503319	90503319	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:90503319G>T	ENST00000325643.5	+	4	3983	c.3917G>T	c.(3916-3918)aGg>aTg	p.R1306M		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1306					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R1306M(1)									GGCCCACCAAGGCAGTTTATG	0.587																																						uc004app.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3916-3918)AGG>ATG		chromosome 9 open reading frame 79							61.0	58.0	59.0					9																	90503319		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90503319G>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3917G>T	9.37:g.90503319G>T	ENSP00000322640:p.Arg1306Met						p.R1306M	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	3952	+			1306					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3917G>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	10.58	1.390916	0.25118	.	.	ENSG00000177992	ENST00000325643	T	0.05513	3.43	2.47	-4.94	0.03057	.	2.061170	0.02357	N	0.076538	T	0.16938	0.0407	L	0.49126	1.545	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.39461	-0.9613	10	0.66056	D	0.02	.	6.9003	0.24279	0.6734:0.147:0.1795:0.0	.	1306	Q6ZUB1	CI079_HUMAN	M	1306	ENSP00000322640:R1306M	ENSP00000322640:R1306M	R	+	2	0	C9orf79	89693139	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.264000	0.08658	-1.944000	0.01038	-0.136000	0.14681	AGG		PASS	0.587	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		12	54	12	54	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95274313	95274313	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:95274313T>C	ENST00000344604.5	-	5	1299	c.1150A>G	c.(1150-1152)Ata>Gta	p.I384V	ECM2_ENST00000444490.2_Missense_Mutation_p.I362V|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	384					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.I384V(1)|p.I362V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTTGGACCTATGCCTGAAGAA	0.408																																						uc004ash.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1150-1152)ATA>GTA		extracellular matrix protein 2 precursor							174.0	156.0	162.0					9																	95274313		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95274313T>C	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1150A>G	9.37:g.95274313T>C	ENSP00000344758:p.Ile384Val					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.I362V|ECM2_uc011lty.1_Missense_Mutation_p.I384V|ECM2_uc004asg.2_Missense_Mutation_p.I362V	p.I384V	NM_001393	NP_001384	O94769	ECM2_HUMAN			5	1215	-			384			LRR 1.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.1150A>G	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177391	0.38413	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.62498	0.02;0.02	5.68	4.54	0.55810	.	0.248129	0.46145	N	0.000311	T	0.51244	0.1663	L	0.41824	1.3	0.45634	D	0.998569	B;B;B	0.18968	0.006;0.032;0.004	B;B;B	0.26310	0.03;0.068;0.017	T	0.48692	-0.9013	10	0.49607	T	0.09	.	6.8488	0.24003	0.0:0.0801:0.1498:0.7701	.	384;362;362	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	V	362;384	ENSP00000393971:I362V;ENSP00000344758:I384V	ENSP00000344758:I384V	I	-	1	0	ECM2	94314134	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.200000	0.51051	1.090000	0.41315	0.528000	0.53228	ATA		PASS	0.408	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		13	69	13	69	---	---	---	---
FGD3	89846	broad.mit.edu	37	9	95797812	95797812	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:95797812G>T	ENST00000375482.3	+	18	2615	c.2119G>T	c.(2119-2121)Gcc>Tcc	p.A707S	FGD3_ENST00000416701.2_Missense_Mutation_p.A706S|FGD3_ENST00000538555.1_Missense_Mutation_p.A310S|FGD3_ENST00000337352.6_Missense_Mutation_p.A707S	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	707					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A707S(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGGGGACACGGCCCAGGACAG	0.662																																						uc004asw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(2119-2121)GCC>TCC		FYVE, RhoGEF and PH domain containing 3							28.0	35.0	33.0					9																	95797812		2095	4211	6306	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95797812G>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.2119G>T	9.37:g.95797812G>T	ENSP00000364631:p.Ala707Ser					FGD3_uc004asx.2_Missense_Mutation_p.A706S|FGD3_uc004asz.2_Missense_Mutation_p.A707S|FGD3_uc011luc.1_Missense_Mutation_p.A310S	p.A707S	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN			18	2747	+			707					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.2119G>T	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	G	5.276	0.236411	0.10023	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352;ENST00000538555	T;T;T;T	0.72282	-0.53;-0.52;-0.53;-0.64	4.25	0.202	0.15190	.	0.427452	0.17427	N	0.174619	T	0.46852	0.1414	N	0.19112	0.55	0.09310	N	1	B;B	0.16603	0.018;0.007	B;B	0.14578	0.011;0.007	T	0.18524	-1.0334	10	0.26408	T	0.33	.	3.6301	0.08128	0.301:0.0:0.5249:0.1741	.	706;707	F8W7P2;Q5JSP0	.;FGD3_HUMAN	S	707;706;707;310	ENSP00000364631:A707S;ENSP00000413833:A706S;ENSP00000336914:A707S;ENSP00000442560:A310S	ENSP00000336914:A707S	A	+	1	0	FGD3	94837633	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.489000	0.22387	-0.067000	0.12976	0.561000	0.74099	GCC		PASS	0.662	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		14	62	14	62	---	---	---	---
CORO2A	7464	broad.mit.edu	37	9	100888860	100888860	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:100888860C>T	ENST00000343933.5	-	11	1674	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	CORO2A_ENST00000375077.4_Missense_Mutation_p.E473K	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	473					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)	p.E473K(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGGGGGCATTCGAAAACGTCA	0.567																																						uc004ayl.2																			1	Substitution - Missense(1)	p.E473D(1)	lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(1417-1419)GAA>AAA		coronin, actin binding protein, 2A							117.0	122.0	120.0					9																	100888860		2203	4300	6503	SO:0001583	missense	7464				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	g.chr9:100888860C>T	U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1417G>A	9.37:g.100888860C>T	ENSP00000343746:p.Glu473Lys					CORO2A_uc004aym.2_Missense_Mutation_p.E473K|CORO2A_uc004ayk.2_Missense_Mutation_p.E120K	p.E473K	NM_003389	NP_003380	Q92828	COR2A_HUMAN			11	1683	-		Acute lymphoblastic leukemia(62;0.0559)	473					Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	ENST00000343933.5	37	c.1417G>A	CCDS6735.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946635	0.92593	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.74421	-0.84;-0.84	5.23	4.33	0.51752	.	0.386521	0.28209	N	0.016195	T	0.79964	0.4537	L	0.58810	1.83	0.43583	D	0.995929	D;D	0.61697	0.99;0.99	P;P	0.58391	0.838;0.838	T	0.78892	-0.2025	10	0.39692	T	0.17	-8.4159	12.913	0.58190	0.0:0.9198:0.0:0.0802	.	473;473	Q92828;A8K9S3	COR2A_HUMAN;.	K	473	ENSP00000343746:E473K;ENSP00000364218:E473K	ENSP00000343746:E473K	E	-	1	0	CORO2A	99928681	0.964000	0.33143	0.963000	0.40424	0.982000	0.71751	2.911000	0.48774	1.205000	0.43262	0.561000	0.74099	GAA		PASS	0.567	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1	NM_003389		29	202	29	202	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109690746	109690746	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:109690746G>T	ENST00000277225.5	+	3	4842	c.4553G>T	c.(4552-4554)aGg>aTg	p.R1518M	ZNF462_ENST00000457913.1_Missense_Mutation_p.R1518M|ZNF462_ENST00000441147.2_Missense_Mutation_p.R363M			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1518					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1518M(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TACAAATGCAGGCATTGCCCA	0.542																																						uc004bcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(4552-4554)AGG>ATG		zinc finger protein 462							103.0	81.0	88.0					9																	109690746		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109690746G>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.4553G>T	9.37:g.109690746G>T	ENSP00000277225:p.Arg1518Met					ZNF462_uc010mto.2_Missense_Mutation_p.R1366M|ZNF462_uc004bda.2_Missense_Mutation_p.R1366M	p.R1518M	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	4842	+			1518			C2H2-type 13.		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.4553G>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306877	0.60305	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.06768	3.26;3.64;3.74;3.82	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.01966	-1.1238	10	0.62326	D	0.03	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	1518;1518	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	M	1518;1518;401;363	ENSP00000277225:R1518M;ENSP00000414570:R1518M;ENSP00000363818:R401M;ENSP00000397306:R363M	ENSP00000277225:R1518M	R	+	2	0	ZNF462	108730567	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.836000	0.86788	2.837000	0.97791	0.655000	0.94253	AGG		PASS	0.542	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		14	56	14	56	---	---	---	---
AMBP	259	broad.mit.edu	37	9	116836319	116836319	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:116836319A>G	ENST00000265132.3	-	4	713	c.451T>C	c.(451-453)Tac>Cac	p.Y151H		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	151					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)	p.Y151H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCTTTACCGTAGAGCTTGGCA	0.473																																						uc004bie.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(451-453)TAC>CAC		alpha-1-microglobulin/bikunin preproprotein	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						201.0	162.0	176.0					9																	116836319		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116836319A>G	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.451T>C	9.37:g.116836319A>G	ENSP00000265132:p.Tyr151His					AMBP_uc011lxk.1_Missense_Mutation_p.Y92H|AMBP_uc010mvc.1_RNA	p.Y151H	NM_001633	NP_001624	P02760	AMBP_HUMAN			4	714	-			151					P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.451T>C	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.933666	0.52866	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	D	0.84516	-1.86	4.85	4.85	0.62838	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.065738	0.64402	D	0.000006	D	0.92606	0.7651	M	0.88241	2.94	0.48901	D	0.999727	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.955	D	0.93428	0.6783	10	0.87932	D	0	.	10.8467	0.46746	1.0:0.0:0.0:0.0	.	92;151	B7Z8R6;P02760	.;AMBP_HUMAN	H	151;92	ENSP00000265132:Y151H	ENSP00000265132:Y151H	Y	-	1	0	AMBP	115876140	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	5.746000	0.68681	1.834000	0.53371	0.523000	0.50628	TAC		PASS	0.473	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		7	78	7	78	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117827163	117827163	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:117827163C>G	ENST00000350763.4	-	11	3661	c.3250G>C	c.(3250-3252)Gag>Cag	p.E1084Q	TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.E1084Q|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.E1084Q|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1084	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.E1084Q(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGCCAACCTCAGTCACGGTG	0.517																																						uc004bjj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(3250-3252)GAG>CAG		tenascin C precursor							83.0	76.0	78.0					9																	117827163		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117827163C>G		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3250G>C	9.37:g.117827163C>G	ENSP00000265131:p.Glu1084Gln					TNC_uc010mvf.2_Missense_Mutation_p.E1084Q	p.E1084Q	NM_002160	NP_002151	P24821	TENA_HUMAN			11	3612	-			1084			Fibronectin type-III 6.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.3250G>C	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.33|13.33	2.206354|2.206354	0.39003|0.39003	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613|ENST00000544972	T;T;T|.	0.58797|.	0.31;0.31;0.31|.	5.69|5.69	0.266|0.266	0.15617|0.15617	Fibronectin, type III (4);|.	0.622177|.	0.15806|.	N|.	0.243715|.	T|.	0.61813|.	0.2377|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;B|.	0.41188|.	0.741;0.302|.	P;B|.	0.48873|.	0.593;0.297|.	T|.	0.55860|.	-0.8074|.	10|.	0.45353|.	T|.	0.12|.	.|.	6.3911|6.3911	0.21587|0.21587	0.0:0.4332:0.1202:0.4465|0.0:0.4332:0.1202:0.4465	.|.	1084;1084|.	E9PC84;P24821|.	.;TENA_HUMAN|.	Q|S	1084|10	ENSP00000265131:E1084Q;ENSP00000339553:E1084Q;ENSP00000411406:E1084Q|.	ENSP00000339553:E1084Q|.	E|X	-|-	1|2	0|2	TNC|TNC	116866984|116866984	0.059000|0.059000	0.20769|0.20769	0.992000|0.992000	0.48379|0.48379	0.854000|0.854000	0.48673|0.48673	-0.241000|-0.241000	0.08940|0.08940	-0.221000|-0.221000	0.09973|0.09973	-0.140000|-0.140000	0.14226|0.14226	GAG|TGA		PASS	0.517	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		17	98	17	98	---	---	---	---
CERCAM	51148	broad.mit.edu	37	9	131191110	131191110	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:131191110G>A	ENST00000372838.4	+	7	1359	c.961G>A	c.(961-963)Gag>Aag	p.E321K	CERCAM_ENST00000372842.1_Missense_Mutation_p.E243K|RP11-339B21.10_ENST00000610052.1_RNA	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	321					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.E243K(1)|p.E321K(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						AGGGTTTGACGAGGTAAGTCC	0.637																																						uc004buz.3																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(961-963)GAG>AAG		cerebral endothelial cell adhesion molecule 1							48.0	47.0	47.0					9																	131191110		2203	4300	6503	SO:0001583	missense	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131191110G>A	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.961G>A	9.37:g.131191110G>A	ENSP00000361929:p.Glu321Lys					CERCAM_uc004buy.1_Missense_Mutation_p.E243K|CERCAM_uc010mxz.2_Missense_Mutation_p.E243K|CERCAM_uc010mya.1_Missense_Mutation_p.E162K	p.E321K	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN			7	1359	+			321					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	ENST00000372838.4	37	c.961G>A	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	G	37	6.377929	0.97520	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	T;T	0.76709	-1.03;-1.04	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.72260	0.3438	L	0.40543	1.245	0.80722	D	1	P	0.42973	0.796	B	0.40782	0.34	T	0.72323	-0.4328	10	0.33940	T	0.23	-23.9141	17.3994	0.87455	0.0:0.0:1.0:0.0	.	321	Q5T4B2	GT253_HUMAN	K	243;321;274	ENSP00000361933:E243K;ENSP00000361929:E321K	ENSP00000361929:E321K	E	+	1	0	CERCAM	130230931	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.165000	0.77544	2.454000	0.82982	0.555000	0.69702	GAG		PASS	0.637	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		10	64	10	64	---	---	---	---
FCN1	2219	broad.mit.edu	37	9	137809684	137809684	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr9:137809684G>A	ENST00000371806.3	-	1	125	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	12					cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.L12F(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AGGACAGCGAGCCCCCGGGCC	0.587																																						uc004cfi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(34-36)CTC>TTC		ficolin 1 precursor							87.0	84.0	85.0					9																	137809684		2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137809684G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.34C>T	9.37:g.137809684G>A	ENSP00000360871:p.Leu12Phe						p.L12F	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	1	126	-		Myeloproliferative disorder(178;0.0333)	12					Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.34C>T	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372304	0.24857	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.83419	-1.72	4.24	1.05	0.20165	.	.	.	.	.	T	0.68604	0.3019	L	0.39898	1.24	0.09310	N	1	P	0.43633	0.813	B	0.36378	0.223	T	0.61207	-0.7109	9	0.42905	T	0.14	.	1.6765	0.02823	0.1282:0.2048:0.4574:0.2096	.	12	O00602	FCN1_HUMAN	F	12	ENSP00000360871:L12F	ENSP00000308877:L12F	L	-	1	0	FCN1	136949505	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.096000	0.11059	0.865000	0.35603	0.579000	0.79373	CTC		PASS	0.587	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		28	121	28	121	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48389526	48389526	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr10:48389526G>C	ENST00000224600.4	-	1	1465	c.1352C>G	c.(1351-1353)tCc>tGc	p.S451C	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	451	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.S451C(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCCAGGACGGAGGCGTCAGC	0.622																																						uc001jez.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(1351-1353)TCC>TGC		retinol-binding protein 3 precursor	Vitamin A(DB00162)						64.0	57.0	59.0					10																	48389526		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389526G>C	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1352C>G	10.37:g.48389526G>C	ENSP00000224600:p.Ser451Cys						p.S451C	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1466	-			451			4 X approximate tandem repeats.|2.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1352C>G	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800785	0.31869	.	.	ENSG00000107618	ENST00000224600	T	0.65916	-0.18	5.29	5.29	0.74685	Interphotoreceptor retinol-binding (2);	0.126753	0.53938	D	0.000057	T	0.81250	0.4783	M	0.82923	2.615	0.37525	D	0.917692	D	0.89917	1.0	D	0.80764	0.994	D	0.85967	0.1474	10	0.87932	D	0	-6.9163	17.9103	0.88931	0.0:0.0:1.0:0.0	.	451	P10745	RET3_HUMAN	C	451	ENSP00000224600:S451C	ENSP00000224600:S451C	S	-	2	0	RBP3	48009532	1.000000	0.71417	0.039000	0.18376	0.142000	0.21351	6.777000	0.75028	2.483000	0.83821	0.561000	0.74099	TCC		PASS	0.622	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		5	40	5	40	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55721612	55721612	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr10:55721612A>G	ENST00000320301.6	-	22	3303	c.2909T>C	c.(2908-2910)gTa>gCa	p.V970A	PCDH15_ENST00000395445.1_Missense_Mutation_p.V977A|PCDH15_ENST00000373965.2_Missense_Mutation_p.V977A|PCDH15_ENST00000395430.1_Missense_Mutation_p.V970A|PCDH15_ENST00000395438.1_Missense_Mutation_p.V970A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V970A|PCDH15_ENST00000414778.1_Missense_Mutation_p.V975A|PCDH15_ENST00000437009.1_Missense_Mutation_p.V899A|PCDH15_ENST00000395432.2_Missense_Mutation_p.V933A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.V948A|PCDH15_ENST00000409834.1_Missense_Mutation_p.V581A	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	970	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.V975A(2)|p.V970A(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGAAACTGTACATCATCTAC	0.328										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2908-2910)GTA>GCA		protocadherin 15 isoform CD1-4 precursor							118.0	115.0	116.0					10																	55721612		2203	4299	6502	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55721612A>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2909T>C	10.37:g.55721612A>G	ENSP00000322604:p.Val970Ala	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.V975A|PCDH15_uc010qhr.1_Missense_Mutation_p.V970A|PCDH15_uc010qhs.1_Missense_Mutation_p.V982A|PCDH15_uc010qht.1_Missense_Mutation_p.V977A|PCDH15_uc010qhu.1_Missense_Mutation_p.V970A|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.V970A|PCDH15_uc010qhw.1_Missense_Mutation_p.V933A|PCDH15_uc010qhx.1_Missense_Mutation_p.V899A|PCDH15_uc010qhy.1_Missense_Mutation_p.V975A|PCDH15_uc010qhz.1_Missense_Mutation_p.V970A|PCDH15_uc010qia.1_Missense_Mutation_p.V948A|PCDH15_uc010qib.1_Missense_Mutation_p.V948A	p.V970A	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			22	3304	-		Melanoma(3;0.117)|Lung SC(717;0.238)	970			Extracellular (Potential).|Cadherin 9.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2909T>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356596	0.24598	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.04	2.56	0.30785	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33381	0.0861	N	0.12961	0.28	0.09310	N	0.999993	P;B;B;B;B;B;P;B;B;P;B;B;B	0.41524	0.753;0.389;0.389;0.389;0.233;0.389;0.753;0.084;0.34;0.542;0.232;0.14;0.389	P;B;B;B;B;B;P;B;B;B;B;B;B	0.45712	0.491;0.232;0.314;0.314;0.232;0.232;0.491;0.103;0.193;0.388;0.193;0.103;0.232	T	0.08680	-1.0710	9	0.25106	T	0.35	.	8.1543	0.31160	0.7358:0.1341:0.0:0.1301	.	948;970;970;975;899;933;970;970;977;977;970;975;970	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	A	977;975;970;970;581;977;933;970;948;970;970;975;899	ENSP00000363076:V977A;ENSP00000410304:V975A;ENSP00000378826:V970A;ENSP00000386693:V581A;ENSP00000378832:V977A;ENSP00000378820:V933A;ENSP00000354950:V970A;ENSP00000378821:V948A;ENSP00000322604:V970A;ENSP00000378818:V970A;ENSP00000412628:V899A	ENSP00000322604:V970A	V	-	2	0	PCDH15	55391618	0.045000	0.20229	0.998000	0.56505	0.571000	0.35966	1.354000	0.34056	1.906000	0.55180	0.383000	0.25322	GTA		PASS	0.328	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		11	79	11	79	---	---	---	---
DDX50	79009	broad.mit.edu	37	10	70695820	70695820	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr10:70695820G>T	ENST00000373585.3	+	11	1687	c.1580G>T	c.(1579-1581)aGc>aTc	p.S527I	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	527						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.S527I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AAATCTAAAAGCATGGATGCC	0.328																																						uc001jou.2																			1	Substitution - Missense(1)	p.S527S(1)	lung(1)	ovary(1)	1						c.(1579-1581)AGC>ATC		nucleolar protein GU2							69.0	65.0	66.0					10																	70695820		2203	4297	6500	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70695820G>T	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1580G>T	10.37:g.70695820G>T	ENSP00000362687:p.Ser527Ile					DDX50_uc010qjc.1_Missense_Mutation_p.S527I	p.S527I	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN			11	1687	+			527					Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.1580G>T	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581562	0.86748	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.20200	2.09	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	M	0.65498	2.005	0.80722	D	1	P	0.37985	0.613	B	0.41466	0.358	T	0.01930	-1.1245	10	0.31617	T	0.26	-7.5312	18.6472	0.91415	0.0:0.0:1.0:0.0	.	527	Q9BQ39	DDX50_HUMAN	I	527	ENSP00000362687:S527I	ENSP00000362687:S527I	S	+	2	0	DDX50	70365826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.134000	0.94467	2.725000	0.93324	0.591000	0.81541	AGC		PASS	0.328	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		4	47	4	47	---	---	---	---
SFTPA2	729238	broad.mit.edu	37	10	81317074	81317074	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr10:81317074C>A	ENST00000372325.2	-	6	722	c.638G>T	c.(637-639)cGa>cTa	p.R213L	SFTPA2_ENST00000372327.5_Missense_Mutation_p.R213L	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	213	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.R213L(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGCTCCCCTCGGTACCAGTT	0.547									Pulmonary Fibrosis, Idiopathic																													uc001kal.3																			1	Substitution - Missense(1)		lung(1)		0						c.(637-639)CGA>CTA		RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;							240.0	232.0	235.0					10																	81317074		2203	4296	6499	SO:0001583	missense	729238	Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia	cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding	g.chr10:81317074C>A		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"""Collectins"""	10799	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A2A"""	178642	"""surfactant, pulmonary-associated protein A2"""				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.638G>T	10.37:g.81317074C>A	ENSP00000361400:p.Arg213Leu					SFTPA2_uc001kan.3_Missense_Mutation_p.R213L	p.R213L	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	735	-	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		213			C-type lectin.		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	ENST00000372325.2	37	c.638G>T	CCDS41540.1	.	.	.	.	.	.	.	.	.	.	N	4.670	0.124542	0.08931	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327	T;T	0.57107	0.42;0.42	2.81	0.511	0.16989	.	0.642320	0.15310	N	0.269134	T	0.31918	0.0812	N	0.21545	0.675	0.21355	N	0.999716	B	0.02656	0.0	B	0.06405	0.002	T	0.14254	-1.0479	10	0.40728	T	0.16	0.0426	4.8116	0.13345	0.0:0.2054:0.4016:0.393	.	213	E3VLC8	.	L	213;179;213	ENSP00000361400:R213L;ENSP00000361402:R213L	ENSP00000361400:R213L	R	-	2	0	SFTPA2	80987080	0.000000	0.05858	0.998000	0.56505	0.181000	0.23173	-1.493000	0.02298	0.290000	0.22444	-0.544000	0.04233	CGA		PASS	0.547	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048961.1	NM_001098668		67	261	67	261	---	---	---	---
LRIT2	340745	broad.mit.edu	37	10	85981835	85981835	+	Silent	SNP	G	G	A	rs140185624	byFrequency	TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr10:85981835G>A	ENST00000372113.4	-	3	1499	c.1494C>T	c.(1492-1494)cgC>cgT	p.R498R	LRIT2_ENST00000538192.1_Silent_p.R508R	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	498						integral component of membrane (GO:0016021)		p.R498R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GAAGACAGCCGCGCAGGACCC	0.632																																						uc001kcy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1492-1494)CGC>CGT		leucine rich repeat containing 22 precursor		G		1,4405		0,1,2202	36.0	43.0	41.0		1494	2.8	0.0	10	dbSNP_134	41	2,8596		0,2,4297	no	coding-synonymous	LRIT2	NM_001017924.2		0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231		498/551	85981835	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	340745					integral to membrane		g.chr10:85981835G>A		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1494C>T	10.37:g.85981835G>A						LRIT2_uc010qmc.1_Silent_p.R508R	p.R498R	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			3	1502	-			498					B7ZME6	Silent	SNP	ENST00000372113.4	37	c.1494C>T	CCDS31234.1																																																																																				PASS	0.632	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		23	90	23	90	---	---	---	---
DPCD	25911	broad.mit.edu	37	10	103354462	103354462	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr10:103354462G>C	ENST00000370151.4	+	2	161	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	DPCD_ENST00000370147.1_Missense_Mutation_p.E38Q|DPCD_ENST00000470165.1_3'UTR|DPCD_ENST00000370148.2_Missense_Mutation_p.E38Q	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	38					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)		p.E38Q(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						GGAAATGGCTGAAGAATATGA	0.473																																						uc001ktn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(112-114)GAA>CAA		DPCD protein							195.0	186.0	189.0					10																	103354462		2203	4300	6503	SO:0001583	missense	25911						protein binding	g.chr10:103354462G>C		CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.112G>C	10.37:g.103354462G>C	ENSP00000359170:p.Glu38Gln						p.E38Q	NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN			2	117	+			38					A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Missense_Mutation	SNP	ENST00000370151.4	37	c.112G>C	CCDS7514.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529808	0.85706	.	.	ENSG00000166171	ENST00000370151;ENST00000370147;ENST00000370148;ENST00000370149;ENST00000434727	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.71	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80596	-0.1312	10	0.87932	D	0	-0.0013	13.4258	0.61024	0.0759:0.0:0.9241:0.0	.	38	Q9BVM2	DPCD_HUMAN	Q	38;38;38;3;2	ENSP00000359170:E38Q;ENSP00000359166:E38Q;ENSP00000359167:E38Q;ENSP00000403505:E2Q	ENSP00000359166:E38Q	E	+	1	0	DPCD	103344452	1.000000	0.71417	0.955000	0.39395	0.979000	0.70002	8.665000	0.91144	1.431000	0.47355	0.561000	0.74099	GAA		PASS	0.473	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049958.2			21	81	21	81	---	---	---	---
PNLIPRP1	5407	broad.mit.edu	37	10	118354352	118354353	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr10:118354352_118354353GG>TT	ENST00000528052.1	+	5	512_513	c.441_442GG>TT	c.(439-444)gtGGcc>gtTTcc	p.A148S	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.A148S|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.A148S			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	148					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.A148S(2)|p.V147V(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GCGCCCAGGTGGCCCAGATGCT	0.599																																						uc001lco.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|breast(1)	2						c.(439-441)GTG>GTT|c.(442-444)GCC>TCC		pancreatic lipase-related protein 1 precursor																																				SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118354352G>T|g.chr10:118354353G>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	Exception_encountered	10.37:g.118354352_118354353delinsTT	ENSP00000433933:p.Ala148Ser					PNLIPRP1_uc001lcp.2_Silent_p.V147V|PNLIPRP1_uc009xys.1_RNA|PNLIPRP1_uc001lcp.2_Missense_Mutation_p.A148S|PNLIPRP1_uc009xys.1_RNA	p.V147V|p.A148S	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	5	459|460	+			147|148					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent|Missense_Mutation	SNP	ENST00000528052.1	37	c.441G>T|c.442G>T	CCDS7595.1																																																																																				PASS	0.599	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		5	51|49	5	49	---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134008372	134008372	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr10:134008372G>A	ENST00000338492.4	+	4	501	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	DPYSL4_ENST00000368629.1_Missense_Mutation_p.G36S|DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368627.1_Missense_Mutation_p.G36S	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	113					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.G113S(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CCCCGACACGGGTGTGAGCCT	0.657																																						uc009ybb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(337-339)GGT>AGT		dihydropyrimidinase-like 4							75.0	69.0	71.0					10																	134008372		2203	4299	6502	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134008372G>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.337G>A	10.37:g.134008372G>A	ENSP00000339850:p.Gly113Ser						p.G113S	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	4	491	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	113					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.337G>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666809	0.67814	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.90261	-2.64;-2.64;-2.64	4.55	3.64	0.41730	Amidohydrolase 1 (1);	0.051736	0.85682	N	0.000000	D	0.93677	0.7980	M	0.87827	2.91	0.58432	D	0.999999	P	0.51147	0.942	P	0.53313	0.723	D	0.93802	0.7102	10	0.59425	D	0.04	-19.9943	12.2827	0.54774	0.0831:0.0:0.9169:0.0	.	113	O14531	DPYL4_HUMAN	S	113;36;36	ENSP00000339850:G113S;ENSP00000357618:G36S;ENSP00000357616:G36S	ENSP00000339850:G113S	G	+	1	0	DPYSL4	133858362	1.000000	0.71417	0.046000	0.18839	0.053000	0.15095	9.112000	0.94314	1.145000	0.42336	0.603000	0.83216	GGT		PASS	0.657	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			19	80	19	80	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1098686	1098686	+	Silent	SNP	C	C	T	rs56034260	byFrequency	TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:1098686C>T	ENST00000441003.2	+	37	7083	c.7056C>T	c.(7054-7056)taC>taT	p.Y2352Y	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4714					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.Y2352Y(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCACTACTACGATGCCTGCG	0.652													C|||	27	0.00539137	0.0204	0.0	5008	,	,		18688	0.0		0.0	False		,,,				2504	0.0					uc001lsx.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(14140-14142)TAC>TAT		mucin 2 precursor	Pranlukast(DB01411)	C		56,4172		0,56,2058	23.0	28.0	26.0		7041	-1.3	0.9	11	dbSNP_129	26	2,8464		0,2,4231	no	coding-synonymous	MUC2	NM_002457.2		0,58,6289	TT,TC,CC		0.0236,1.3245,0.4569		2347/2813	1098686	58,12636	2114	4233	6347	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1098686C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7056C>T	11.37:g.1098686C>T							p.Y4714Y	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	40	14169	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4714					Q14878	Silent	SNP	ENST00000441003.2	37	c.14142C>T																																																																																					PASS	0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	21	6	21	---	---	---	---
OR52I1	390037	broad.mit.edu	37	11	4615724	4615724	+	Silent	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:4615724C>T	ENST00000530443.2	+	1	456	c.456C>T	c.(454-456)gtC>gtT	p.V152V	OR52I1_ENST00000450052.2_Silent_p.V176V	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V177V(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTATGGCCGTCACCATCAGAG	0.483																																						uc010qyi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(454-456)GTC>GTT		olfactory receptor, family 52, subfamily I,							130.0	115.0	120.0					11																	4615724		2201	4298	6499	SO:0001819	synonymous_variant	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615724C>T	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.456C>T	11.37:g.4615724C>T							p.V152V	NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	456	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	152			Helical; Name=4; (Potential).		Q6IF91	Silent	SNP	ENST00000530443.2	37	c.456C>T	CCDS59223.1																																																																																				PASS	0.483	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		37	86	37	86	---	---	---	---
OR52N5	390075	broad.mit.edu	37	11	5799488	5799488	+	Missense_Mutation	SNP	A	A	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:5799488A>C	ENST00000317093.2	-	1	409	c.377T>G	c.(376-378)cTc>cGc	p.L126R	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L126R(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TAGAGCCATGAGCATGAGCAC	0.488																																						uc010qzn.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(376-378)CTC>CGC		olfactory receptor, family 52, subfamily N,							114.0	97.0	103.0					11																	5799488		2121	4083	6204	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799488A>C	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.377T>G	11.37:g.5799488A>C	ENSP00000322866:p.Leu126Arg					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.L126R	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	377	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	126			Helical; Name=3; (Potential).		B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.377T>G	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.032902	0.54790	.	.	ENSG00000181009	ENST00000317093	T	0.03330	3.97	3.7	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28624	U	0.014697	T	0.17109	0.0411	M	0.89478	3.035	0.29101	N	0.881481	D	0.89917	1.0	D	0.91635	0.999	T	0.05037	-1.0910	10	0.87932	D	0	.	4.9628	0.14076	0.7802:0.0:0.2198:0.0	.	126	Q8NH56	O52N5_HUMAN	R	126	ENSP00000322866:L126R	ENSP00000322866:L126R	L	-	2	0	OR52N5	5756064	0.132000	0.22450	1.000000	0.80357	0.970000	0.65996	1.254000	0.32897	1.679000	0.50963	0.405000	0.27470	CTC		PASS	0.488	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		9	78	9	78	---	---	---	---
TRAF6	7189	broad.mit.edu	37	11	36520129	36520129	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:36520129C>T	ENST00000526995.1	-	3	604	c.358G>A	c.(358-360)Gac>Aac	p.D120N	TRAF6_ENST00000348124.5_Missense_Mutation_p.D120N|TRAF6_ENST00000529150.1_5'Flank	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	120	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D120N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCAAAATTGTCTGGAAATAGT	0.353																																						uc001mwr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(358-360)GAC>AAC		TNF receptor-associated factor 6							114.0	106.0	108.0					11																	36520129		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36520129C>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.358G>A	11.37:g.36520129C>T	ENSP00000433623:p.Asp120Asn					TRAF6_uc001mws.1_Missense_Mutation_p.D120N	p.D120N	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN			4	698	-	all_lung(20;0.211)	all_hematologic(20;0.107)	120			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.358G>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322245	0.95708	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	D;D	0.84589	-1.87;-1.87	5.43	4.51	0.55191	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94019	0.8084	H	0.94423	3.535	0.80722	D	1	D	0.60575	0.988	D	0.63488	0.915	D	0.95778	0.8814	10	0.87932	D	0	-17.2772	16.551	0.84473	0.0:0.8693:0.1307:0.0	.	120	Q9Y4K3	TRAF6_HUMAN	N	120	ENSP00000433623:D120N;ENSP00000337853:D120N	ENSP00000337853:D120N	D	-	1	0	TRAF6	36476705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.745000	0.85046	1.412000	0.46977	0.655000	0.94253	GAC		PASS	0.353	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		18	56	18	56	---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47834559	47834559	+	Silent	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:47834559G>A	ENST00000378460.2	-	15	1873	c.1827C>T	c.(1825-1827)tgC>tgT	p.C609C	NUP160_ENST00000531016.1_5'Flank|NUP160_ENST00000528501.1_Silent_p.C173C|NUP160_ENST00000530326.1_Silent_p.C495C|NUP160_ENST00000528071.1_Silent_p.C495C	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	609					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.C609C(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCAGCCGGAGGCATTTTATAA	0.378																																						uc001ngm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1825-1827)TGC>TGT		nucleoporin 160kDa							70.0	69.0	70.0					11																	47834559		2201	4298	6499	SO:0001819	synonymous_variant	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47834559G>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.1827C>T	11.37:g.47834559G>A						NUP160_uc009ylw.2_RNA	p.C609C	NM_015231	NP_056046	Q12769	NU160_HUMAN			15	1912	-			609					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	37	c.1827C>T	CCDS31484.1																																																																																				PASS	0.378	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		9	71	9	71	---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48149573	48149573	+	Silent	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:48149573G>C	ENST00000418331.2	+	7	1687	c.1335G>C	c.(1333-1335)ccG>ccC	p.P445P	PTPRJ_ENST00000440289.2_Silent_p.P445P	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	445	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.P445P(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGGGCACGCCGGGCTTCCTCC	0.602																																						uc001ngp.3																			2	Substitution - coding silent(2)		lung(2)	breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(1333-1335)CCG>CCC		protein tyrosine phosphatase, receptor type, J							100.0	87.0	91.0					11																	48149573		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48149573G>C	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1335G>C	11.37:g.48149573G>C						PTPRJ_uc001ngo.3_Silent_p.P445P	p.P445P	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			7	1690	+			445			Extracellular (Potential).|Fibronectin type-III 4.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.1335G>C	CCDS7945.1																																																																																				PASS	0.602	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			16	81	16	81	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55702966	55702966	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:55702966T>C	ENST00000301532.3	-	1	910	c.911A>G	c.(910-912)gAg>gGg	p.E304G		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	304					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E304G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGAACTTTCTCAGCTGCATC	0.333																																						uc010ris.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(910-912)GAG>GGG		olfactory receptor, family 5, subfamily I,							65.0	62.0	63.0					11																	55702966		2200	4294	6494	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55702966T>C	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.911A>G	11.37:g.55702966T>C	ENSP00000301532:p.Glu304Gly						p.E304G	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	911	-			304			Cytoplasmic (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.911A>G	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	T	3.700	-0.061664	0.07317	.	.	ENSG00000167825	ENST00000301532	T	0.36699	1.24	4.96	2.64	0.31445	.	0.131804	0.34411	N	0.003987	T	0.12518	0.0304	N	0.01250	-0.93	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.19095	-1.0316	10	0.56958	D	0.05	.	7.38	0.26849	0.0:0.184:0.0:0.816	.	304	Q13606	OR5I1_HUMAN	G	304	ENSP00000301532:E304G	ENSP00000301532:E304G	E	-	2	0	OR5I1	55459542	0.000000	0.05858	0.009000	0.14445	0.025000	0.11179	-0.172000	0.09868	0.839000	0.34971	0.523000	0.50628	GAG		PASS	0.333	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		7	33	7	33	---	---	---	---
OR5M1	390168	broad.mit.edu	37	11	56380541	56380541	+	Silent	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:56380541A>G	ENST00000526538.1	-	1	437	c.438T>C	c.(436-438)acT>acC	p.T146T		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T146T(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGTAAGGGATAGTGACCAGAC	0.448																																						uc001nja.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(436-438)ACT>ACC		olfactory receptor, family 5, subfamily M,							127.0	110.0	116.0					11																	56380541		1962	4165	6127	SO:0001819	synonymous_variant	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380541A>G	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.438T>C	11.37:g.56380541A>G							p.T146T	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	438	-			146			Helical; Name=4; (Potential).		Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	c.438T>C	CCDS53631.1																																																																																				PASS	0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		12	64	12	64	---	---	---	---
OR1S2	219958	broad.mit.edu	37	11	57971606	57971606	+	Silent	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:57971606T>C	ENST00000302592.6	-	1	47	c.48A>G	c.(46-48)caA>caG	p.Q16Q		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q16Q(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTTGGTTTTCTTGATGCATAT	0.408																																						uc010rkb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(46-48)CAA>CAG		olfactory receptor, family 1, subfamily S,							137.0	135.0	136.0					11																	57971606		2201	4296	6497	SO:0001819	synonymous_variant	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971606T>C	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.48A>G	11.37:g.57971606T>C							p.Q16Q	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	48	-		Breast(21;0.0589)	16			Extracellular (Potential).		Q6IFG5|Q96R85	Silent	SNP	ENST00000302592.6	37	c.48A>G	CCDS31545.1																																																																																				PASS	0.408	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		23	74	23	74	---	---	---	---
EFEMP2	30008	broad.mit.edu	37	11	65638668	65638668	+	Silent	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:65638668G>A	ENST00000307998.6	-	4	557	c.327C>T	c.(325-327)tgC>tgT	p.C109C	EFEMP2_ENST00000528176.1_Silent_p.C109C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	109				AQHPNPCPP -> VNTQPLPT (in Ref. 2; AAC62108). {ECO:0000305}.	blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.C109C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		AGCCTGGTGGGCAGGGGTTGG	0.652																																						uc001ofy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(325-327)TGC>TGT		EGF-containing fibulin-like extracellular matrix							71.0	74.0	73.0					11																	65638668		2201	4296	6497	SO:0001819	synonymous_variant	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65638668G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.327C>T	11.37:g.65638668G>A						EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Silent_p.C109C	p.C109C	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	4	521	-			109	AQHPNPCPP -> VNTQPLPT (in Ref. 2; AAC62108).				A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	ENST00000307998.6	37	c.327C>T	CCDS8116.1																																																																																				PASS	0.652	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		20	94	20	94	---	---	---	---
B3GNT6	192134	broad.mit.edu	37	11	76750770	76750770	+	Missense_Mutation	SNP	G	G	C	rs201020853	byFrequency	TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:76750770G>C	ENST00000533140.1	+	2	313	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	B3GNT6_ENST00000421061.1_Intron|B3GNT6_ENST00000354301.5_Missense_Mutation_p.E59Q			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)	p.E59Q(1)		central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CGCGGCTGACGAGCCGCCCTC	0.736																																						uc001oxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(175-177)GAG>CAG		UDP-GlcNAc:betaGal							7.0	8.0	8.0					11																	76750770		1712	3790	5502	SO:0001583	missense	192134				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr11:76750770G>C	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.175G>C	11.37:g.76750770G>C	ENSP00000435352:p.Glu59Gln						p.E59Q	NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN			2	263	+			59			Lumenal (Potential).		Q4TTN0	Missense_Mutation	SNP	ENST00000533140.1	37	c.175G>C	CCDS53681.1	.	.	.	.	.	.	.	.	.	.	G	4.527	0.097755	0.08681	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000528622	T;T	0.26810	1.71;1.71	2.83	-1.64	0.08318	.	2.183220	0.04420	U	0.367528	T	0.11750	0.0286	N	0.08118	0	0.09310	N	0.999999	B	0.10296	0.003	B	0.01281	0.0	T	0.25950	-1.0117	10	0.12766	T	0.61	.	6.4759	0.22034	0.5878:0.0:0.4122:0.0	.	59	Q6ZMB0	B3GN6_HUMAN	Q	59	ENSP00000435352:E59Q;ENSP00000346256:E59Q	ENSP00000346256:E59Q	E	+	1	0	B3GNT6	76428418	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.244000	0.18124	-0.357000	0.08175	-0.407000	0.06327	GAG		PASS	0.736	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		4	9	4	9	---	---	---	---
KCTD14	65987	broad.mit.edu	37	11	77727937	77727937	+	Missense_Mutation	SNP	C	C	A	rs141944721	byFrequency	TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:77727937C>A	ENST00000353172.5	-	2	514	c.470G>T	c.(469-471)cGt>cTt	p.R157L	KCTD14_ENST00000533144.1_Missense_Mutation_p.R127L|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	157					protein homooligomerization (GO:0051260)			p.R157L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GGCTTCTGCACGTGCCAGGCG	0.547																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	uc001oyw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(469-471)CGT>CTT		potassium channel tetramerisation domain							89.0	86.0	87.0					11																	77727937		2200	4292	6492	SO:0001583	missense	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77727937C>A	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.470G>T	11.37:g.77727937C>A	ENSP00000316482:p.Arg157Leu						p.R157L	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		2	495	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		157					B2R9R8	Missense_Mutation	SNP	ENST00000353172.5	37	c.470G>T	CCDS8255.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931588	0.73442	.	.	ENSG00000151364	ENST00000353172;ENST00000533144	T;T	0.66995	-0.24;-0.22	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	M	0.79475	2.455	0.25117	N	0.990671	D	0.89917	1.0	D	0.87578	0.998	T	0.71892	-0.4455	10	0.14656	T	0.56	.	16.4381	0.83884	0.0:1.0:0.0:0.0	.	157	Q9BQ13	KCD14_HUMAN	L	157;127	ENSP00000316482:R157L;ENSP00000431155:R127L	ENSP00000316482:R157L	R	-	2	0	KCTD14	77405585	0.747000	0.28283	0.022000	0.16811	0.064000	0.16182	4.123000	0.57917	2.356000	0.79943	0.561000	0.74099	CGT		PASS	0.547	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		34	109	34	109	---	---	---	---
ABCG4	64137	broad.mit.edu	37	11	119024982	119024982	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:119024982G>A	ENST00000449422.2	+	4	557	c.369G>A	c.(367-369)atG>atA	p.M123I	ABCG4_ENST00000531739.1_Missense_Mutation_p.M123I|ABCG4_ENST00000307417.3_Missense_Mutation_p.M123I	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	123	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.M123I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGTCTGGAATGAAGGGGCAGA	0.547																																						uc001pvs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(367-369)ATG>ATA		ATP-binding cassette, subfamily G, member 4							74.0	65.0	68.0					11																	119024982		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119024982G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.369G>A	11.37:g.119024982G>A	ENSP00000406874:p.Met123Ile					ABCG4_uc009zar.2_Missense_Mutation_p.M123I	p.M123I	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	4	705	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	123			Cytoplasmic (Potential).|ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.369G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821138	0.50633	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.22	5.22	0.72569	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.124466	0.64402	D	0.000001	D	0.82554	0.5062	N	0.01640	-0.785	0.54753	D	0.999987	B	0.14438	0.01	B	0.15870	0.014	T	0.77923	-0.2406	10	0.22706	T	0.39	-33.6098	17.527	0.87803	0.0:0.0:1.0:0.0	.	123	Q9H172	ABCG4_HUMAN	I	123	ENSP00000304111:M123I;ENSP00000431915:M123I;ENSP00000406874:M123I;ENSP00000434318:M123I	ENSP00000304111:M123I	M	+	3	0	ABCG4	118530192	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.458000	0.97634	2.432000	0.82394	0.491000	0.48974	ATG		PASS	0.547	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		19	81	19	81	---	---	---	---
OR8B12	219858	broad.mit.edu	37	11	124413505	124413505	+	Silent	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:124413505A>G	ENST00000306842.2	-	1	70	c.46T>C	c.(46-48)Tta>Cta	p.L16L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L16L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGGTGGGTTAAGCCTTCGAGG	0.532																																						uc010sam.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(46-48)TTA>CTA		olfactory receptor, family 8, subfamily B,							38.0	42.0	41.0					11																	124413505		2200	4297	6497	SO:0001819	synonymous_variant	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413505A>G		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.46T>C	11.37:g.124413505A>G							p.L16L	NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	46	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	16			Extracellular (Potential).		B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	ENST00000306842.2	37	c.46T>C	CCDS31711.1																																																																																				PASS	0.532	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			14	75	14	75	---	---	---	---
NTM	50863	broad.mit.edu	37	11	132082018	132082019	+	Missense_Mutation	DNP	CT	CT	TC			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:132082018_132082019CT>TC	ENST00000374786.1	+	3	982_983	c.503_504CT>TC	c.(502-504)aCT>aTC	p.T168I	NTM_ENST00000374784.1_Missense_Mutation_p.T168I|NTM_ENST00000425719.2_Missense_Mutation_p.T168I|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.T168I|NTM_ENST00000427481.2_Missense_Mutation_p.T159I|NTM_ENST00000539799.1_Missense_Mutation_p.T168I	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	168	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T168I(4)|p.T168T(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CCTACGGTTACTTGGAGACACA	0.436																																						uc001qgp.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(502-504)ACT>ATT|c.(502-504)ACT>ACC		neurotrimin isoform 1																																				SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132082018C>T|g.chr11:132082019T>C	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	Exception_encountered	11.37:g.132082018_132082019delinsTC	ENSP00000363918:p.Thr168Ile					NTM_uc001qgm.2_Missense_Mutation_p.T168I|NTM_uc010sch.1_Missense_Mutation_p.T159I|NTM_uc010sci.1_Missense_Mutation_p.T168I|NTM_uc010scj.1_Missense_Mutation_p.T127I|NTM_uc001qgo.2_Missense_Mutation_p.T168I|NTM_uc001qgq.2_Missense_Mutation_p.T168I|NTM_uc001qgr.2_5'UTR|NTM_uc001qgm.2_Silent_p.T168T|NTM_uc010sch.1_Silent_p.T159T|NTM_uc010sci.1_Silent_p.T168T|NTM_uc010scj.1_Silent_p.T127T|NTM_uc001qgo.2_Silent_p.T168T|NTM_uc001qgq.2_Silent_p.T168T|NTM_uc001qgr.2_5'UTR	p.T168I|p.T168T	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			3	1167|1168	+			168			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation|Silent	SNP	ENST00000374786.1	37	c.503C>T|c.504T>C	CCDS8491.1																																																																																				PASS	0.436	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		17|16	50	16	50	---	---	---	---
NTM	50863	broad.mit.edu	37	11	132177700	132177700	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr11:132177700T>G	ENST00000374786.1	+	4	1123	c.644T>G	c.(643-645)gTa>gGa	p.V215G	NTM_ENST00000374784.1_Missense_Mutation_p.V215G|NTM_ENST00000425719.2_Missense_Mutation_p.V215G|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_Missense_Mutation_p.V215G|NTM_ENST00000427481.2_Missense_Mutation_p.V206G|NTM_ENST00000539799.1_Missense_Mutation_p.V215G	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	215	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V215G(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTACGGAGAGTAAAGGTCACC	0.587																																						uc001qgp.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(643-645)GTA>GGA		neurotrimin isoform 1							80.0	70.0	74.0					11																	132177700		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177700T>G	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.644T>G	11.37:g.132177700T>G	ENSP00000363918:p.Val215Gly					NTM_uc001qgm.2_Missense_Mutation_p.V215G|NTM_uc010sch.1_Missense_Mutation_p.V206G|NTM_uc010sci.1_Missense_Mutation_p.V215G|NTM_uc010scj.1_Missense_Mutation_p.V174G|NTM_uc001qgo.2_Missense_Mutation_p.V215G|NTM_uc001qgq.2_Missense_Mutation_p.V215G|NTM_uc001qgr.2_5'UTR	p.V215G	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			4	1308	+			215			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.644T>G	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523286	0.64747	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	5.78	5.78	0.91487	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.83830	0.5339	M	0.85777	2.775	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.998;0.999	D	0.86463	0.1780	10	0.87932	D	0	-16.6294	16.4053	0.83662	0.0:0.0:0.0:1.0	.	215;206;215;215;215;215	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	G	215;215;206;215;215;215	ENSP00000363923:V215G;ENSP00000437668:V215G;ENSP00000416320:V206G;ENSP00000363918:V215G;ENSP00000396722:V215G;ENSP00000363916:V215G	ENSP00000363916:V215G	V	+	2	0	NTM	131682910	1.000000	0.71417	0.944000	0.38274	0.186000	0.23388	7.655000	0.83696	2.333000	0.79357	0.482000	0.46254	GTA		PASS	0.587	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		4	27	4	27	---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5687599	5687599	+	Silent	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:5687599C>T	ENST00000356134.5	-	23	2393	c.2322G>A	c.(2320-2322)gtG>gtA	p.V774V	ANO2_ENST00000327087.8_Silent_p.V773V|ANO2_ENST00000546188.1_Silent_p.V774V	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	778					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.V773V(1)|p.V774V(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CATCGAGCCGCACTTCAATGA	0.547																																						uc001qnm.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(2317-2319)GTG>GTA		anoctamin 2							75.0	79.0	78.0					12																	5687599		2020	4174	6194	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5687599C>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2322G>A	12.37:g.5687599C>T							p.V773V	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			22	2391	-			778			Cytoplasmic (Potential).		C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.2319G>A																																																																																					PASS	0.547	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		6	41	6	41	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26781091	26781091	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:26781091A>G	ENST00000381340.3	-	23	3355	c.2939T>C	c.(2938-2940)aTc>aCc	p.I980T	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	980					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.I980T(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GACACTCAGGATAAACTATAA	0.353																																						uc001rhg.2																			1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(2938-2940)ATC>ACC		inositol 1,4,5-triphosphate receptor, type 2							135.0	129.0	131.0					12																	26781091		1843	4093	5936	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26781091A>G	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2939T>C	12.37:g.26781091A>G	ENSP00000370744:p.Ile980Thr						p.I980T	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			23	3356	-	Colorectal(261;0.0847)		980			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2939T>C	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903661	0.72754	.	.	ENSG00000123104	ENST00000381340	T	0.60797	0.16	4.88	4.88	0.63580	.	0.103621	0.64402	D	0.000002	T	0.78142	0.4237	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.82902	-0.0227	10	0.87932	D	0	.	14.6697	0.68934	1.0:0.0:0.0:0.0	.	980	Q14571	ITPR2_HUMAN	T	980	ENSP00000370744:I980T	ENSP00000370744:I980T	I	-	2	0	ITPR2	26672358	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.203000	0.89739	2.047000	0.60756	0.528000	0.53228	ATC		PASS	0.353	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		34	117	34	117	---	---	---	---
OSBPL8	114882	broad.mit.edu	37	12	76772316	76772316	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:76772316C>A	ENST00000261183.3	-	16	2124	c.1645G>T	c.(1645-1647)Gca>Tca	p.A549S	OSBPL8_ENST00000393250.4_Missense_Mutation_p.A507S|OSBPL8_ENST00000393249.2_Missense_Mutation_p.A507S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	549					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.A549S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TCTAATATTGCAGATAATGAG	0.289																																						uc001sye.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1645-1647)GCA>TCA		oxysterol-binding protein-like protein 8 isoform							137.0	142.0	140.0					12																	76772316		2203	4297	6500	SO:0001583	missense	114882				lipid transport		lipid binding	g.chr12:76772316C>A	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1645G>T	12.37:g.76772316C>A	ENSP00000261183:p.Ala549Ser					OSBPL8_uc001syf.1_Missense_Mutation_p.A507S|OSBPL8_uc001syg.1_Missense_Mutation_p.A507S|OSBPL8_uc001syh.1_Missense_Mutation_p.A524S	p.A549S	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			16	2125	-			549					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Missense_Mutation	SNP	ENST00000261183.3	37	c.1645G>T	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500604	0.96371	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	L	0.42686	1.345	0.80722	D	1	D;P	0.54397	0.966;0.488	P;B	0.60286	0.872;0.394	T	0.18999	-1.0319	10	0.45353	T	0.12	-17.1168	19.9576	0.97228	0.0:1.0:0.0:0.0	.	524;549	F8VUA7;Q9BZF1	.;OSBL8_HUMAN	S	507;549;534;507;549;549;524	ENSP00000376939:A507S;ENSP00000261183:A549S;ENSP00000376940:A507S;ENSP00000450238:A549S;ENSP00000447893:A524S	ENSP00000261183:A549S	A	-	1	0	OSBPL8	75296447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.693000	0.84214	2.736000	0.93811	0.655000	0.94253	GCA		PASS	0.289	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		22	74	22	74	---	---	---	---
LIN7A	8825	broad.mit.edu	37	12	81205404	81205404	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:81205404C>A	ENST00000552864.1	-	5	744	c.542G>T	c.(541-543)aGc>aTc	p.S181I		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	181	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)	p.S181I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CAGCTTGACGCTGTCTTTAGC	0.488																																						uc001szj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(541-543)AGC>ATC		lin-7 homolog A							132.0	114.0	120.0					12																	81205404		2203	4300	6503	SO:0001583	missense	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81205404C>A	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.542G>T	12.37:g.81205404C>A	ENSP00000447488:p.Ser181Ile					LIN7A_uc001szk.1_RNA	p.S181I	NM_004664	NP_004655	O14910	LIN7A_HUMAN			5	735	-			181			PDZ.		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	ENST00000552864.1	37	c.542G>T	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948490	0.53186	.	.	ENSG00000111052	ENST00000552864	T	0.28069	1.63	5.13	4.23	0.50019	PDZ/DHR/GLGF (4);	0.117788	0.85682	D	0.000000	T	0.30854	0.0778	N	0.13371	0.34	0.80722	D	1	P	0.48407	0.91	P	0.52066	0.689	T	0.24977	-1.0145	10	0.87932	D	0	-5.715	15.612	0.76733	0.0:0.8619:0.1381:0.0	.	181	O14910	LIN7A_HUMAN	I	181	ENSP00000447488:S181I	ENSP00000447488:S181I	S	-	2	0	LIN7A	79729535	0.940000	0.31905	0.921000	0.36526	0.988000	0.76386	1.770000	0.38532	1.155000	0.42497	0.591000	0.81541	AGC		PASS	0.488	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			22	75	22	75	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104014304	104014304	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:104014304G>T	ENST00000388887.2	+	4	594	c.390G>T	c.(388-390)atG>atT	p.M130I		NM_017564.9	NP_060034.9			stabilin 2									p.M130I(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGAAGGCATGGAAGGAAATG	0.493																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(388-390)ATG>ATT		stabilin 2 precursor							122.0	98.0	106.0					12																	104014304		2202	4296	6498	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104014304G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.390G>T	12.37:g.104014304G>T	ENSP00000373539:p.Met130Ile						p.M130I	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			4	576	+			130			Extracellular (Potential).|EGF-like 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.390G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	3.167	-0.170871	0.06421	.	.	ENSG00000136011	ENST00000388887	T	0.80994	-1.44	4.98	0.707	0.18139	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.418578	0.26499	N	0.024025	T	0.47875	0.1469	N	0.04297	-0.235	0.29663	N	0.843035	B	0.06786	0.001	B	0.06405	0.002	T	0.42015	-0.9476	10	0.02654	T	1	.	2.3907	0.04377	0.0976:0.1635:0.4034:0.3354	.	130	Q8WWQ8	STAB2_HUMAN	I	130	ENSP00000373539:M130I	ENSP00000373539:M130I	M	+	3	0	STAB2	102538434	0.985000	0.35326	0.998000	0.56505	0.998000	0.95712	-0.067000	0.11579	0.576000	0.29452	0.549000	0.68633	ATG		PASS	0.493	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			4	16	4	16	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104056674	104056674	+	Silent	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:104056674C>G	ENST00000388887.2	+	18	2124	c.1920C>G	c.(1918-1920)gcC>gcG	p.A640A		NM_017564.9	NP_060034.9			stabilin 2									p.A640A(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGATCACTGCCAAAAATGGCC	0.428																																						uc001tjw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(5)	14						c.(1918-1920)GCC>GCG		stabilin 2 precursor							142.0	135.0	138.0					12																	104056674		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104056674C>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1920C>G	12.37:g.104056674C>G							p.A640A	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			18	2106	+			640			Extracellular (Potential).|FAS1 2.			Silent	SNP	ENST00000388887.2	37	c.1920C>G	CCDS31888.1																																																																																				PASS	0.428	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			19	80	19	80	---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109937553	109937553	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:109937553G>C	ENST00000342494.3	+	12	1651	c.1056G>C	c.(1054-1056)aaG>aaC	p.K352N	UBE3B_ENST00000434735.2_Missense_Mutation_p.K352N|UBE3B_ENST00000280774.5_Missense_Mutation_p.K352N	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	352					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.K352N(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGTCTCAGAAGAAGTCCAACC	0.537																																						uc001top.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(1054-1056)AAG>AAC		ubiquitin protein ligase E3B							154.0	120.0	132.0					12																	109937553		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109937553G>C	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1056G>C	12.37:g.109937553G>C	ENSP00000340596:p.Lys352Asn					UBE3B_uc001toq.2_Missense_Mutation_p.K352N|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.K352N	p.K352N	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			12	1659	+			352					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.1056G>C	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435299	0.83885	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.52295	1.05;0.67;1.3;1.05	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.69305	0.3096	M	0.77103	2.36	0.80722	D	1	D	0.67145	0.996	D	0.63877	0.919	T	0.72074	-0.4400	10	0.66056	D	0.02	-24.8596	18.6651	0.91486	0.0:0.0:1.0:0.0	.	352	Q7Z3V4	UBE3B_HUMAN	N	352	ENSP00000391529:K352N;ENSP00000280774:K352N;ENSP00000443131:K352N;ENSP00000340596:K352N	ENSP00000280774:K352N	K	+	3	2	UBE3B	108421936	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.698000	0.84413	2.666000	0.90696	0.585000	0.79938	AAG		PASS	0.537	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		8	53	8	53	---	---	---	---
IFT81	28981	broad.mit.edu	37	12	110565186	110565186	+	Start_Codon_SNP	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:110565186A>G	ENST00000242591.5	+	2	507	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	IFT81_ENST00000552912.1_Start_Codon_SNP_p.M1V|IFT81_ENST00000361948.4_Start_Codon_SNP_p.M1V	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	1					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)	p.M1V(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGACCTAATTATGAGTGATCA	0.303																																						uc001tqi.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1-3)ATG>GTG		intraflagellar transport 81-like isoform 1							22.0	22.0	22.0					12																	110565186		2199	4294	6493	SO:0001582	initiator_codon_variant	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110565186A>G	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1A>G	12.37:g.110565186A>G	ENSP00000242591:p.Met1Val					IFT81_uc001tqh.2_Missense_Mutation_p.M1V|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.M1V	p.M1V	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			2	131	+			1					Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1A>G	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125572	0.77436	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T	0.39406	1.08	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	.	.	.	0.80722	D	1	D;P	0.71674	0.998;0.917	D;D	0.71656	0.974;0.915	T	0.70107	-0.4963	9	0.87932	D	0	-20.1544	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1;1	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	V	1	ENSP00000355372:M1V	ENSP00000242591:M1V	M	+	1	0	IFT81	109049569	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.893000	0.92498	2.371000	0.80710	0.533000	0.62120	ATG		PASS	0.303	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055	Missense_Mutation	2	11	2	11	---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117672551	117672551	+	Silent	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:117672551G>A	ENST00000338101.4	-	21	3160	c.3156C>T	c.(3154-3156)atC>atT	p.I1052I	NOS1_ENST00000317775.6_Silent_p.I1018I|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.I1018I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GACGCACGAAGATAGTTGACC	0.562																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(3052-3054)ATC>ATT		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						34.0	37.0	36.0					12																	117672551		2035	4198	6233	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117672551G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3156C>T	12.37:g.117672551G>A							p.I1018I	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	21	3740	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1018			FAD-binding FR-type.			Silent	SNP	ENST00000338101.4	37	c.3054C>T	CCDS55890.1																																																																																				PASS	0.562	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			6	45	6	45	---	---	---	---
CAMKK2	10645	broad.mit.edu	37	12	121690485	121690485	+	Silent	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:121690485T>A	ENST00000324774.5	-	11	1968	c.1140A>T	c.(1138-1140)ctA>ctT	p.L380L	CAMKK2_ENST00000392474.2_Silent_p.L380L|CAMKK2_ENST00000535524.1_5'Flank|CAMKK2_ENST00000392473.2_Silent_p.L380L|CAMKK2_ENST00000545538.1_Silent_p.L167L|CAMKK2_ENST00000538733.1_Silent_p.L380L|CAMKK2_ENST00000412367.2_Silent_p.L380L|CAMKK2_ENST00000446440.2_Silent_p.L380L|CAMKK2_ENST00000337174.3_Silent_p.L380L|CAMKK2_ENST00000404169.3_Silent_p.L380L|CAMKK2_ENST00000347034.2_Silent_p.L380L|CAMKK2_ENST00000402834.4_Silent_p.L380L	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	380	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)	p.L380L(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAAGCAGTATAGTGTCACAC	0.547																																						uc001tzu.2																			2	Substitution - coding silent(2)		lung(2)	lung(1)|large_intestine(1)|stomach(1)	3						c.(1138-1140)CTA>CTT		calcium/calmodulin-dependent protein kinase							106.0	86.0	93.0					12																	121690485		2203	4300	6503	SO:0001819	synonymous_variant	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121690485T>A	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1140A>T	12.37:g.121690485T>A						CAMKK2_uc001tzt.2_Silent_p.L380L|CAMKK2_uc001tzv.2_Silent_p.L380L|CAMKK2_uc001tzw.2_Silent_p.L380L|CAMKK2_uc001tzx.2_Silent_p.L380L|CAMKK2_uc001tzy.2_Silent_p.L380L|CAMKK2_uc001tzz.1_Silent_p.L167L|CAMKK2_uc001uaa.1_Silent_p.L380L|CAMKK2_uc001uab.2_Silent_p.L380L|CAMKK2_uc001uac.2_Silent_p.L380L	p.L380L	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN			11	1264	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		380			Protein kinase.		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Silent	SNP	ENST00000324774.5	37	c.1140A>T	CCDS9216.1																																																																																				PASS	0.547	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		7	41	7	41	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129558726	129558726	+	Silent	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:129558726C>T	ENST00000422113.2	-	9	3320	c.2994G>A	c.(2992-2994)gaG>gaA	p.E998E	TMEM132D_ENST00000389441.4_Silent_p.E536E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	998					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.E998E(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ATTTACTTTCCTCGAAATCCA	0.453																																						uc009zyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2992-2994)GAG>GAA		transmembrane protein 132D precursor							109.0	101.0	103.0					12																	129558726		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129558726C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2994G>A	12.37:g.129558726C>T						TMEM132D_uc001uia.2_Silent_p.E536E	p.E998E	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3322	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	998			Cytoplasmic (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.2994G>A	CCDS9266.1																																																																																				PASS	0.453	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		27	121	27	121	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132502198	132502198	+	Missense_Mutation	SNP	G	G	C	rs572102484		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:132502198G>C	ENST00000333577.4	+	21	4259	c.4150G>C	c.(4150-4152)Gtg>Ctg	p.V1384L	EP400_ENST00000389561.2_Missense_Mutation_p.V1348L|EP400_ENST00000389562.2_Missense_Mutation_p.V1347L|EP400_ENST00000332482.4_Missense_Mutation_p.V1311L|EP400_ENST00000330386.6_Missense_Mutation_p.V1348L			Q96L91	EP400_HUMAN	E1A binding protein p400	1384					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.V1347L(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCTTCCTACGTGGCGGGGCC	0.592																																						uc001ujn.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(4042-4044)GTG>CTG		E1A binding protein p400							40.0	38.0	38.0					12																	132502198		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502198G>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4150G>C	12.37:g.132502198G>C	ENSP00000333602:p.Val1384Leu					EP400_uc001ujl.2_Missense_Mutation_p.V1347L|EP400_uc001ujm.2_Missense_Mutation_p.V1348L	p.V1348L	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	19	4077	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1384					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.4042G>C		.	.	.	.	.	.	.	.	.	.	G	5.812	0.334105	0.11013	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90004	-2.59;-2.59;-2.59;-2.59;-2.6	5.79	1.69	0.24217	.	0.510734	0.22008	N	0.065901	T	0.79633	0.4479	L	0.40543	1.245	0.09310	N	1	B;B;B	0.23735	0.09;0.09;0.09	B;B;B	0.19391	0.025;0.025;0.025	T	0.59936	-0.7360	10	0.09590	T	0.72	.	7.5714	0.27909	0.1664:0.0:0.698:0.1356	.	1348;1348;1347	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	L	1384;1348;1347;1311;1348;1348;1348	ENSP00000333602:V1384L;ENSP00000374212:V1348L;ENSP00000374213:V1347L;ENSP00000331737:V1311L;ENSP00000330620:V1348L	ENSP00000330620:V1348L	V	+	1	0	EP400	131068151	0.901000	0.30685	0.000000	0.03702	0.025000	0.11179	1.716000	0.37981	0.019000	0.15079	0.655000	0.94253	GTG		PASS	0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		19	88	19	88	---	---	---	---
P2RX2	22953	broad.mit.edu	37	12	133197898	133197898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr12:133197898C>A	ENST00000389110.3	+	9	1000	c.963C>A	c.(961-963)taC>taA	p.Y321*	P2RX2_ENST00000449132.2_Nonsense_Mutation_p.Y287*|P2RX2_ENST00000350048.5_Nonsense_Mutation_p.Y297*|P2RX2_ENST00000343948.4_Nonsense_Mutation_p.Y321*|P2RX2_ENST00000352418.4_Nonsense_Mutation_p.Y249*|P2RX2_ENST00000351222.4_Nonsense_Mutation_p.Y229*|P2RX2_ENST00000348800.5_Nonsense_Mutation_p.Y321*	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	321	Pore-forming motif. {ECO:0000255}.				behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.Y321*(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCAAGGCCTACGGGATCCGCA	0.612																																						uc001ukj.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(961-963)TAC>TAA		purinergic receptor P2X2 isoform A							175.0	156.0	163.0					12																	133197898		2203	4300	6503	SO:0001587	stop_gained	22953				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133197898C>A	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.963C>A	12.37:g.133197898C>A	ENSP00000373762:p.Tyr321*					P2RX2_uc001uki.1_Nonsense_Mutation_p.Y321*|P2RX2_uc001ukk.1_Nonsense_Mutation_p.Y321*|P2RX2_uc001ukl.1_Nonsense_Mutation_p.Y297*|P2RX2_uc001ukm.1_Nonsense_Mutation_p.Y249*|P2RX2_uc001ukn.1_Nonsense_Mutation_p.Y229*|P2RX2_uc009zyt.1_Nonsense_Mutation_p.Y321*|P2RX2_uc001uko.1_Nonsense_Mutation_p.Y287*	p.Y321*	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	9	963	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	321			Pore-forming motif (Potential).|Extracellular (Potential).		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Nonsense_Mutation	SNP	ENST00000389110.3	37	c.963C>A	CCDS31931.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469543	0.43839	.	.	ENSG00000187848	ENST00000389110;ENST00000449132;ENST00000343948;ENST00000352418;ENST00000350048;ENST00000351222;ENST00000348800	.	.	.	4.96	-6.12	0.02124	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5346	15.6943	0.77481	0.0:0.5608:0.0:0.4392	.	.	.	.	X	321;287;321;249;297;229;321	.	ENSP00000343339:Y321X	Y	+	3	2	P2RX2	131707971	0.001000	0.12720	0.897000	0.35233	0.459000	0.32528	-1.526000	0.02229	-0.986000	0.03498	-0.367000	0.07326	TAC		PASS	0.612	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			28	252	28	252	---	---	---	---
RCBTB1	55213	broad.mit.edu	37	13	50115118	50115118	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr13:50115118T>A	ENST00000378302.2	-	12	1609	c.1349A>T	c.(1348-1350)tAc>tTc	p.Y450F	RCBTB1_ENST00000258646.3_Missense_Mutation_p.Y450F|RCBTB1_ENST00000471984.1_5'Flank	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	450					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y450F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GTTTTCACAGTAAGATGTCGC	0.343																																						uc001vde.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1348-1350)TAC>TTC		regulator of chromosome condensation (RCC1) and							82.0	76.0	78.0					13																	50115118		2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50115118T>A	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.1349A>T	13.37:g.50115118T>A	ENSP00000367552:p.Tyr450Phe						p.Y450F	NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	12	1610	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	450					Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.1349A>T	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.964717	0.92791	.	.	ENSG00000136144	ENST00000258646;ENST00000378302	T;T	0.67698	-0.28;-0.28	5.85	5.85	0.93711	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.81730	0.4884	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.83927	0.0304	10	0.87932	D	0	-18.3698	16.2421	0.82418	0.0:0.0:0.0:1.0	.	450	Q8NDN9	RCBT1_HUMAN	F	450	ENSP00000258646:Y450F;ENSP00000367552:Y450F	ENSP00000258646:Y450F	Y	-	2	0	RCBTB1	49013119	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.234000	0.73211	0.533000	0.62120	TAC		PASS	0.343	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		11	35	11	35	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99554117	99554117	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr13:99554117A>T	ENST00000376460.1	-	13	1498	c.1418T>A	c.(1417-1419)tTt>tAt	p.F473Y	DOCK9_ENST00000442173.1_Missense_Mutation_p.F473Y|DOCK9_ENST00000448493.2_Missense_Mutation_p.F485Y|DOCK9_ENST00000339416.2_Missense_Mutation_p.F474Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	474					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F485Y(1)|p.F473Y(1)|p.F474Y(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGCCACAAGAAATATATCTGG	0.393																																						uc001vnt.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(1420-1422)TTT>TAT		dedicator of cytokinesis 9 isoform a							59.0	55.0	56.0					13																	99554117		1847	4096	5943	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99554117A>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1418T>A	13.37:g.99554117A>T	ENSP00000365643:p.Phe473Tyr					DOCK9_uc001vnw.2_Missense_Mutation_p.F473Y|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.F474Y|DOCK9_uc010tis.1_Missense_Mutation_p.F473Y|DOCK9_uc010tit.1_Missense_Mutation_p.F474Y|DOCK9_uc010afu.1_Missense_Mutation_p.F289Y	p.F474Y	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			13	1476	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		474					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.1421T>A	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.974164	0.74246	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.37679	0.1012	L	0.41492	1.28	0.58432	D	0.999999	B;P;B;B;B	0.39391	0.191;0.671;0.09;0.075;0.303	B;B;B;B;B	0.39531	0.084;0.302;0.084;0.075;0.134	T	0.12656	-1.0539	9	.	.	.	.	15.8087	0.78538	1.0:0.0:0.0:0.0	.	474;473;473;473;474	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	Y	473;474;474;474;473;474;485;473	ENSP00000365643:F473Y;ENSP00000341086:F474Y;ENSP00000401958:F485Y;ENSP00000406883:F473Y	.	F	-	2	0	DOCK9	98352118	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.867000	0.92314	2.191000	0.70037	0.528000	0.53228	TTT		PASS	0.393	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		3	15	3	15	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20216180	20216180	+	Silent	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:20216180G>T	ENST00000331723.1	+	1	594	c.594G>T	c.(592-594)gtG>gtT	p.V198V		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V198V(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTAGAGGTGCTGGTGATAG	0.498																																						uc010tkt.1																			1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(592-594)GTG>GTT		olfactory receptor, family 4, subfamily Q,							208.0	163.0	178.0					14																	20216180		2203	4300	6503	SO:0001819	synonymous_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216180G>T	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.594G>T	14.37:g.20216180G>T							p.V198V	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	594	+	all_cancers(95;0.00108)		198			Helical; Name=5; (Potential).		Q6IEX4	Silent	SNP	ENST00000331723.1	37	c.594G>T	CCDS32020.1																																																																																				PASS	0.498	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			10	70	10	70	---	---	---	---
OR11G2	390439	broad.mit.edu	37	14	20665802	20665802	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:20665802A>T	ENST00000357366.3	+	1	308	c.308A>T	c.(307-309)aAc>aTc	p.N103I		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N103I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGCTCGCCAACTTCTCCTTC	0.527																																						uc010tlb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(307-309)AAC>ATC		olfactory receptor, family 11, subfamily G,							113.0	92.0	99.0					14																	20665802		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20665802A>T		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.308A>T	14.37:g.20665802A>T	ENSP00000349930:p.Asn103Ile						p.N103I	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	308	+	all_cancers(95;0.00108)		103			Helical; Name=2; (Potential).		Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.308A>T	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	a	15.75	2.924214	0.52653	.	.	ENSG00000196832	ENST00000357366	T	0.13089	2.62	4.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.139382	0.32147	U	0.006510	T	0.36991	0.0987	M	0.83384	2.64	0.25036	N	0.991235	D	0.89917	1.0	D	0.79108	0.992	T	0.21724	-1.0237	10	0.62326	D	0.03	.	9.5436	0.39266	0.8229:0.1771:0.0:0.0	.	103	Q8NGC1	O11G2_HUMAN	I	103	ENSP00000349930:N103I	ENSP00000349930:N103I	N	+	2	0	OR11G2	19735642	0.888000	0.30383	1.000000	0.80357	0.998000	0.95712	2.078000	0.41567	1.955000	0.56771	0.528000	0.53228	AAC		PASS	0.527	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			22	103	22	103	---	---	---	---
TRAV13-1	28671	broad.mit.edu	37	14	22337320	22337320	+	RNA	SNP	C	C	T	rs201830464		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:22337320C>T	ENST00000390436.2	+	0	134									T cell receptor alpha variable 13-1																		AGGGAGACAGCGCTGTTATCA	0.433																																						uc010tmf.1																			0											c.(112-114)AGC>AGT		SubName: Full=Putative uncharacterized protein ENSP00000374943;		C		0,3990		0,0,1995	120.0	119.0	119.0			2.7	0.0	14		119	1,8367		0,1,4183	no	intergenic				0,1,6178	TT,TC,CC		0.012,0.0,0.0081			22337320	1,12357	1995	4184	6179			0							g.chr14:22337320C>T	AE000659		14q11.2	2012-02-07			ENSG00000211788	ENSG00000211788		"""T cell receptors / TRA locus"""	12108	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168993		14.37:g.22337320C>T						uc001wbw.2_Intron|uc010tmg.1_Intron|uc010tmh.1_Silent_p.S37S|uc001wby.2_Intron	p.S38S							2	193	+									Silent	SNP	ENST00000390436.2	37	c.114C>T																																																																																					PASS	0.433	TRAV13-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401891.1	NG_001332		36	116	36	116	---	---	---	---
LRP10	26020	broad.mit.edu	37	14	23345950	23345950	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:23345950C>G	ENST00000359591.4	+	6	2168	c.1477C>G	c.(1477-1479)Ccc>Gcc	p.P493A	LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Missense_Mutation_p.P493A	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	493					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.P493A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCAGCAGGCACCCCCTTCCTA	0.552																																						uc001whd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1477-1479)CCC>GCC		low density lipoprotein receptor-related protein							98.0	88.0	91.0					14																	23345950		2203	4300	6503	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23345950C>G	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1477C>G	14.37:g.23345950C>G	ENSP00000352601:p.Pro493Ala					LRP10_uc001whe.2_Missense_Mutation_p.P369A	p.P493A	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	6	2030	+	all_cancers(95;4.69e-05)		493			Cytoplasmic (Potential).		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.1477C>G	CCDS9578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.770138|4.770138	0.90108|0.90108	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000359591;ENST00000546834|ENST00000551466	D;D|.	0.96200|.	-3.94;-3.75|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.047532|.	0.85682|.	D|.	0.000000|.	T|T	0.75019|0.75019	0.3793|0.3793	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.71761|0.71761	-0.4495|-0.4495	10|5	0.72032|.	D|.	0.01|.	-20.9788|-20.9788	19.0678|19.0678	0.93119|0.93119	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	493|.	Q7Z4F1|.	LRP10_HUMAN|.	A|S	493|394	ENSP00000352601:P493A;ENSP00000447559:P493A|.	ENSP00000352601:P493A|.	P|T	+|+	1|2	0|0	LRP10|LRP10	22415790|22415790	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.967000|0.967000	0.64934|0.64934	7.818000|7.818000	0.86416|0.86416	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	CCC|ACC		PASS	0.552	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			20	105	20	105	---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31852749	31852749	+	Missense_Mutation	SNP	C	C	T	rs375992166		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:31852749C>T	ENST00000389961.3	-	9	1555	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E	HEATR5A_ENST00000543095.2_Missense_Mutation_p.G525E|HEATR5A_ENST00000404677.3_Missense_Mutation_p.G525E|HEATR5A_ENST00000439348.1_Missense_Mutation_p.G519E|HEATR5A_ENST00000439727.1_Missense_Mutation_p.G232E			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	519								p.G519E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ATGAGGAATTCCTAAAGGACA	0.383																																						uc001wrf.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(694-696)GGA>GAA		HEAT repeat containing 5A							191.0	184.0	186.0					14																	31852749		1886	4123	6009	SO:0001583	missense	25938						binding	g.chr14:31852749C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1556G>A	14.37:g.31852749C>T	ENSP00000374611:p.Gly519Glu					HEATR5A_uc010ami.2_Missense_Mutation_p.G130E|HEATR5A_uc001wrg.1_Missense_Mutation_p.G114E|HEATR5A_uc010tpk.1_Missense_Mutation_p.G525E	p.G232E	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	4	772	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		519					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.695G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.046248|5.046248	0.93740|0.93740	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.08193	.|3.12;3.12;3.12;3.12;3.12	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Armadillo-type fold (1);	.|0.055896	.|0.64402	.|D	.|0.000001	T|T	0.37705|0.37705	0.1013|0.1013	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.25847|0.25847	-1.0120|-1.0120	5|10	.|0.87932	.|D	.|0	.|.	19.973|19.973	0.97292|0.97292	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|525;519;519	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	K|E	153|519;519;232;525;525	.|ENSP00000374611:G519E;ENSP00000405407:G519E;ENSP00000408681:G232E;ENSP00000437968:G525E;ENSP00000384646:G525E	.|ENSP00000374611:G519E	E|G	-|-	1|2	0|0	HEATR5A|HEATR5A	30922500|30922500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.700000|7.700000	0.84556|0.84556	2.725000|2.725000	0.93324|0.93324	0.460000|0.460000	0.39030|0.39030	GAA|GGA		PASS	0.383	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		28	180	28	180	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47342674	47342674	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:47342674C>G	ENST00000399232.2	-	14	2871	c.2507G>C	c.(2506-2508)tGt>tCt	p.C836S	MDGA2_ENST00000426342.1_Missense_Mutation_p.C607S|MDGA2_ENST00000399222.3_Missense_Mutation_p.C38S|MDGA2_ENST00000439988.3_Missense_Mutation_p.C905S|MDGA2_ENST00000357362.3_Missense_Mutation_p.C607S	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	836	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.C607S(2)|p.C905S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GAAGCTGAAACAATATGCAGT	0.383																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2506-2508)TGT>TCT		MAM domain containing 1 isoform 1							145.0	139.0	141.0					14																	47342674		1855	4097	5952	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47342674C>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2507G>C	14.37:g.47342674C>G	ENSP00000382178:p.Cys836Ser					MDGA2_uc001wwh.3_Missense_Mutation_p.C38S|MDGA2_uc001wwi.3_Missense_Mutation_p.C607S|MDGA2_uc010ani.2_Missense_Mutation_p.C396S	p.C836S	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			14	2703	-			836			MAM.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2507G>C		.	.	.	.	.	.	.	.	.	.	C	24.4	4.530213	0.85706	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	5.13	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.56097	U	0.000023	T	0.40372	0.1114	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.44050	-0.9353	10	0.87932	D	0	.	17.5134	0.87766	0.0:1.0:0.0:0.0	.	607;836	F6W3S7;Q7Z553	.;MDGA2_HUMAN	S	836;607;905;38;607	ENSP00000400011:C836S;ENSP00000405456:C607S;ENSP00000382178:C905S;ENSP00000382168:C38S;ENSP00000349925:C607S	ENSP00000349925:C607S	C	-	2	0	MDGA2	46412424	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.445000	0.80570	2.557000	0.86248	0.467000	0.42956	TGT		PASS	0.383	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		18	109	18	109	---	---	---	---
C14orf39	317761	broad.mit.edu	37	14	60921721	60921721	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:60921721G>T	ENST00000321731.3	-	16	1660	c.1501C>A	c.(1501-1503)Cag>Aag	p.Q501K		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	501					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)			p.Q501K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CATATTACCTGATCTGATGAG	0.313																																						uc001xez.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(1501-1503)CAG>AAG		hypothetical protein LOC317761							37.0	41.0	39.0					14																	60921721		2199	4284	6483	SO:0001583	missense	317761							g.chr14:60921721G>T	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1501C>A	14.37:g.60921721G>T	ENSP00000324920:p.Gln501Lys					C14orf39_uc010apo.2_Missense_Mutation_p.Q212K	p.Q501K	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	16	1611	-			501					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.1501C>A	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555186	0.27739	.	.	ENSG00000179008	ENST00000321731	T	0.25579	1.79	5.84	3.96	0.45880	.	0.313839	0.28371	N	0.015598	T	0.28797	0.0714	M	0.67953	2.075	0.29803	N	0.832254	B	0.28350	0.208	B	0.31686	0.134	T	0.26643	-1.0097	10	0.72032	D	0.01	-1.4214	9.6524	0.39906	0.0:0.2909:0.5586:0.1505	.	501	Q8N1H7	S6OS1_HUMAN	K	501	ENSP00000324920:Q501K	ENSP00000324920:Q501K	Q	-	1	0	C14orf39	59991474	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.101000	0.41787	0.761000	0.33130	0.561000	0.74099	CAG		PASS	0.313	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		10	55	10	55	---	---	---	---
SIX4	51804	broad.mit.edu	37	14	61187017	61187017	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:61187017C>G	ENST00000216513.4	-	2	1069	c.1010G>C	c.(1009-1011)gGa>gCa	p.G337A		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	337					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G337A(1)		breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CTTAGCATTTCCAATTTGTTG	0.408																																						uc001xfc.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1009-1011)GGA>GCA		sine oculis homeobox homolog 4							122.0	119.0	120.0					14																	61187017		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61187017C>G	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1010G>C	14.37:g.61187017C>G	ENSP00000216513:p.Gly337Ala					SIX4_uc010app.1_Missense_Mutation_p.G329A	p.G337A	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	2	1010	-			337					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.1010G>C	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962790	0.34659	.	.	ENSG00000100625	ENST00000216513;ENST00000554079;ENST00000556952	D;T	0.91521	-2.86;0.05	5.62	4.72	0.59763	.	0.469731	0.21621	N	0.071644	T	0.82001	0.4942	N	0.20986	0.625	0.58432	D	0.999998	P;B	0.41524	0.753;0.379	B;B	0.34093	0.175;0.048	T	0.81904	-0.0719	10	0.49607	T	0.09	.	11.6103	0.51055	0.0:0.8061:0.1254:0.0686	.	329;337	G3V2N2;Q9UIU6	.;SIX4_HUMAN	A	337;10;329	ENSP00000216513:G337A;ENSP00000451537:G10A	ENSP00000216513:G337A	G	-	2	0	SIX4	60256770	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.598000	0.61069	1.353000	0.45828	0.655000	0.94253	GGA		PASS	0.408	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			24	95	24	95	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65259873	65259873	+	Silent	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:65259873C>T	ENST00000389721.5	-	13	2540	c.2508G>A	c.(2506-2508)caG>caA	p.Q836Q	SPTB_ENST00000389720.3_Silent_p.Q836Q|SPTB_ENST00000556626.1_Silent_p.Q836Q|SPTB_ENST00000389722.3_Silent_p.Q836Q|SPTB_ENST00000542895.1_Silent_p.Q836Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	836					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.Q836Q(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCAGGTCCGCCTGGGCCACCA	0.632																																						uc001xht.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(2506-2508)CAG>CAA		spectrin beta isoform b							46.0	44.0	45.0					14																	65259873		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65259873C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2508G>A	14.37:g.65259873C>T						SPTB_uc001xhr.2_Silent_p.Q836Q|SPTB_uc001xhs.2_Silent_p.Q836Q|SPTB_uc001xhu.2_Silent_p.Q836Q	p.Q836Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2562	-		all_lung(585;4.15e-09)	836			Spectrin 6.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2508G>A	CCDS32100.1																																																																																				PASS	0.632	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			18	93	18	93	---	---	---	---
SAMD15	161394	broad.mit.edu	37	14	77844685	77844685	+	Silent	SNP	T	T	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:77844685T>G	ENST00000216471.4	+	1	1210	c.924T>G	c.(922-924)acT>acG	p.T308T	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	308								p.T308T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGAGCGGACTAAACCAGACT	0.473																																						uc001xtq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(922-924)ACT>ACG		hypothetical protein LOC161394							83.0	83.0	83.0					14																	77844685		2203	4300	6503	SO:0001819	synonymous_variant	161394							g.chr14:77844685T>G	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.924T>G	14.37:g.77844685T>G						TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	p.T308T	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	1	924	+			308					Q2M3P3	Silent	SNP	ENST00000216471.4	37	c.924T>G	CCDS32126.1																																																																																				PASS	0.473	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		9	115	9	115	---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	79175927	79175927	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:79175927T>C	ENST00000554719.1	+	4	961	c.470T>C	c.(469-471)gTg>gCg	p.V157A	NRXN3_ENST00000335750.5_Missense_Mutation_p.V157A|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	161	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.V157A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ACCATCAAAGTGAAAGCCACT	0.502																																						uc001xun.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(469-471)GTG>GCG		neurexin 3 isoform 1 precursor							132.0	136.0	134.0					14																	79175927		2203	4300	6503	SO:0001583	missense	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:79175927T>C	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.470T>C	14.37:g.79175927T>C	ENSP00000451648:p.Val157Ala					NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.V291A	p.V157A	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	961	+		Renal(4;0.00876)	530			Extracellular (Potential).|Laminin G-like 3.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.470T>C	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.108678	0.56291	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557081	T;T;T	0.80393	-1.36;-1.36;-1.37	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.068707	0.56097	D	0.000021	D	0.86772	0.6013	M	0.66560	2.04	0.52501	D	0.99995	D;B	0.59357	0.985;0.149	P;B	0.60286	0.872;0.059	D	0.86795	0.1988	9	.	.	.	.	15.3852	0.74691	0.0:0.0:0.0:1.0	.	530;157	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	A	530;528;157;157;101	ENSP00000451648:V157A;ENSP00000338349:V157A;ENSP00000450462:V101A	.	V	+	2	0	NRXN3	78245680	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.260000	0.72502	2.037000	0.60232	0.460000	0.39030	GTG		PASS	0.502	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		13	162	13	162	---	---	---	---
NRDE2	55051	broad.mit.edu	37	14	90756803	90756803	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:90756803T>C	ENST00000354366.3	-	10	2223	c.1991A>G	c.(1990-1992)aAc>aGc	p.N664S	NRDE2_ENST00000357904.3_Missense_Mutation_p.N433S	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	664								p.N664S(1)									AAAGATGCTGTTCTCATCCAT	0.493																																						uc001xyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1990-1992)AAC>AGC		hypothetical protein LOC55051 isoform 1							62.0	63.0	62.0					14																	90756803		2203	4300	6503	SO:0001583	missense	55051						protein binding	g.chr14:90756803T>C	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1991A>G	14.37:g.90756803T>C	ENSP00000346335:p.Asn664Ser					C14orf102_uc010atp.1_Missense_Mutation_p.N169S|C14orf102_uc001xyj.1_Missense_Mutation_p.N433S|C14orf102_uc001xyk.1_5'Flank	p.N664S	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	10	2022	-		all_cancers(154;0.118)	664					B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.1991A>G	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.367109	0.24771	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.33216	1.42;1.42	5.9	-0.415	0.12355	.	0.302452	0.37577	N	0.002022	T	0.17704	0.0425	L	0.41027	1.25	0.24971	N	0.991669	B	0.13594	0.008	B	0.08055	0.003	T	0.27872	-1.0061	10	0.12430	T	0.62	-25.1985	6.4068	0.21668	0.0:0.3603:0.1302:0.5095	.	664	Q9H7Z3	CN102_HUMAN	S	664;433	ENSP00000346335:N664S;ENSP00000350579:N433S	ENSP00000346335:N664S	N	-	2	0	C14orf102	89826556	0.155000	0.22806	0.967000	0.41034	0.630000	0.37929	0.134000	0.15932	-0.077000	0.12752	-0.256000	0.11100	AAC		PASS	0.493	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		5	76	5	76	---	---	---	---
SMEK1	55671	broad.mit.edu	37	14	91948452	91948452	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:91948452G>A	ENST00000554943.1	-	4	498	c.383C>T	c.(382-384)cCa>cTa	p.P128L	SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000337238.4_Missense_Mutation_p.P128L|SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000554684.1_Missense_Mutation_p.P128L			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	128					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.P128L(2)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTCTAAGCCTGGCGATGACAT	0.423																																						uc001xzn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(382-384)CCA>CTA		SMEK homolog 1, suppressor of mek1							93.0	89.0	90.0					14																	91948452		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91948452G>A	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.383C>T	14.37:g.91948452G>A	ENSP00000450883:p.Pro128Leu					SMEK1_uc001xzm.2_Missense_Mutation_p.P128L|SMEK1_uc001xzo.2_Missense_Mutation_p.P128L|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Missense_Mutation_p.P4L	p.P128L	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	4	1205	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	128					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.383C>T		.	.	.	.	.	.	.	.	.	.	G	15.90	2.969725	0.53614	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000554943;ENST00000554390;ENST00000557018	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	L	0.27053	0.805	0.80722	D	1	P;B;B	0.41848	0.763;0.138;0.05	B;B;B	0.39027	0.288;0.065;0.022	T	0.04593	-1.0940	10	0.34782	T	0.22	-12.5883	20.6593	0.99626	0.0:0.0:1.0:0.0	.	128;128;128	G3V5Z3;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	L	128	ENSP00000450864:P128L;ENSP00000337125:P128L;ENSP00000450883:P128L;ENSP00000452596:P128L;ENSP00000450432:P128L	ENSP00000337125:P128L	P	-	2	0	SMEK1	91018205	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	7.954000	0.87848	2.885000	0.99019	0.655000	0.94253	CCA		PASS	0.423	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		13	82	13	82	---	---	---	---
PPP4R4	57718	broad.mit.edu	37	14	94711944	94711944	+	Missense_Mutation	SNP	T	T	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:94711944T>G	ENST00000304338.3	+	13	1519	c.1365T>G	c.(1363-1365)gaT>gaG	p.D455E		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	455					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.D455E(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CTCTTATAGATCATCTTCCAG	0.308																																						uc001ycs.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(1363-1365)GAT>GAG		HEAT-like repeat-containing protein isoform 1							94.0	96.0	95.0					14																	94711944		2203	4299	6502	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94711944T>G	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1365T>G	14.37:g.94711944T>G	ENSP00000305924:p.Asp455Glu						p.D455E	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			13	1519	+			455					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.1365T>G	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383799	0.42308	.	.	ENSG00000119698	ENST00000304338	T	0.29655	1.56	5.86	-1.73	0.08081	Armadillo-like helical (1);Armadillo-type fold (1);	0.345391	0.36519	N	0.002558	T	0.13756	0.0333	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.10497	-1.0627	10	0.21540	T	0.41	-5.6695	3.9554	0.09387	0.235:0.2276:0.0:0.5373	.	455	Q6NUP7	PP4R4_HUMAN	E	455	ENSP00000305924:D455E	ENSP00000305924:D455E	D	+	3	2	PPP4R4	93781697	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	0.677000	0.25262	-0.172000	0.10779	0.528000	0.53228	GAT		PASS	0.308	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		10	54	10	54	---	---	---	---
PACS2	23241	broad.mit.edu	37	14	105857562	105857562	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:105857562G>T	ENST00000325438.8	+	20	2554	c.2050G>T	c.(2050-2052)Gtg>Ttg	p.V684L	PACS2_ENST00000447393.1_Missense_Mutation_p.V688L|PACS2_ENST00000458164.2_Missense_Mutation_p.V699L|PACS2_ENST00000551743.1_Missense_Mutation_p.V198L|PACS2_ENST00000547217.1_Missense_Mutation_p.V654L|PACS2_ENST00000551801.1_5'Flank|PACS2_ENST00000430725.2_Missense_Mutation_p.V609L			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	684					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)		p.V684L(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GGTTGGAATTGTGGAGCCATC	0.622																																						uc001yqt.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2050-2052)GTG>TTG		phosphofurin acidic cluster sorting protein 2							157.0	127.0	137.0					14																	105857562		2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105857562G>T	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2050G>T	14.37:g.105857562G>T	ENSP00000321834:p.Val684Leu					PACS2_uc001yqs.2_Missense_Mutation_p.V609L|PACS2_uc001yqv.2_Missense_Mutation_p.V688L|PACS2_uc001yqu.2_Missense_Mutation_p.V699L	p.V684L	NM_015197	NP_056012	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	20	2225	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	684					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.2050G>T	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184100	0.78677	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	4.35	4.35	0.52113	.	0.158960	0.40302	N	0.001125	T	0.39410	0.1077	L	0.41961	1.31	0.80722	D	1	B;B;B;B	0.25486	0.06;0.041;0.127;0.006	B;B;B;B	0.34590	0.181;0.073;0.186;0.022	T	0.18587	-1.0332	10	0.17832	T	0.49	-30.2426	15.4427	0.75200	0.0:0.0:1.0:0.0	.	688;699;684;685	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	L	609;684;699;688;654;198	ENSP00000393524:V609L;ENSP00000321834:V684L;ENSP00000399732:V699L;ENSP00000393559:V688L;ENSP00000449525:V654L;ENSP00000449254:V198L	ENSP00000321834:V684L	V	+	1	0	PACS2	104928607	1.000000	0.71417	0.933000	0.37362	0.989000	0.77384	9.016000	0.93645	1.967000	0.57214	0.561000	0.74099	GTG		PASS	0.622	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		11	39	11	39	---	---	---	---
IGHV4-31	28396	broad.mit.edu	37	14	106805353	106805353	+	RNA	SNP	C	C	G	rs564171700	byFrequency	TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr14:106805353C>G	ENST00000438142.2	-	0	281									immunoglobulin heavy variable 4-31																		AATAGATGTACCCAATCCACT	0.537																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.																																						8755							g.chr14:106805353C>G	L10098		14q32.33	2012-02-08			ENSG00000231475	ENSG00000231475		"""Immunoglobulins / IGH locus"""	5649	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152097		14.37:g.106805353C>G						uc001ysw.1_5'Flank								360		-									RNA	SNP	ENST00000438142.2	37	c.13855G>C																																																																																					PASS	0.537	IGHV4-31-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325194.1	NG_001019		20	132	20	132	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23811490	23811490	+	Silent	SNP	A	A	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:23811490A>C	ENST00000314520.3	+	1	1037	c.561A>C	c.(559-561)gcA>gcC	p.A187A	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	187					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.A187A(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAGACAATGCAGACCGTGGAG	0.612																																						uc001ywh.3																			1	Substitution - coding silent(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(559-561)GCA>GCC		makorin ring finger protein 3							35.0	40.0	38.0					15																	23811490		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811490A>C	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.561A>C	15.37:g.23811490A>C						MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.A187A	p.A187A	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1037	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	187						Silent	SNP	ENST00000314520.3	37	c.561A>C	CCDS10013.1																																																																																				PASS	0.612	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		4	46	4	46	---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25585232	25585232	+	Splice_Site	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:25585232C>T	ENST00000397954.2	-	10	2506	c.2507G>A	c.(2506-2508)aGg>aAg	p.R836K	UBE3A_ENST00000566215.1_Splice_Site_p.R813K|UBE3A_ENST00000438097.1_Splice_Site_p.R813K|UBE3A_ENST00000232165.3_Splice_Site_p.R833K|SNHG14_ENST00000554726.1_RNA|SNHG14_ENST00000452731.1_RNA|UBE3A_ENST00000428984.2_Splice_Site_p.R813K			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	836	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.R836K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AATTACCTACCTTTCTGTGTC	0.408																																						uc001zaq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(2506-2508)AGG>AAG		ubiquitin protein ligase E3A isoform 2							120.0	113.0	115.0					15																	25585232		2203	4300	6503	SO:0001630	splice_region_variant	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25585232C>T	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2507+1G>A	15.37:g.25585232C>T						uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.R813K|UBE3A_uc001zas.2_Missense_Mutation_p.R833K|UBE3A_uc001zat.2_Missense_Mutation_p.R813K	p.R836K	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	10	2507	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	836			HECT.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	c.2507G>A	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	32	5.129594	0.94473	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	4.57	4.57	0.56435	HECT (4);	0.000000	0.85682	D	0.000000	T	0.76033	0.3931	M	0.81239	2.535	0.80722	D	1	D;D	0.71674	0.969;0.998	B;D	0.65773	0.415;0.938	T	0.78952	-0.2001	9	.	.	.	.	17.5497	0.87872	0.0:1.0:0.0:0.0	.	833;836	Q05086-3;Q05086	.;UBE3A_HUMAN	K	833;833;836;813;813	ENSP00000232165:R833K;ENSP00000381045:R836K;ENSP00000411258:R813K;ENSP00000401265:R813K	.	R	-	2	0	UBE3A	23136325	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.818000	0.86416	2.326000	0.78906	0.591000	0.81541	AGG		PASS	0.408	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	Missense_Mutation	14	67	14	67	---	---	---	---
GABRA5	2558	broad.mit.edu	37	15	27128634	27128634	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:27128634G>C	ENST00000335625.5	+	6	1315	c.427G>C	c.(427-429)Gct>Cct	p.A143P	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.A143P|GABRA5_ENST00000355395.5_Missense_Mutation_p.A143P|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	143					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.A143P(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	GAAGTCCATCGCTCACAACAT	0.647																																						uc001zbd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(427-429)GCT>CCT		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						52.0	57.0	55.0					15																	27128634		2199	4299	6498	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27128634G>C		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.427G>C	15.37:g.27128634G>C	ENSP00000335592:p.Ala143Pro					GABRB3_uc001zbb.2_Intron	p.A143P	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	7	766	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	143			Extracellular (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.427G>C	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472824	0.96274	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89202	0.3558	10	0.56958	D	0.05	.	18.53	0.90987	0.0:0.0:1.0:0.0	.	143	P31644	GBRA5_HUMAN	P	143;143;111;143;143;143	ENSP00000335592:A143P;ENSP00000347557:A143P;ENSP00000450653:A111P;ENSP00000382953:A143P;ENSP00000450806:A143P;ENSP00000450717:A143P	ENSP00000335592:A143P	A	+	1	0	GABRA5	24679727	1.000000	0.71417	0.726000	0.30738	0.969000	0.65631	9.597000	0.98273	2.695000	0.91970	0.561000	0.74099	GCT		PASS	0.647	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			12	60	12	60	---	---	---	---
KNSTRN	90417	broad.mit.edu	37	15	40681810	40681810	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:40681810C>G	ENST00000249776.8	+	5	704	c.589C>G	c.(589-591)Cag>Gag	p.Q197E	KNSTRN_ENST00000608100.1_Missense_Mutation_p.Q119E|KNSTRN_ENST00000448395.2_Missense_Mutation_p.Q197E|KNSTRN_ENST00000416151.2_Missense_Mutation_p.Q197E	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein									p.Q197E(1)									GACTGAAACTCAGGTAAGAGA	0.502																																						uc001zll.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(589-591)CAG>GAG		TRAF4 associated factor 1 isoform a							63.0	64.0	64.0					15																	40681810		1897	4132	6029	SO:0001583	missense	90417					nucleus	protein binding	g.chr15:40681810C>G	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.589C>G	15.37:g.40681810C>G	ENSP00000249776:p.Gln197Glu					C15orf23_uc010ucp.1_Missense_Mutation_p.Q197E|C15orf23_uc001zlo.2_Missense_Mutation_p.Q197E|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA	p.Q197E	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)	5	704	+		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	197			Potential.			Missense_Mutation	SNP	ENST00000249776.8	37	c.589C>G	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097634	0.76870	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.27402	1.67;1.67;1.67	5.2	5.2	0.72013	.	0.071006	0.56097	D	0.000029	T	0.45236	0.1332	L	0.36672	1.1	0.39835	D	0.973029	D;D;D	0.67145	0.99;0.99;0.996	D;D;D	0.76071	0.979;0.979;0.987	T	0.42361	-0.9456	10	0.72032	D	0.01	-3.5254	14.1006	0.65051	0.0:1.0:0.0:0.0	.	197;197;197	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	E	197	ENSP00000249776:Q197E;ENSP00000391233:Q197E;ENSP00000393001:Q197E	ENSP00000249776:Q197E	Q	+	1	0	C15orf23	38469102	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.843000	0.55865	2.692000	0.91855	0.650000	0.86243	CAG		PASS	0.502	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		7	25	7	25	---	---	---	---
TGM5	9333	broad.mit.edu	37	15	43531095	43531095	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:43531095G>T	ENST00000220420.5	-	9	1272	c.1265C>A	c.(1264-1266)tCt>tAt	p.S422Y	TGM5_ENST00000349114.4_Missense_Mutation_p.S340Y	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	422					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.S422Y(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ATTGCCAACAGAACTCGTGTC	0.498																																						uc001zrd.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1264-1266)TCT>TAT		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						195.0	156.0	169.0					15																	43531095		2202	4299	6501	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43531095G>T	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1265C>A	15.37:g.43531095G>T	ENSP00000220420:p.Ser422Tyr					TGM5_uc001zrc.1_Missense_Mutation_p.S79Y|TGM5_uc001zre.1_Missense_Mutation_p.S340Y	p.S422Y	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	9	1273	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	422					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.1265C>A	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	3.899	-0.022458	0.07634	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.22743	1.94;1.94	5.55	3.67	0.42095	.	1.453140	0.03870	N	0.275518	T	0.19927	0.0479	L	0.28556	0.865	0.09310	N	1	B;B	0.23128	0.08;0.012	B;B	0.34652	0.187;0.011	T	0.38542	-0.9656	10	0.10377	T	0.69	-4.0754	8.1644	0.31217	0.25:0.0:0.75:0.0	.	340;422	O43548-2;O43548	.;TGM5_HUMAN	Y	422;340;421	ENSP00000220420:S422Y;ENSP00000220419:S340Y	ENSP00000220420:S422Y	S	-	2	0	TGM5	41318387	0.000000	0.05858	0.217000	0.23759	0.035000	0.12851	0.084000	0.14891	1.363000	0.46019	-0.253000	0.11424	TCT		PASS	0.498	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		11	49	11	49	---	---	---	---
HDC	3067	broad.mit.edu	37	15	50545843	50545844	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:50545843_50545844GG>TT	ENST00000267845.3	-	7	1142_1143	c.740_741CC>AA	c.(739-741)aCC>aAA	p.T247K	HDC_ENST00000543581.1_Missense_Mutation_p.T247K	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.T247N(1)|p.T247T(1)|p.T247K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AGACCCCAGTGGTCCCTAGTGT	0.485																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(739-741)ACC>ACA|c.(739-741)ACC>AAC		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)																																			SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50545843G>T|g.chr15:50545844G>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.740_741delinsTT	15.37:g.50545843_50545844delinsTT	ENSP00000267845:p.Thr247Lys					HDC_uc001zxy.2_5'Flank|HDC_uc010uff.1_Silent_p.T247T|HDC_uc010bet.1_Silent_p.T168T|HDC_uc001zxy.2_5'Flank|HDC_uc010uff.1_Missense_Mutation_p.T247N|HDC_uc010bet.1_Missense_Mutation_p.T168N	p.T247T|p.T247N	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	7	847|846	-		all_lung(180;0.0138)	247						Silent|Missense_Mutation	SNP	ENST00000267845.3	37	c.741C>A|c.740C>A	CCDS10134.1																																																																																				PASS	0.485	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			6	126|123	6	123	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59224609	59224609	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:59224609T>C	ENST00000380516.2	-	2	283	c.196A>G	c.(196-198)Att>Gtt	p.I66V	SLTM_ENST00000557950.1_5'UTR|SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	66					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I66V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTTAATTCAATATTATCTGGA	0.294																																						uc002afp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)ATT>GTT		modulator of estrogen induced transcription							154.0	157.0	156.0					15																	59224609		2191	4292	6483	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59224609T>C	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.196A>G	15.37:g.59224609T>C	ENSP00000369887:p.Ile66Val					SLTM_uc002afo.2_Missense_Mutation_p.I66V|SLTM_uc002afq.2_Translation_Start_Site|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.I66V	p.I66V	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			2	284	-			66					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.196A>G	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.180108	0.78564	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	T;T	0.15256	2.44;2.46	5.73	5.73	0.89815	DNA-binding SAP (1);	0.112312	0.39475	N	0.001342	T	0.19725	0.0474	L	0.50333	1.59	0.80722	D	1	B;B	0.28082	0.2;0.07	B;B	0.28385	0.089;0.062	T	0.01621	-1.1310	10	0.49607	T	0.09	.	15.0093	0.71539	0.0:0.0:0.0:1.0	.	66;66	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	V	66	ENSP00000369887:I66V;ENSP00000249736:I66V	ENSP00000249736:I66V	I	-	1	0	SLTM	57011901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.850000	0.69473	2.170000	0.68504	0.533000	0.62120	ATT		PASS	0.294	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		9	81	9	81	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65489148	65489148	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:65489148C>T	ENST00000261883.4	-	9	3642	c.3476G>A	c.(3475-3477)aGc>aAc	p.S1159N		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1159					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.S1159N(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCCACCCCTGCTCGCTCGCTG	0.607																																						uc002aon.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(2)|skin(1)	7						c.(3475-3477)AGC>AAC		cartilage intermediate layer protein							39.0	38.0	38.0					15																	65489148		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65489148C>T	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3476G>A	15.37:g.65489148C>T	ENSP00000261883:p.Ser1159Asn						p.S1159N	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	3657	-			1159					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.3476G>A	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359706	0.24598	.	.	ENSG00000138615	ENST00000261883	T	0.39592	1.07	5.44	5.44	0.79542	.	0.348365	0.30762	N	0.008939	T	0.34106	0.0886	L	0.40543	1.245	0.09310	N	1	B	0.23058	0.079	B	0.16722	0.016	T	0.22103	-1.0226	10	0.46703	T	0.11	-8.8642	11.6219	0.51124	0.0:0.9102:0.0:0.0898	.	1159	O75339	CILP1_HUMAN	N	1159	ENSP00000261883:S1159N	ENSP00000261883:S1159N	S	-	2	0	CILP	63276201	0.000000	0.05858	0.820000	0.32676	0.276000	0.26787	0.777000	0.26718	2.541000	0.85698	0.561000	0.74099	AGC		PASS	0.607	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		13	55	13	55	---	---	---	---
HCN4	10021	broad.mit.edu	37	15	73624626	73624626	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:73624626T>A	ENST00000261917.3	-	3	2210	c.1217A>T	c.(1216-1218)cAc>cTc	p.H406L	RP11-272D12.1_ENST00000558742.1_RNA|RP11-272D12.1_ENST00000557981.1_RNA	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	406					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.H406L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTAGGTCATGTGGAAGATCTG	0.627																																						uc002avp.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|liver(1)	6						c.(1216-1218)CAC>CTC		hyperpolarization activated cyclic							64.0	57.0	60.0					15																	73624626		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73624626T>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1217A>T	15.37:g.73624626T>A	ENSP00000261917:p.His406Leu						p.H406L	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	3	2211	-			406			Cytoplasmic (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1217A>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.847066	0.71603	.	.	ENSG00000138622	ENST00000261917	D	0.98437	-4.93	4.36	4.36	0.52297	Ion transport (1);	.	.	.	.	D	0.98346	0.9451	L	0.56280	1.765	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99204	1.0874	9	0.62326	D	0.03	.	13.8692	0.63608	0.0:0.0:0.0:1.0	.	406	Q9Y3Q4	HCN4_HUMAN	L	406	ENSP00000261917:H406L	ENSP00000261917:H406L	H	-	2	0	HCN4	71411679	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.903000	0.87398	1.725000	0.51514	0.459000	0.35465	CAC		PASS	0.627	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		7	58	7	58	---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74559107	74559107	+	Silent	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:74559107C>T	ENST00000398814.3	+	4	839	c.408C>T	c.(406-408)ccC>ccT	p.P136P	CCDC33_ENST00000321288.5_Silent_p.P339P	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	339								p.P339P(1)|p.P136P(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTTCCACCCCTACCACTTTG	0.532																																						uc002axo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)	5						c.(406-408)CCC>CCT		coiled-coil domain containing 33 isoform 1							117.0	116.0	117.0					15																	74559107		1961	4154	6115	SO:0001819	synonymous_variant	80125						protein binding	g.chr15:74559107C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.408C>T	15.37:g.74559107C>T						CCDC33_uc002axp.2_5'UTR	p.P136P	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN			4	802	+			339					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	ENST00000398814.3	37	c.408C>T	CCDS42058.1																																																																																				PASS	0.532	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		22	126	22	126	---	---	---	---
CRABP1	1381	broad.mit.edu	37	15	78640281	78640281	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:78640281G>A	ENST00000299529.6	+	4	481	c.376G>A	c.(376-378)Gat>Aat	p.D126N		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	126					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoic acid binding (GO:0001972)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.D126N(2)		breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Tretinoin(DB00755)	GTTTGGCGCCGATGACGTGGT	0.468																																					Ovarian(146;578 3231 38536)	uc002bdp.2																			2	Substitution - Missense(2)		lung(1)|skin(1)		0						c.(376-378)GAT>AAT		cellular retinoic acid binding protein 1	Alitretinoin(DB00523)|Etretinate(DB00926)						166.0	149.0	154.0					15																	78640281		2196	4293	6489	SO:0001583	missense	1381				multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity	g.chr15:78640281G>A		CCDS10301.1	15q24	2013-03-01	2001-11-28		ENSG00000166426	ENSG00000166426		"""Fatty acid binding protein family"""	2338	protein-coding gene	gene with protein product		180230	"""cellular retinoic acid-binding protein 1"""	RBP5		9154115	Standard	NM_004378		Approved	CRABP, CRABP-I, CRABPI	uc002bdp.2	P29762	OTTHUMG00000143862	ENST00000299529.6:c.376G>A	15.37:g.78640281G>A	ENSP00000299529:p.Asp126Asn						p.D126N	NM_004378	NP_004369	P29762	RABP1_HUMAN			4	481	+			126					Q6IAY7|Q8WTV5	Missense_Mutation	SNP	ENST00000299529.6	37	c.376G>A	CCDS10301.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956299	0.92726	.	.	ENSG00000166426	ENST00000299529;ENST00000406419	T	0.08896	3.04	5.14	5.14	0.70334	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.045090	0.85682	D	0.000000	T	0.15998	0.0385	L	0.35288	1.05	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	T	0.12837	-1.0532	10	0.10902	T	0.67	.	17.6328	0.88114	0.0:0.0:1.0:0.0	.	126	P29762	RABP1_HUMAN	N	126;65	ENSP00000299529:D126N	ENSP00000299529:D126N	D	+	1	0	CRABP1	76427336	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.705000	0.91357	2.392000	0.81423	0.563000	0.77884	GAT		PASS	0.468	CRABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290110.2	NM_004378		14	79	14	79	---	---	---	---
CHRNA5	1138	broad.mit.edu	37	15	78879022	78879022	+	Missense_Mutation	SNP	G	G	T	rs555893661		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:78879022G>T	ENST00000299565.5	+	3	494	c.294G>T	c.(292-294)tgG>tgT	p.W98C	CHRNA5_ENST00000559554.1_Missense_Mutation_p.W98C|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	98					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.W98C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	CAAACGTCTGGTTGAAACAGG	0.274																																						uc002bdy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(292-294)TGG>TGT		cholinergic receptor, nicotinic, alpha 5							145.0	160.0	155.0					15																	78879022		2196	4293	6489	SO:0001583	missense	1138				behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78879022G>T		CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.294G>T	15.37:g.78879022G>T	ENSP00000299565:p.Trp98Cys					CHRNA5_uc002bdz.2_Missense_Mutation_p.W98C	p.W98C	NM_000745	NP_000736	P30532	ACHA5_HUMAN			3	456	+			98			Extracellular (Potential).		Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	c.294G>T	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021773	0.75275	.	.	ENSG00000169684	ENST00000299565;ENST00000394802	T;D	0.85702	-1.45;-2.02	4.86	4.86	0.63082	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.95452	0.8523	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97305	0.9933	10	0.87932	D	0	.	16.9187	0.86158	0.0:0.0:1.0:0.0	.	98	P30532	ACHA5_HUMAN	C	98;49	ENSP00000299565:W98C;ENSP00000378281:W49C	ENSP00000299565:W98C	W	+	3	0	CHRNA5	76666077	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.758000	0.98927	2.403000	0.81681	0.561000	0.74099	TGG		PASS	0.274	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1			18	162	18	162	---	---	---	---
AEN	64782	broad.mit.edu	37	15	89172627	89172627	+	Silent	SNP	G	G	T	rs376452678		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr15:89172627G>T	ENST00000332810.3	+	3	862	c.711G>T	c.(709-711)ctG>ctT	p.L237L	AEN_ENST00000379231.3_Silent_p.L237L	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	237	Exonuclease.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)	p.L237L(1)		NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TAAAGGACCTGGCCCTGCAGC	0.652																																						uc002bmt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(709-711)CTG>CTT		interferon stimulated exonuclease gene							44.0	49.0	47.0					15																	89172627		2200	4299	6499	SO:0001819	synonymous_variant	64782				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	g.chr15:89172627G>T	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.711G>T	15.37:g.89172627G>T						AEN_uc010bnm.1_Silent_p.L237L	p.L237L	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN			3	862	+			237			Exonuclease.		C9J571|Q9BSA5|Q9H9X7	Silent	SNP	ENST00000332810.3	37	c.711G>T	CCDS10344.1																																																																																				PASS	0.652	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	NM_022767		8	109	8	109	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1250434	1250434	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr16:1250434G>A	ENST00000348261.5	+	7	1230	c.982G>A	c.(982-984)Gag>Aag	p.E328K	CACNA1H_ENST00000565831.1_Missense_Mutation_p.E328K|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E328K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	328					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.E328K(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCCGCAGGCCGAGGGGGTGGG	0.667																																						uc002cks.2																			4	Substitution - Missense(4)		lung(4)	breast(2)	2						c.(982-984)GAG>AAG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						26.0	30.0	29.0					16																	1250434		2069	4176	6245	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1250434G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.982G>A	16.37:g.1250434G>A	ENSP00000334198:p.Glu328Lys					CACNA1H_uc002ckt.2_Missense_Mutation_p.E328K	p.E328K	NM_021098	NP_066921	O95180	CAC1H_HUMAN			7	1230	+		Hepatocellular(780;0.00369)	328			Extracellular (Potential).|I.		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.982G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	0.804	-0.754379	0.03041	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96396	-4.0;-3.95	2.88	2.88	0.33553	Ion transport (1);	.	.	.	.	D	0.90293	0.6964	L	0.35644	1.08	0.09310	N	1	P;P	0.48407	0.642;0.91	B;B	0.37731	0.062;0.257	T	0.83344	-0.0006	9	0.07325	T	0.83	.	8.0196	0.30402	0.0:0.253:0.747:0.0	.	328;328	O95180-2;O95180	.;CAC1H_HUMAN	K	328	ENSP00000334198:E328K;ENSP00000351401:E328K	ENSP00000334198:E328K	E	+	1	0	CACNA1H	1190435	1.000000	0.71417	0.843000	0.33291	0.055000	0.15305	4.663000	0.61532	1.931000	0.55961	0.586000	0.80456	GAG		PASS	0.667	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		5	22	5	22	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20476943	20476943	+	Silent	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr16:20476943C>T	ENST00000573854.1	+	3	396	c.282C>T	c.(280-282)gcC>gcT	p.A94A	ACSM2A_ENST00000396104.2_Silent_p.A94A|ACSM2A_ENST00000417235.2_Silent_p.A15A|ACSM2A_ENST00000575690.1_Silent_p.A94A|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.A94A|ACSM2A_ENST00000424070.1_Silent_p.A94A	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	94					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.A94A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCAGGCAGCCAACGTCCTCT	0.602																																						uc010bwe.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)	3						c.(280-282)GCC>GCT		acyl-CoA synthetase medium-chain family member							132.0	116.0	121.0					16																	20476943		2203	4300	6503	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20476943C>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.282C>T	16.37:g.20476943C>T						ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Silent_p.A15A|ACSM2A_uc002dhf.3_Silent_p.A94A|ACSM2A_uc002dhg.3_Silent_p.A94A|ACSM2A_uc010vay.1_Silent_p.A15A	p.A94A	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			4	521	+			94					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.282C>T	CCDS32401.1																																																																																				PASS	0.602	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		9	62	9	62	---	---	---	---
EIF3C	8663	broad.mit.edu	37	16	28734633	28734633	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr16:28734633C>A	ENST00000331666.6	+	9	1111	c.925C>A	c.(925-927)Ccg>Acg	p.P309T	EIF3C_ENST00000564243.1_Missense_Mutation_p.P299T|EIF3C_ENST00000566501.1_Missense_Mutation_p.P309T|EIF3C_ENST00000566866.1_Missense_Mutation_p.P309T|EIF3C_ENST00000395587.1_Missense_Mutation_p.P309T					eukaryotic translation initiation factor 3, subunit C									p.P309T(2)		lung(5)|skin(1)	6						GGGCGGAGTGCCGTTGGTTAA	0.542																																						uc010byj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(928-930)CCG>ACG		eukaryotic translation initiation factor 3,							233.0	271.0	258.0					16																	28734633		2197	4297	6494	SO:0001583	missense	728689					eukaryotic translation initiation factor 3 complex	translation initiation factor activity	g.chr16:28734633C>A	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.925C>A	16.37:g.28734633C>A	ENSP00000332604:p.Pro309Thr					uc010vct.1_Intron|EIF3CL_uc010byi.2_Missense_Mutation_p.P309T|EIF3CL_uc002dqs.3_Missense_Mutation_p.P309T|EIF3C_uc002dqt.3_Missense_Mutation_p.P309T|EIF3CL_uc010vcy.1_Missense_Mutation_p.P299T|EIF3C_uc002dqu.3_Missense_Mutation_p.P309T|EIF3CL_uc002dqv.3_Missense_Mutation_p.P55T	p.P310T	NM_001099661	NP_001093131	B5ME19	B5ME19_HUMAN			10	1017	+			310						Missense_Mutation	SNP	ENST00000331666.6	37	c.928C>A	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	.	12.36	1.913929	0.33815	.	.	ENSG00000184110	ENST00000395587;ENST00000331666;ENST00000537985;ENST00000395583;ENST00000454461	.	.	.	3.95	3.0	0.34707	Eukaryotic translation initiation factor 3 subunit 8, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67543	0.2904	L	0.53249	1.67	0.50632	D	0.99988	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.975;0.999;0.998	T	0.67241	-0.5720	9	0.56958	D	0.05	.	9.1445	0.36923	0.0:0.8936:0.0:0.1064	.	299;95;309	B4E1D5;B3KNZ4;Q99613	.;.;EIF3C_HUMAN	T	309;309;294;157;131	.	ENSP00000332604:P309T	P	+	1	0	EIF3C	28642134	1.000000	0.71417	0.818000	0.32626	0.148000	0.21650	5.105000	0.64591	1.026000	0.39733	-0.409000	0.06214	CCG		PASS	0.542	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		53	471	53	471	---	---	---	---
CMIP	80790	broad.mit.edu	37	16	81733360	81733360	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr16:81733360G>A	ENST00000537098.3	+	15	1781	c.1709G>A	c.(1708-1710)gGt>gAt	p.G570D	CMIP_ENST00000398040.4_Missense_Mutation_p.G417D|CMIP_ENST00000539778.2_Missense_Mutation_p.G476D|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	570						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G570D(1)|p.G475D(1)		endometrium(5)|kidney(1)|lung(7)	13						AACAAGCTGGGTCCCTGCATG	0.602																																						uc002fgp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1708-1710)GGT>GAT		c-Maf-inducing protein isoform C-mip							55.0	54.0	54.0					16																	81733360		1985	4159	6144	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81733360G>A	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1709G>A	16.37:g.81733360G>A	ENSP00000446100:p.Gly570Asp					CMIP_uc002fgq.1_Missense_Mutation_p.G476D|CMIP_uc010vnq.1_Missense_Mutation_p.G383D|CMIP_uc002fgr.1_Missense_Mutation_p.G417D	p.G570D	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN			15	1781	+			536					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1709G>A	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951334	0.53186	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.09073	3.02;3.02	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.17152	0.0412	N	0.17082	0.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.17745	-1.0359	10	0.29301	T	0.29	.	19.8045	0.96525	0.0:0.0:1.0:0.0	.	417;476;570	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	D	570;476;476;383	ENSP00000446100:G570D;ENSP00000440401:G476D	ENSP00000381120:G476D	G	+	2	0	CMIP	80290861	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	9.827000	0.99397	2.676000	0.91093	0.655000	0.94253	GGT		PASS	0.602	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		3	17	3	17	---	---	---	---
OR1E1	8387	broad.mit.edu	37	17	3301392	3301392	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr17:3301392G>T	ENST00000322608.2	-	1	312	c.313C>A	c.(313-315)Ctg>Atg	p.L105M		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	105					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.L105M(1)		endometrium(3)|large_intestine(2)|lung(5)	10						CCAAATAACAGGAAGAAGTAC	0.542																																						uc002fvj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)CTG>ATG		olfactory receptor, family 1, subfamily E,							112.0	92.0	99.0					17																	3301392		2203	4300	6503	SO:0001583	missense	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3301392G>T	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.313C>A	17.37:g.3301392G>T	ENSP00000313384:p.Leu105Met						p.L105M	NM_003553	NP_003544	P30953	OR1E1_HUMAN			1	313	-			105			Helical; Name=3; (Potential).		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	ENST00000322608.2	37	c.313C>A	CCDS11024.1	.	.	.	.	.	.	.	.	.	.	G	1.083	-0.666385	0.03428	.	.	ENSG00000180016	ENST00000322608	T	0.01359	4.98	4.41	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.132488	0.34338	N	0.004045	T	0.01156	0.0038	L	0.31526	0.94	0.09310	N	1	B	0.23937	0.094	B	0.27608	0.081	T	0.48875	-0.8996	10	0.14656	T	0.56	.	5.187	0.15189	0.1914:0.2851:0.5235:0.0	.	105	P30953	OR1E1_HUMAN	M	105	ENSP00000313384:L105M	ENSP00000313384:L105M	L	-	1	2	OR1E1	3248142	0.000000	0.05858	0.966000	0.40874	0.058000	0.15608	-1.831000	0.01698	1.074000	0.40909	0.655000	0.94253	CTG		PASS	0.542	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		17	49	17	49	---	---	---	---
ZNF594	84622	broad.mit.edu	37	17	5086129	5086129	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr17:5086129G>C	ENST00000399604.4	-	1	1563	c.1423C>G	c.(1423-1425)Ctt>Gtt	p.L475V	ZNF594_ENST00000575779.1_Missense_Mutation_p.L475V			Q96JF6	ZN594_HUMAN	zinc finger protein 594	475					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.L475V(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTGTAACAAGGTGTGACCTC	0.473																																						uc010cla.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1423-1425)CTT>GTT		zinc finger protein 594							72.0	77.0	76.0					17																	5086129		2198	4299	6497	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086129G>C	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.1423C>G	17.37:g.5086129G>C	ENSP00000382513:p.Leu475Val						p.L475V	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	1579	-			475			C2H2-type 13.		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.1423C>G	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791346	0.31685	.	.	ENSG00000180626	ENST00000399604;ENST00000389222	T	0.52983	0.64	1.58	0.496	0.16896	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.60958	0.2309	M	0.72624	2.21	0.09310	N	1	D	0.53745	0.962	D	0.69307	0.963	T	0.49303	-0.8954	9	0.87932	D	0	.	5.717	0.17966	0.2011:0.0:0.7989:0.0	.	475	Q96JF6	ZN594_HUMAN	V	475;70	ENSP00000382513:L475V	ENSP00000373874:L70V	L	-	1	0	ZNF594	5026853	0.556000	0.26538	0.009000	0.14445	0.150000	0.21749	0.952000	0.29149	-0.004000	0.14419	0.313000	0.20887	CTT		PASS	0.473	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1	XM_290737		23	78	23	78	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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		183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	p.Y163C(95)|p.Y163N(17)|p.Y163H(17)|p.Y163*(7)|p.0?(7)|p.Y163S(4)|p.Y163Y(3)|p.Y163fs*1(2)|p.Y163D(2)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.I162_Y163delIY(1)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(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	CM942135	TP53	M	rs148924904	c.(487-489)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							53.0	54.0	53.0					17																	7578442		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.chr17:7578442T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	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_Missense_Mutation_p.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C	p.Y163C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	682	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.488A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		PASS	0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	82	33	82	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10356250	10356250	+	Splice_Site	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr17:10356250C>A	ENST00000255381.2	-	25	3222		c.e25-1		RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.?(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATCCTTCAAGCTAAATTTATG	0.348																																						uc002gmn.2																			1	Unknown(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.e25-1		myosin, heavy polypeptide 4, skeletal muscle							156.0	157.0	156.0					17																	10356250		2203	4300	6503	SO:0001630	splice_region_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356250C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3112-1G>T	17.37:g.10356250C>A						uc002gml.1_Intron	p.L1038_splice	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			25	3223	-									Splice_Site	SNP	ENST00000255381.2	37	c.3112_splice	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792999	0.70452	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1491	0.89668	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH4	10296975	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.775000	0.75018	2.699000	0.92147	0.563000	0.77884	.		PASS	0.348	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Intron	26	112	26	112	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11672439	11672439	+	Splice_Site	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr17:11672439G>T	ENST00000262442.4	+	38	7413	c.7345G>T	c.(7345-7347)Gcg>Tcg	p.A2449S	DNAH9_ENST00000454412.2_Splice_Site_p.A2449S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2449	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A2449S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCATTCCAGGCGTGTTTGGT	0.597																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(7345-7347)GCG>TCG		dynein, axonemal, heavy chain 9 isoform 2							80.0	78.0	78.0					17																	11672439		2203	4300	6503	SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11672439G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7345-1G>T	17.37:g.11672439G>T						DNAH9_uc010coo.2_Missense_Mutation_p.A1743S	p.A2449S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	38	7413	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2449			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7345G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390610	0.25118	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.47869	0.83;0.83	5.77	4.8	0.61643	.	0.365897	0.28296	N	0.015870	T	0.34250	0.0891	N	0.16708	0.43	0.80722	D	1	B	0.23185	0.081	B	0.30943	0.122	T	0.09975	-1.0650	9	.	.	.	.	15.0963	0.72238	0.0689:0.0:0.9311:0.0	.	2449	Q9NYC9	DYH9_HUMAN	S	2449;2449;1031	ENSP00000262442:A2449S;ENSP00000414874:A2449S	.	A	+	1	0	DNAH9	11613164	1.000000	0.71417	0.995000	0.50966	0.058000	0.15608	7.580000	0.82523	2.732000	0.93576	0.655000	0.94253	GCG		PASS	0.597	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation	22	85	22	85	---	---	---	---
TEKT3	64518	broad.mit.edu	37	17	15222447	15222447	+	Silent	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr17:15222447C>A	ENST00000395930.1	-	5	867	c.681G>T	c.(679-681)ctG>ctT	p.L227L	TEKT3_ENST00000338696.2_Silent_p.L227L	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	227					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.L227L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTTGACAACACAGAATAGTAT	0.294																																						uc002gon.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(679-681)CTG>CTT		tektin 3							117.0	115.0	116.0					17																	15222447		2203	4298	6501	SO:0001819	synonymous_variant	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15222447C>A	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.681G>T	17.37:g.15222447C>A							p.L227L	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	5	868	-			227					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	ENST00000395930.1	37	c.681G>T	CCDS11169.1																																																																																				PASS	0.294	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		4	47	4	47	---	---	---	---
CCDC144A	9720	broad.mit.edu	37	17	16612188	16612188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr17:16612188C>T	ENST00000360524.8	+	5	893	c.817C>T	c.(817-819)Caa>Taa	p.Q273*	CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.Q273*|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.Q273*|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000443444.2_Nonsense_Mutation_p.Q273*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.Q272*	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	273								p.Q273*(1)									TCCTCATGTGCAAAAATCTGA	0.368																																						uc002gqk.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(817-819)CAA>TAA		coiled-coil domain containing 144A							43.0	43.0	43.0					17																	16612188		1837	4093	5930	SO:0001587	stop_gained	9720							g.chr17:16612188C>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.817C>T	17.37:g.16612188C>T	ENSP00000353717:p.Gln273*					CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	p.Q273*	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			5	893	+			273					O60311|Q6ZU57	Nonsense_Mutation	SNP	ENST00000360524.8	37	c.817C>T	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	14.49	2.549632	0.45383	.	.	ENSG00000170160	ENST00000420937;ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	.	.	.	1.71	-3.41	0.04839	.	.	.	.	.	.	.	.	.	.	.	0.38840	D	0.956037	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	0.9662	0.01406	0.1977:0.2597:0.3636:0.1791	.	.	.	.	X	273;272;273;273;273;273;273	.	ENSP00000344740:Q272X	Q	+	1	0	CCDC144A	16552913	0.978000	0.34361	0.107000	0.21349	0.033000	0.12548	0.400000	0.20932	-0.414000	0.07495	0.175000	0.17021	CAA		PASS	0.368	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			8	43	8	43	---	---	---	---
LGALS9C	654346	broad.mit.edu	37	17	18395776	18395776	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr17:18395776G>T	ENST00000328114.6	+	9	759	c.678G>T	c.(676-678)atG>atT	p.M226I	LGALS9C_ENST00000581545.1_Missense_Mutation_p.M193I|LGALS9C_ENST00000412421.2_Missense_Mutation_p.M138I|LGALS9C_ENST00000583322.1_Missense_Mutation_p.M193I|LGALS9C_ENST00000584941.1_Missense_Mutation_p.M181I	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	226							carbohydrate binding (GO:0030246)	p.M226I(1)		NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						GACAGCCGATGCCTTTCATCA	0.572																																						uc002gtw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(676-678)ATG>ATT		galectin 9 like							47.0	40.0	43.0					17																	18395776		2191	4162	6353	SO:0001583	missense	654346						sugar binding	g.chr17:18395776G>T		CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.678G>T	17.37:g.18395776G>T	ENSP00000329932:p.Met226Ile					LGALS9C_uc010vyb.1_Missense_Mutation_p.M138I	p.M226I	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN			9	748	+			226					B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	c.678G>T	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	g	3.861	-0.029814	0.07589	.	.	ENSG00000171916	ENST00000412421;ENST00000328114	T;T	0.10382	2.88;2.88	2.26	-3.27	0.05048	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.881912	0.10038	N	0.723892	T	0.04272	0.0118	N	0.19112	0.55	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.44952	-0.9294	10	0.07482	T	0.82	.	2.2503	0.04042	0.3237:0.0:0.2559:0.4204	.	226	Q6DKI2	LEG9C_HUMAN	I	138;226	ENSP00000390286:M138I;ENSP00000329932:M226I	ENSP00000329932:M226I	M	+	3	0	LGALS9C	18336501	0.432000	0.25554	0.031000	0.17742	0.010000	0.07245	-0.382000	0.07408	-0.766000	0.04639	0.184000	0.17185	ATG		PASS	0.572	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		9	76	9	76	---	---	---	---
HEATR6	63897	broad.mit.edu	37	17	58151157	58151157	+	Missense_Mutation	SNP	G	G	C	rs374540210		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr17:58151157G>C	ENST00000184956.6	-	3	434	c.418C>G	c.(418-420)Ctt>Gtt	p.L140V	HEATR6_ENST00000585976.1_Missense_Mutation_p.L140V|HEATR6_ENST00000585712.1_5'Flank	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	140							poly(A) RNA binding (GO:0044822)	p.L140V(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGGGCTTGAAGAATTTCCCTG	0.443																																						uc002iyk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(418-420)CTT>GTT		HEAT repeat containing 6							106.0	102.0	103.0					17																	58151157		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58151157G>C	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.418C>G	17.37:g.58151157G>C	ENSP00000184956:p.Leu140Val					HEATR6_uc010wos.1_5'Flank	p.L140V	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		3	435	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		140					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.418C>G	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516633	0.85495	.	.	ENSG00000068097	ENST00000184956	T	0.65364	-0.15	4.74	4.74	0.60224	Armadillo-like helical (1);Armadillo-type fold (1);	0.142736	0.47852	D	0.000210	T	0.78349	0.4269	M	0.69823	2.125	0.48762	D	0.999704	D	0.69078	0.997	D	0.78314	0.991	T	0.81208	-0.1037	10	0.72032	D	0.01	-9.6829	17.1412	0.86754	0.0:0.0:1.0:0.0	.	140	Q6AI08	HEAT6_HUMAN	V	140	ENSP00000184956:L140V	ENSP00000184956:L140V	L	-	1	0	HEATR6	55505939	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	2.482000	0.45224	2.377000	0.81083	0.579000	0.79373	CTT		PASS	0.443	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		12	78	12	78	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65145983	65145983	+	Splice_Site	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr17:65145983C>A	ENST00000358691.5	-	19	2641	c.2475G>T	c.(2473-2475)caG>caT	p.Q825H	HELZ_ENST00000580168.1_Splice_Site_p.Q826H	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	825						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.Q825H(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGGCACTTACCTGCATGTGAT	0.383																																						uc010wqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2476-2478)CAG>CAT		helicase with zinc finger domain							116.0	110.0	112.0					17																	65145983		1932	4133	6065	SO:0001630	splice_region_variant	9931							g.chr17:65145983C>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2475+1G>T	17.37:g.65145983C>A						HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Q825H	p.Q826H	NM_014877	NP_055692					19	2665	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2478G>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736812	0.30774	.	.	ENSG00000198265	ENST00000358691	D	0.98901	-5.22	5.91	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.99360	0.9775	H	0.96833	3.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98448	1.0590	9	.	.	.	-13.128	11.2972	0.49284	0.0:0.8522:0.0:0.1478	.	826;825	B7ZLW2;P42694	.;HELZ_HUMAN	H	825	ENSP00000351524:Q825H	.	Q	-	3	2	HELZ	62576445	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	2.716000	0.47219	2.805000	0.96524	0.460000	0.39030	CAG		PASS	0.383	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877	Missense_Mutation	16	64	16	64	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71391492	71391492	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr17:71391492C>A	ENST00000392650.3	-	25	3394	c.3394G>T	c.(3394-3396)Gtg>Ttg	p.V1132L	SDK2_ENST00000388726.3_Missense_Mutation_p.V1132L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1132	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.V1132L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TTATAGCCCACGGACTCAGGG	0.622																																						uc010dfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3394-3396)GTG>TTG		sidekick 2							84.0	72.0	76.0					17																	71391492		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71391492C>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3394G>T	17.37:g.71391492C>A	ENSP00000376421:p.Val1132Leu					SDK2_uc002jjt.3_Missense_Mutation_p.V291L|SDK2_uc010dfn.2_Missense_Mutation_p.V811L	p.V1132L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			25	3394	-			1132			Extracellular (Potential).|Fibronectin type-III 6.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3394G>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053297	0.93793	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.56444	0.46;0.46;0.46	5.32	5.32	0.75619	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	N	0.20845	0.615	0.80722	D	1	P;P;P	0.44309	0.703;0.555;0.832	P;P;P	0.47603	0.551;0.475;0.551	T	0.46317	-0.9200	10	0.37606	T	0.19	.	19.0136	0.92884	0.0:1.0:0.0:0.0	.	1132;1132;1132	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	L	756;1132;1132;308;1132	ENSP00000376421:V1132L;ENSP00000373378:V1132L;ENSP00000407098:V308L	ENSP00000324967:V1132L	V	-	1	0	SDK2	68903087	1.000000	0.71417	0.967000	0.41034	0.982000	0.71751	7.431000	0.80335	2.492000	0.84095	0.561000	0.74099	GTG		PASS	0.622	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		8	48	8	48	---	---	---	---
CD300E	342510	broad.mit.edu	37	17	72613559	72613559	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr17:72613559C>A	ENST00000328630.3	-	2	126	c.86G>T	c.(85-87)gGg>gTg	p.G29V	CD300E_ENST00000426295.2_Missense_Mutation_p.G70V|CD300E_ENST00000392619.1_Missense_Mutation_p.G56V			Q496F6	CLM2_HUMAN	CD300e molecule	29	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G70V(1)|p.G29V(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGAGAGTCCCCCGCAGTGCC	0.552																																						uc002jlb.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|ovary(1)	4						c.(85-87)GGG>GTG		CD300e molecule precursor							84.0	65.0	71.0					17																	72613559		2203	4300	6503	SO:0001583	missense	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72613559C>A	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.86G>T	17.37:g.72613559C>A	ENSP00000329942:p.Gly29Val						p.G29V	NM_181449	NP_852114	Q496F6	CLM2_HUMAN			2	127	-			29			Ig-like V-type.|Extracellular (Potential).		B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	c.86G>T	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287778	0.59976	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51	4.78	4.78	0.61160	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000285	D	0.92519	0.7624	H	0.96365	3.81	0.41274	D	0.98686	D	0.89917	1.0	D	0.97110	1.0	D	0.94369	0.7594	10	0.72032	D	0.01	-23.9568	14.0323	0.64624	0.0:1.0:0.0:0.0	.	29	Q496F6	CLM2_HUMAN	V	56;70;29;31	ENSP00000376395:G56V;ENSP00000416642:G70V;ENSP00000329942:G29V;ENSP00000415488:G31V	ENSP00000329942:G29V	G	-	2	0	CD300E	70125154	0.095000	0.21747	0.168000	0.22838	0.007000	0.05969	2.489000	0.45285	2.594000	0.87642	0.591000	0.81541	GGG		PASS	0.552	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		12	33	12	33	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32428337	32428337	+	Missense_Mutation	SNP	C	C	A	rs147541731		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr18:32428337C>A	ENST00000399113.3	+	13	1343	c.1343C>A	c.(1342-1344)tCc>tAc	p.S448Y	DTNA_ENST00000598774.1_Missense_Mutation_p.S391Y|DTNA_ENST00000597674.1_Missense_Mutation_p.S70Y|DTNA_ENST00000597599.1_Missense_Mutation_p.S388Y|DTNA_ENST00000556414.3_Missense_Mutation_p.S100Y|DTNA_ENST00000399121.5_Missense_Mutation_p.S388Y|DTNA_ENST00000269192.7_Missense_Mutation_p.S157Y|DTNA_ENST00000399097.3_Missense_Mutation_p.S96Y|DTNA_ENST00000269191.6_Missense_Mutation_p.S448Y|DTNA_ENST00000444659.1_Missense_Mutation_p.S448Y|DTNA_ENST00000348997.5_Missense_Mutation_p.S445Y|DTNA_ENST00000601125.1_Missense_Mutation_p.S70Y|DTNA_ENST00000283365.9_Missense_Mutation_p.S391Y|DTNA_ENST00000591182.1_Missense_Mutation_p.S96Y|DTNA_ENST00000599844.1_Missense_Mutation_p.S70Y|DTNA_ENST00000598334.1_Missense_Mutation_p.S388Y|DTNA_ENST00000598142.1_Missense_Mutation_p.S391Y|DTNA_ENST00000595022.1_Missense_Mutation_p.S388Y|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.S449Y			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	448	Syntrophin-binding region.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.S449Y(1)|p.S448Y(1)|p.S96Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GCAGCAGAGTCCTCTTCGTCT	0.433																																						uc010dmn.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1342-1344)TCC>TAC		dystrobrevin alpha isoform 1							86.0	78.0	81.0					18																	32428337		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32428337C>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1343C>A	18.37:g.32428337C>A	ENSP00000382064:p.Ser448Tyr					DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.S391Y|DTNA_uc002kxw.2_Missense_Mutation_p.S391Y|DTNA_uc010dmj.2_Missense_Mutation_p.S388Y|DTNA_uc002kxz.2_Missense_Mutation_p.S388Y|DTNA_uc002kxy.2_Missense_Mutation_p.S388Y|DTNA_uc010dml.2_Missense_Mutation_p.S388Y|DTNA_uc002kyb.3_Missense_Mutation_p.S445Y|DTNA_uc010dmm.2_Missense_Mutation_p.S448Y|DTNA_uc010xby.1_Missense_Mutation_p.S138Y|DTNA_uc010dmo.2_Missense_Mutation_p.S70Y|DTNA_uc002kyd.3_Missense_Mutation_p.S70Y|DTNA_uc010xbz.1_Missense_Mutation_p.S157Y|DTNA_uc010xca.1_Missense_Mutation_p.S100Y|DTNA_uc002kye.2_Missense_Mutation_p.S96Y	p.S448Y	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN			13	1344	+			448			Syntrophin-binding region.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1343C>A	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520448	0.85495	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	D;D;D;D;D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21	5.4	5.4	0.78164	.	0.169428	0.52532	D	0.000067	D	0.88644	0.6492	L	0.29908	0.895	0.46458	D	0.99905	P;B;B;D;B;B;B;B;P;P;B;B;B;B	0.54047	0.508;0.134;0.198;0.964;0.088;0.377;0.239;0.238;0.508;0.606;0.024;0.396;0.082;0.115	P;B;B;P;B;B;B;B;P;B;B;B;B;B	0.58873	0.5;0.273;0.062;0.847;0.139;0.382;0.163;0.269;0.632;0.382;0.089;0.139;0.183;0.124	D	0.90075	0.4166	10	0.87932	D	0	-3.8614	17.362	0.87353	0.0:1.0:0.0:0.0	.	100;157;138;70;448;448;388;391;96;445;388;399;391;391	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	Y	391;391;388;449;96;445;448;448;448;448;157;96;100	ENSP00000283365:S391Y;ENSP00000269190:S449Y;ENSP00000382048:S96Y;ENSP00000336682:S445Y;ENSP00000405819:S448Y;ENSP00000269191:S448Y;ENSP00000382064:S448Y;ENSP00000269192:S157Y;ENSP00000452255:S100Y	ENSP00000269190:S449Y	S	+	2	0	DTNA	30682335	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.902000	0.63266	2.536000	0.85505	0.655000	0.94253	TCC		PASS	0.433	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		7	47	7	47	---	---	---	---
MOCOS	55034	broad.mit.edu	37	18	33800110	33800110	+	Silent	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr18:33800110G>A	ENST00000261326.5	+	9	1911	c.1890G>A	c.(1888-1890)caG>caA	p.Q630Q		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.Q630Q(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTCAGAAGCAGGAACCCCGGC	0.512																																						uc002kzq.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1888-1890)CAG>CAA		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						137.0	120.0	126.0					18																	33800110		2203	4300	6503	SO:0001819	synonymous_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33800110G>A	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1890G>A	18.37:g.33800110G>A							p.Q630Q	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			9	1913	+			630						Silent	SNP	ENST00000261326.5	37	c.1890G>A	CCDS11919.1																																																																																				PASS	0.512	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			13	87	13	87	---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77895149	77895149	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr18:77895149C>T	ENST00000262198.4	+	4	2308	c.1853C>T	c.(1852-1854)gCc>gTc	p.A618V		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	618					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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.A618V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TACACGCTGGCCCCCGTGTCT	0.602																																						uc002lnw.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1852-1854)GCC>GTC		ADNP homeobox 2							90.0	88.0	89.0					18																	77895149		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895149C>T	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1853C>T	18.37:g.77895149C>T	ENSP00000262198:p.Ala618Val						p.A618V	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2308	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	618					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.1853C>T	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651858	0.67472	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000004	T	0.75932	0.3917	L	0.59436	1.845	0.41168	D	0.986147	D	0.89917	1.0	D	0.74348	0.983	T	0.75499	-0.3296	8	.	.	.	-27.4051	18.19	0.89804	0.0:1.0:0.0:0.0	.	618	Q6IQ32	ADNP2_HUMAN	V	618	.	.	A	+	2	0	ADNP2	75996140	1.000000	0.71417	0.974000	0.42286	0.795000	0.44927	3.548000	0.53670	2.537000	0.85549	0.650000	0.86243	GCC		PASS	0.602	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		12	66	12	66	---	---	---	---
ZNF554	115196	broad.mit.edu	37	19	2832368	2832368	+	Silent	SNP	A	A	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:2832368A>T	ENST00000317243.5	+	4	519	c.321A>T	c.(319-321)tcA>tcT	p.S107S	ZNF554_ENST00000591265.1_Silent_p.S107S	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	107	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S107S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		CACAAACCTCACAAGTCACTA	0.453																																						uc002lwm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(319-321)TCA>TCT		zinc finger protein 554							159.0	156.0	157.0					19																	2832368		1864	4114	5978	SO:0001819	synonymous_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2832368A>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.321A>T	19.37:g.2832368A>T						ZNF554_uc002lwl.2_Silent_p.S56S	p.S107S	NM_001102651	NP_001096121	Q86TJ5	ZN554_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)	4	519	+		Hepatocellular(1079;0.137)	107			KRAB.		Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	37	c.321A>T	CCDS42462.1																																																																																				PASS	0.453	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		27	151	27	151	---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5077390	5077390	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:5077390G>T	ENST00000159111.4	+	8	907	c.689G>T	c.(688-690)gGg>gTg	p.G230V	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.G230V|KDM4B_ENST00000381759.4_Missense_Mutation_p.G230V	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	230	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)	p.G230V(2)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TTCTTCCCCGGGAGCTCGCAG	0.642																																						uc002mbq.3																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(688-690)GGG>GTG		jumonji domain containing 2B							117.0	124.0	121.0					19																	5077390		2203	4300	6503	SO:0001583	missense	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5077390G>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.689G>T	19.37:g.5077390G>T	ENSP00000159111:p.Gly230Val					KDM4B_uc010xil.1_Missense_Mutation_p.G230V|KDM4B_uc010xim.1_Missense_Mutation_p.G230V|KDM4B_uc002mbr.3_5'UTR	p.G230V	NM_015015	NP_055830	O94953	KDM4B_HUMAN			8	915	+			230			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	c.689G>T	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116251	0.56505	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.72615	-0.67;-0.67;-0.67	4.52	4.52	0.55395	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.059913	0.64402	D	0.000002	D	0.84302	0.5442	M	0.83118	2.625	0.80722	D	1	P;D;P	0.63046	0.703;0.992;0.897	B;D;P	0.64595	0.351;0.927;0.774	D	0.87346	0.2334	10	0.66056	D	0.02	-46.8584	17.2595	0.87066	0.0:0.0:1.0:0.0	.	230;230;230	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	V	230	ENSP00000159111:G230V;ENSP00000371178:G230V;ENSP00000440495:G230V	ENSP00000159111:G230V	G	+	2	0	KDM4B	5028390	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	5.530000	0.67141	2.066000	0.61787	0.462000	0.41574	GGG		PASS	0.642	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		49	354	49	354	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6937277	6937277	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:6937277C>A	ENST00000312053.4	+	19	2442	c.2405C>A	c.(2404-2406)gCc>gAc	p.A802D	EMR1_ENST00000250572.8_Missense_Mutation_p.A737D|EMR1_ENST00000381404.4_Missense_Mutation_p.A783D|EMR1_ENST00000381407.5_Missense_Mutation_p.A661D|EMR1_ENST00000450315.3_Missense_Mutation_p.A625D	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	802					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A802D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AAGGCCTTTGCCCAGCTCTTC	0.542																																						uc002mfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(2404-2406)GCC>GAC		egf-like module containing, mucin-like, hormone							138.0	130.0	133.0					19																	6937277		2203	4300	6503	SO:0001583	missense	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6937277C>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2405C>A	19.37:g.6937277C>A	ENSP00000311545:p.Ala802Asp					EMR1_uc010dvc.2_Missense_Mutation_p.A737D|EMR1_uc010dvb.2_Missense_Mutation_p.A783D|EMR1_uc010xji.1_Missense_Mutation_p.A661D|EMR1_uc010xjj.1_Missense_Mutation_p.A625D	p.A802D	NM_001974	NP_001965	Q14246	EMR1_HUMAN			19	2443	+	all_hematologic(4;0.166)		802			Helical; Name=6; (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	37	c.2405C>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	c	18.32	3.598744	0.66332	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	4.83	2.65	0.31530	GPCR, family 2-like (1);	.	.	.	.	T	0.67011	0.2848	M	0.92880	3.355	0.36250	D	0.85387	D;D;D;D;P	0.76494	0.997;0.971;0.999;0.989;0.946	D;P;D;D;P	0.74674	0.939;0.867;0.984;0.913;0.897	T	0.74662	-0.3590	9	0.87932	D	0	.	7.4489	0.27227	0.0:0.7209:0.0:0.2791	.	625;661;737;783;802	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	D	737;802;783;737;661;625	ENSP00000311545:A802D;ENSP00000370811:A783D;ENSP00000250572:A737D;ENSP00000370814:A661D;ENSP00000405974:A625D	ENSP00000250572:A737D	A	+	2	0	EMR1	6888277	0.993000	0.37304	0.979000	0.43373	0.949000	0.60115	2.592000	0.46171	1.042000	0.40150	0.632000	0.83419	GCC		PASS	0.542	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			31	158	31	158	---	---	---	---
C3P1	388503	broad.mit.edu	37	19	10157814	10157814	+	RNA	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:10157814C>A	ENST00000495140.1	+	0	1130							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)	p.P29T(1)		endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CTCCCATTACCCCATCTCTGT	0.527																																						uc010dwx.1																			1	Substitution - Missense(1)		lung(1)		0								Synthetic construct DNA, clone: pF1KB7402, Homo sapiens LOC388503 gene, without stop codon, in Flexi system.							391.0	369.0	376.0					19																	10157814		2080	4213	6293			388503							g.chr19:10157814C>A	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10157814C>A								NR_027300						10		+									RNA	SNP	ENST00000495140.1	37	c.1365C>A																																																																																					PASS	0.527	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		100	538	100	538	---	---	---	---
ICAM3	3385	broad.mit.edu	37	19	10444585	10444585	+	Missense_Mutation	SNP	G	G	T	rs372536524		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:10444585G>T	ENST00000160262.5	-	7	1800	c.1592C>A	c.(1591-1593)aCg>aAg	p.T531K	ICAM3_ENST00000589261.1_Missense_Mutation_p.T454K|RAVER1_ENST00000293677.6_5'Flank	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	531					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)	p.T531K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CTGCATAGACGTGAGGGGCAG	0.587																																						uc002mob.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1591-1593)ACG>AAG		intercellular adhesion molecule 3 precursor		G	LYS/THR	1,4405	2.1+/-5.4	0,1,2202	188.0	166.0	173.0		1592	-5.0	0.0	19		173	1,8599	1.2+/-3.3	0,1,4299	no	missense	ICAM3	NM_002162.3	78	0,2,6501	TT,TG,GG		0.0116,0.0227,0.0154	benign	531/548	10444585	2,13004	2203	4300	6503	SO:0001583	missense	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10444585G>T		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.1592C>A	19.37:g.10444585G>T	ENSP00000160262:p.Thr531Lys					RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.T454K	p.T531K	NM_002162	NP_002153	P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		7	1647	-			531			Cytoplasmic (Potential).		Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	c.1592C>A	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111492	0.56398	2.27E-4	1.16E-4	ENSG00000076662	ENST00000160262	T	0.02709	4.19	4.48	-4.96	0.03038	.	0.669254	0.12814	N	0.436946	T	0.01627	0.0052	L	0.29908	0.895	0.09310	N	1	B	0.26147	0.143	B	0.17433	0.018	T	0.48801	-0.9003	10	0.02654	T	1	-1.6114	9.0498	0.36369	0.0:0.5145:0.2049:0.2806	.	531	P32942	ICAM3_HUMAN	K	531	ENSP00000160262:T531K	ENSP00000160262:T531K	T	-	2	0	ICAM3	10305585	0.000000	0.05858	0.000000	0.03702	0.639000	0.38242	-0.823000	0.04443	-0.378000	0.07918	0.561000	0.74099	ACG		PASS	0.587	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1			27	203	27	203	---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11118656	11118656	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:11118656G>T	ENST00000429416.3	+	15	2361	c.2080G>T	c.(2080-2082)Gac>Tac	p.D694Y	SMARCA4_ENST00000450717.3_Missense_Mutation_p.D694Y|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D694Y|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D694Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D694Y|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D694Y|SMARCA4_ENST00000358026.2_Missense_Mutation_p.D694Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D694Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D694Y	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	694					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.D694Y(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCAGATCCAGACAGCGATGA	0.597			"""F, N, Mis"""		NSCLC																																	uc002mqf.3				Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Substitution - Missense(2)|Unknown(1)	p.?(1)	lung(3)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(2080-2082)GAC>TAC		SWI/SNF-related matrix-associated							113.0	87.0	96.0					19																	11118656		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11118656G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2080G>T	19.37:g.11118656G>T	ENSP00000395654:p.Asp694Tyr					SMARCA4_uc010dxp.2_Missense_Mutation_p.D694Y|SMARCA4_uc010dxo.2_Missense_Mutation_p.D694Y|SMARCA4_uc002mqg.1_Missense_Mutation_p.D694Y|SMARCA4_uc010dxq.2_Missense_Mutation_p.D694Y|SMARCA4_uc010dxr.2_Missense_Mutation_p.D694Y|SMARCA4_uc002mqj.3_Missense_Mutation_p.D694Y|SMARCA4_uc010dxs.2_Missense_Mutation_p.D694Y	p.D694Y	NM_003072	NP_003063	P51532	SMCA4_HUMAN			14	2364	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	694					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2080G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345147	0.61073	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.25;-2.26;-2.26	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.86070	0.5845	L	0.44542	1.39	0.58432	D	0.999999	P;B;B;B;P;B;B	0.49961	0.69;0.035;0.035;0.001;0.93;0.19;0.19	B;B;B;B;P;B;B	0.45881	0.269;0.017;0.017;0.007;0.496;0.125;0.125	D	0.87567	0.2475	10	0.62326	D	0.03	-37.3872	17.6521	0.88167	0.0:0.0:1.0:0.0	.	694;694;694;694;694;694;694	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	Y	694;694;758;694;694;694;694;694	ENSP00000395654:D694Y;ENSP00000350720:D694Y;ENSP00000343896:D694Y;ENSP00000445036:D694Y;ENSP00000392837:D694Y;ENSP00000397783:D694Y;ENSP00000414727:D694Y	ENSP00000343896:D694Y	D	+	1	0	SMARCA4	10979656	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.056000	0.57448	2.709000	0.92574	0.561000	0.74099	GAC		PASS	0.597	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		6	57	6	57	---	---	---	---
MAN2B1	4125	broad.mit.edu	37	19	12769297	12769297	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:12769297G>C	ENST00000456935.2	-	8	1094	c.1054C>G	c.(1054-1056)Ctc>Gtc	p.L352V	MAN2B1_ENST00000221363.4_Missense_Mutation_p.L351V|MAN2B1_ENST00000495617.1_Intron	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	352			L -> P (in MANSA; results in less than 20% of wild-type enzyme activity). {ECO:0000269|PubMed:22161967}.		cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.L352V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGAGTAGAGAACATGGACA	0.617																																						uc002mub.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(1054-1056)CTC>GTC		mannosidase, alpha, class 2B, member 1							63.0	55.0	58.0					19																	12769297		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12769297G>C		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1054C>G	19.37:g.12769297G>C	ENSP00000395473:p.Leu352Val					MAN2B1_uc010dyv.1_Missense_Mutation_p.L351V	p.L352V	NM_000528	NP_000519	O00754	MA2B1_HUMAN			8	1130	-			352					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1054C>G	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535780	0.64972	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.78246	-1.16;-1.16	4.88	4.88	0.63580	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.225368	0.22804	N	0.055438	T	0.81069	0.4746	M	0.73217	2.22	0.43050	D	0.994654	P;P	0.50819	0.939;0.615	P;B	0.51657	0.676;0.403	T	0.82932	-0.0212	10	0.66056	D	0.02	-42.6563	9.261	0.37612	0.099:0.0:0.901:0.0	.	351;352	G5E928;O00754	.;MA2B1_HUMAN	V	352;291;351	ENSP00000395473:L352V;ENSP00000221363:L351V	ENSP00000221363:L351V	L	-	1	0	MAN2B1	12630297	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	4.158000	0.58150	2.249000	0.74217	0.460000	0.39030	CTC		PASS	0.617	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			3	57	3	57	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16910890	16910890	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:16910890C>G	ENST00000552788.1	+	15	3653	c.3653C>G	c.(3652-3654)aCc>aGc	p.T1218S	CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000549814.1_Missense_Mutation_p.T1176S|NWD1_ENST00000523826.1_Missense_Mutation_p.T1012S|NWD1_ENST00000339803.6_Missense_Mutation_p.T1083S|NWD1_ENST00000379808.3_Missense_Mutation_p.T1218S|NWD1_ENST00000524140.2_Missense_Mutation_p.T1218S			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1218							ATP binding (GO:0005524)	p.T1218S(1)|p.T1083S(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCGGCCTCACCGCAGTGTCC	0.522																																						uc002neu.3																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)	7						c.(3652-3654)ACC>AGC		RecName: Full=NACHT and WD repeat domain-containing protein 1;							76.0	67.0	70.0					19																	16910890		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16910890C>G	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3653C>G	19.37:g.16910890C>G	ENSP00000447224:p.Thr1218Ser					NWD1_uc002net.3_Missense_Mutation_p.T1083S|NWD1_uc002nev.3_Missense_Mutation_p.T1012S	p.T1218S			Q149M9	NWD1_HUMAN			17	4075	+			1218			WD 10.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3653C>G		.	.	.	.	.	.	.	.	.	.	C	12.74	2.029900	0.35797	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.72051	0.32;-0.62;0.32;2.23;1.58;2.23	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.482456	0.20090	N	0.099471	T	0.58991	0.2161	L	0.39898	1.24	0.09310	N	0.999994	B;B;B	0.34103	0.146;0.206;0.437	B;B;B	0.28991	0.057;0.085;0.097	T	0.57911	-0.7729	10	0.52906	T	0.07	-9.0602	10.1431	0.42747	0.0:0.9086:0.0:0.0914	.	1218;1218;1083	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	S	1083;1218;1176;1218;1012;1218;1083	ENSP00000428579:T1218S;ENSP00000447548:T1176S;ENSP00000369136:T1218S;ENSP00000428955:T1012S;ENSP00000447224:T1218S;ENSP00000340159:T1083S	ENSP00000340159:T1083S	T	+	2	0	NWD1	16771890	0.564000	0.26602	0.738000	0.30950	0.587000	0.36485	0.989000	0.29629	2.524000	0.85096	0.655000	0.94253	ACC		PASS	0.522	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		23	99	23	99	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154987	22154987	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:22154987C>A	ENST00000397126.4	-	4	2997	c.2849G>T	c.(2848-2850)tGt>tTt	p.C950F	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	950					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C850F(2)|p.C950F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGCTTTGCCACATGCTTCACA	0.363																																						uc002nqp.2																			3	Substitution - Missense(3)		lung(3)	ovary(5)|skin(2)	7						c.(2548-2550)TGT>TTT		zinc finger protein 208							39.0	42.0	41.0					19																	22154987		2051	4213	6264	SO:0001583	missense	7757							g.chr19:22154987C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2849G>T	19.37:g.22154987C>A	ENSP00000380315:p.Cys950Phe					ZNF208_uc002nqo.1_Intron	p.C850F	NM_007153	NP_009084					5	2698	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2549G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	c	15.79	2.936704	0.52972	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.85861	-2.04	3.0	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.90803	0.7112	.	.	.	0.45541	D	0.998497	D	0.76494	0.999	D	0.65684	0.937	D	0.91748	0.5410	8	0.87932	D	0	.	12.8594	0.57906	0.0:1.0:0.0:0.0	.	850	O43345	ZN208_HUMAN	F	950;850	ENSP00000380315:C950F	ENSP00000380315:C950F	C	-	2	0	ZNF208	21946827	1.000000	0.71417	0.004000	0.12327	0.270000	0.26580	5.447000	0.66606	1.287000	0.44583	0.109000	0.15622	TGT		PASS	0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		9	27	9	27	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769875	31769875	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:31769875A>G	ENST00000240587.4	-	2	1151	c.824T>C	c.(823-825)cTg>cCg	p.L275P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	275					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L275P(1)|p.L92P(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CATGCACTTCAGCACCTTCTG	0.507																																						uc002nsy.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(823-825)CTG>CCG		zinc finger protein 537							153.0	133.0	140.0					19																	31769875		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769875A>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.824T>C	19.37:g.31769875A>G	ENSP00000240587:p.Leu275Pro						p.L275P	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	889	-	Esophageal squamous(110;0.226)		275			C2H2-type 2.		Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.824T>C	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469805	0.63625	.	.	ENSG00000121297	ENST00000240587	T	0.29397	1.57	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.50735	0.1633	L	0.54323	1.7	0.80722	D	1	D	0.60575	0.988	D	0.67900	0.954	T	0.52147	-0.8614	10	0.87932	D	0	-8.8866	15.9132	0.79488	1.0:0.0:0.0:0.0	.	275	Q63HK5	TSH3_HUMAN	P	275	ENSP00000240587:L275P	ENSP00000240587:L275P	L	-	2	0	TSHZ3	36461715	1.000000	0.71417	0.864000	0.33941	0.995000	0.86356	8.962000	0.93254	2.148000	0.66965	0.533000	0.62120	CTG		PASS	0.507	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		23	401	23	401	---	---	---	---
DPY19L3	147991	broad.mit.edu	37	19	32971316	32971316	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:32971316A>G	ENST00000342179.5	+	18	2057	c.1842A>G	c.(1840-1842)atA>atG	p.I614M	DPY19L3_ENST00000392250.2_Missense_Mutation_p.I614M|DPY19L3_ENST00000586987.1_Missense_Mutation_p.I614M	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	614						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.I614M(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTTATCAGATATATGCCAAGA	0.483																																						uc002ntg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1840-1842)ATA>ATG		dpy-19-like 3							67.0	64.0	65.0					19																	32971316		2203	4300	6503	SO:0001583	missense	147991					integral to membrane		g.chr19:32971316A>G		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1842A>G	19.37:g.32971316A>G	ENSP00000344937:p.Ile614Met					DPY19L3_uc002nth.1_Missense_Mutation_p.I614M|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_Missense_Mutation_p.I36M	p.I614M	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			18	2018	+	Esophageal squamous(110;0.162)		614					Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	ENST00000342179.5	37	c.1842A>G	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.734112	0.48939	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	T;T	0.57436	0.4;0.4	5.43	-3.07	0.05363	.	0.113382	0.64402	D	0.000011	T	0.35828	0.0945	L	0.38733	1.17	0.39251	D	0.964047	B	0.32302	0.363	B	0.33960	0.173	T	0.05550	-1.0878	10	0.29301	T	0.29	-20.4947	9.3643	0.38215	0.2436:0.6036:0.0605:0.0923	.	614	Q6ZPD9	D19L3_HUMAN	M	614	ENSP00000376081:I614M;ENSP00000344937:I614M	ENSP00000344937:I614M	I	+	3	3	DPY19L3	37663156	0.053000	0.20554	0.916000	0.36221	0.965000	0.64279	-0.525000	0.06214	-1.202000	0.02655	0.460000	0.39030	ATA		PASS	0.483	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		5	113	5	113	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33132955	33132955	+	Silent	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:33132955G>C	ENST00000306065.4	-	10	1037	c.879C>G	c.(877-879)ctC>ctG	p.L293L	ANKRD27_ENST00000587352.1_Silent_p.L293L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	293	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.L293L(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ACTGTGTAATGAGCTGCACCA	0.498																																						uc002ntn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(877-879)CTC>CTG		ankyrin repeat domain 27 (VPS9 domain)							152.0	138.0	143.0					19																	33132955		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33132955G>C	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.879C>G	19.37:g.33132955G>C						ANKRD27_uc002nto.1_Silent_p.L293L	p.L293L	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			10	1035	-	Esophageal squamous(110;0.137)		293			VPS9.		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.879C>G	CCDS32986.1																																																																																				PASS	0.498	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		11	340	11	340	---	---	---	---
ZNF383	163087	broad.mit.edu	37	19	37734025	37734025	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:37734025A>T	ENST00000589413.1	+	8	1470	c.887A>T	c.(886-888)cAa>cTa	p.Q296L	ZNF383_ENST00000590503.1_Missense_Mutation_p.Q296L|ZNF383_ENST00000352998.3_Missense_Mutation_p.Q296L			Q8NA42	ZN383_HUMAN	zinc finger protein 383	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q296L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGAGCTCACAACTTTTTCAG	0.388																																						uc002oft.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(886-888)CAA>CTA		zinc finger protein 383							64.0	62.0	63.0					19																	37734025		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37734025A>T	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.887A>T	19.37:g.37734025A>T	ENSP00000464871:p.Gln296Leu					ZNF383_uc002ofs.1_Missense_Mutation_p.Q231L|ZNF383_uc002ofu.1_Missense_Mutation_p.Q296L	p.Q296L	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		8	1467	+			296			C2H2-type 5.		Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.887A>T	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	A	12.62	1.991408	0.35131	.	.	ENSG00000188283	ENST00000352998	T	0.07327	3.2	3.69	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30492	N	0.009518	T	0.05227	0.0139	N	0.04063	-0.285	0.19575	N	0.999964	B	0.29936	0.262	B	0.39562	0.303	T	0.46484	-0.9188	10	0.21540	T	0.41	.	10.6496	0.45640	1.0:0.0:0.0:0.0	.	296	Q8NA42	ZN383_HUMAN	L	296	ENSP00000340132:Q296L	ENSP00000340132:Q296L	Q	+	2	0	ZNF383	42425865	0.000000	0.05858	0.998000	0.56505	0.974000	0.67602	0.135000	0.15952	1.665000	0.50811	0.460000	0.39030	CAA		PASS	0.388	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		14	66	14	66	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43576011	43576011	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:43576011C>A	ENST00000406487.1	-	4	903	c.805G>T	c.(805-807)Gca>Tca	p.A269S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	269	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.A269S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GAATACTGTGCCGGTGGGTTA	0.453																																						uc002ovr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(805-807)GCA>TCA		pregnancy specific beta-1-glycoprotein 2							179.0	189.0	186.0					19																	43576011		2202	4299	6501	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576011C>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.805G>T	19.37:g.43576011C>A	ENSP00000385706:p.Ala269Ser					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.A269S|PSG2_uc010eiq.1_Missense_Mutation_p.A269S|PSG2_uc002ovs.3_Missense_Mutation_p.A269S|PSG2_uc002ovt.3_Missense_Mutation_p.A269S	p.A269S	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	898	-		Prostate(69;0.00682)	269			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.805G>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	c	11.77	1.738812	0.30774	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.73047	-0.71	1.26	1.26	0.21427	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76083	0.3938	M	0.80183	2.485	0.09310	N	1	P;B	0.40066	0.701;0.03	P;B	0.51487	0.671;0.095	T	0.63097	-0.6713	9	0.30854	T	0.27	.	5.8601	0.18743	0.0:1.0:0.0:0.0	.	269;269	B5MCM8;P11465	.;PSG2_HUMAN	S	269	ENSP00000385706:A269S	ENSP00000332984:A269S	A	-	1	0	PSG2	48267851	0.404000	0.25328	0.037000	0.18230	0.033000	0.12548	0.321000	0.19558	0.659000	0.30945	0.398000	0.26397	GCA		PASS	0.453	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		151	149	151	149	---	---	---	---
ZNF222	7673	broad.mit.edu	37	19	44536384	44536384	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:44536384C>T	ENST00000187879.8	+	4	719	c.557C>T	c.(556-558)tCa>tTa	p.S186L	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.S226L	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	186					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.S226L(1)|p.S186L(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AGTCAGAGCTCACGTCTGCAA	0.433																																						uc002oyc.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(556-558)TCA>TTA		zinc finger protein 222 isoform 2							140.0	143.0	142.0					19																	44536384		2203	4300	6503	SO:0001583	missense	7673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44536384C>T	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.557C>T	19.37:g.44536384C>T	ENSP00000187879:p.Ser186Leu					ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.S226L|ZNF222_uc002oyd.2_Missense_Mutation_p.S132L	p.S186L	NM_013360	NP_037492	Q9UK12	ZN222_HUMAN			4	740	+		Prostate(69;0.0435)	186			C2H2-type 2.		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	c.557C>T	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332376	0.41297	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.07444	3.19;4.68	2.79	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12732	0.0309	M	0.77712	2.385	0.09310	N	1	B;B	0.18968	0.032;0.019	B;B	0.23275	0.045;0.02	T	0.14117	-1.0484	9	0.87932	D	0	.	7.1574	0.25645	0.0:0.8644:0.0:0.1356	.	226;186	G5E9B9;Q9UK12	.;ZN222_HUMAN	L	226;186;132	ENSP00000375822:S226L;ENSP00000187879:S186L	ENSP00000187879:S186L	S	+	2	0	ZNF222	49228224	0.000000	0.05858	0.334000	0.25495	0.769000	0.43574	0.051000	0.14141	1.531000	0.49152	0.205000	0.17691	TCA		PASS	0.433	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2			15	246	15	246	---	---	---	---
ZNF112	7771	broad.mit.edu	37	19	44844670	44844670	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:44844670C>T	ENST00000337401.4	-	3	128	c.40G>A	c.(40-42)Gct>Act	p.A14T	ZNF112_ENST00000354340.4_Missense_Mutation_p.A8T|CTC-512J12.6_ENST00000588212.1_Missense_Mutation_p.A13T|ZNF112_ENST00000536500.1_Missense_Mutation_p.A31T	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A8T(1)|p.A14T(1)									AAGACCACAGCAACATCCTTG	0.502																																						uc010ejj.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(40-42)GCT>ACT		zinc finger protein 228 isoform 1							204.0	178.0	186.0					19																	44844670		2203	4300	6503	SO:0001583	missense	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44844670C>T	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.40G>A	19.37:g.44844670C>T	ENSP00000337081:p.Ala14Thr					ZFP112_uc002ozc.3_Missense_Mutation_p.A8T|ZFP112_uc010xwy.1_Missense_Mutation_p.A31T|ZFP112_uc010xwz.1_Missense_Mutation_p.A13T	p.A14T	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			3	153	-			14			KRAB.		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.40G>A	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745994	0.69418	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.03065	4.06;4.06;4.06	4.0	4.0	0.46444	Krueppel-associated box (4);	0.000000	0.33916	N	0.004437	T	0.16471	0.0396	M	0.79011	2.435	0.35320	D	0.784692	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.06445	-1.0826	10	0.62326	D	0.03	-17.4897	11.8137	0.52197	0.0:1.0:0.0:0.0	.	13;31;14	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	T	14;14;8;31;13	ENSP00000337081:A14T;ENSP00000346305:A8T;ENSP00000441990:A31T	ENSP00000253426:A13T	A	-	1	0	ZNF285	49536510	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	3.685000	0.54678	2.223000	0.72356	0.557000	0.71058	GCT		PASS	0.502	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		86	144	86	144	---	---	---	---
CEACAM20	125931	broad.mit.edu	37	19	45029245	45029245	+	RNA	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:45029245C>G	ENST00000454753.1	-	0	363							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)		p.A29P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGCTGGGCTGCAGCTGGAGGA	0.582																																						uc010ejn.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(85-87)GCA>CCA		carcinoembryonic antigen-related cell adhesion							105.0	113.0	110.0					19																	45029245		2100	4217	6317			125931					integral to membrane		g.chr19:45029245C>G	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029245C>G						CEACAM20_uc010ejo.1_Missense_Mutation_p.A29P|CEACAM20_uc010ejp.1_Missense_Mutation_p.A29P|CEACAM20_uc010ejq.1_Missense_Mutation_p.A29P	p.A29P	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			2	101	-		Prostate(69;0.0352)	29						Missense_Mutation	SNP	ENST00000454753.1	37	c.85G>C																																																																																					PASS	0.582	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		24	158	24	158	---	---	---	---
KLK2	3817	broad.mit.edu	37	19	51377982	51377982	+	Missense_Mutation	SNP	G	G	T	rs6072	byFrequency	TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:51377982G>T	ENST00000325321.3	+	2	277	c.52G>T	c.(52-54)Gtg>Ttg	p.V18L	KLK2_ENST00000597509.1_3'UTR|KLK2_ENST00000391810.2_Intron|AC037199.1_ENST00000594218.1_Intron|KLK2_ENST00000358049.4_Missense_Mutation_p.V18L			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	18			V -> L (in dbSNP:rs6072). {ECO:0000269|PubMed:10391209}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)	p.V18L(2)	KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CGCAGGTGCCGTGCCCCTCAT	0.602			T	ETV4	prostate																																	uc002ptv.2				Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate		2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(52-54)GTG>TTG		kallikrein 2, prostatic isoform 1							63.0	53.0	56.0					19																	51377982		2203	4300	6503	SO:0001583	missense	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51377982G>T	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.52G>T	19.37:g.51377982G>T	ENSP00000313581:p.Val18Leu					KLK2_uc010eog.2_Intron|KLK2_uc010yck.1_Missense_Mutation_p.V18L|KLK2_uc002ptu.2_Missense_Mutation_p.V18L|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_5'UTR|KLK2_uc010ycm.1_Intron|KLK2_uc010eoh.2_5'Flank	p.V18L	NM_005551	NP_005542	P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	2	93	+		all_neural(266;0.026)	18					B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	ENST00000325321.3	37	c.52G>T	CCDS12808.1	.	.	.	.	.	.	.	.	.	.	G	3.595	-0.082684	0.07141	.	.	ENSG00000167751	ENST00000325321;ENST00000358049	D;D	0.88431	-2.38;-2.32	2.46	1.33	0.21861	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	T	0.77519	0.4142	N	0.17564	0.495	0.09310	N	0.99999	B;B	0.16603	0.018;0.006	B;B	0.18263	0.021;0.006	T	0.61811	-0.6986	9	0.25106	T	0.35	.	6.9471	0.24524	0.0:0.0:0.7284:0.2716	.	18;18	P20151-2;P20151	.;KLK2_HUMAN	L	18	ENSP00000313581:V18L;ENSP00000350748:V18L	ENSP00000313581:V18L	V	+	1	0	KLK2	56069794	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.390000	0.20768	0.280000	0.22209	0.455000	0.32223	GTG		PASS	0.602	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		14	85	14	85	---	---	---	---
LILRA3	11026	broad.mit.edu	37	19	54803681	54803681	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:54803681C>G	ENST00000251390.3	-	3	234	c.143G>C	c.(142-144)aGg>aCg	p.R48T	LILRA3_ENST00000391745.1_Missense_Mutation_p.R65T|LILRA3_ENST00000391744.3_Missense_Mutation_p.R48T	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	48	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.R48T(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCCTGACACCTGAGGGTCAC	0.552																																						uc002qfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(142-144)AGG>ACG		leukocyte immunoglobulin-like receptor,							90.0	80.0	84.0					19																	54803681		2194	4156	6350	SO:0001583	missense	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54803681C>G	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.143G>C	19.37:g.54803681C>G	ENSP00000251390:p.Arg48Thr					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.R48T	p.R48T	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	208	-	Ovarian(34;0.19)		48			Ig-like C2-type 1.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.143G>C	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968873	0.34754	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.09817	2.94;2.94;2.94	2.5	2.5	0.30297	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.892288	0.09529	N	0.789859	T	0.24160	0.0585	M	0.67569	2.06	0.24889	N	0.992171	P;P	0.40050	0.55;0.7	B;P	0.53006	0.189;0.715	T	0.11567	-1.0582	10	0.72032	D	0.01	.	8.5768	0.33603	0.0:1.0:0.0:0.0	.	48;48	E7EU74;Q8N6C8	.;LIRA3_HUMAN	T	48;48;65	ENSP00000251390:R48T;ENSP00000375624:R48T;ENSP00000375625:R65T	ENSP00000251390:R48T	R	-	2	0	LILRA3	59495493	0.992000	0.36948	0.993000	0.49108	0.146000	0.21551	0.616000	0.24344	1.452000	0.47756	0.485000	0.47835	AGG		PASS	0.552	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			7	121	7	121	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56390285	56390285	+	Missense_Mutation	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:56390285T>C	ENST00000301295.6	+	9	3244	c.2822T>C	c.(2821-2823)cTc>cCc	p.L941P	NLRP4_ENST00000346986.5_Missense_Mutation_p.L885P|NLRP4_ENST00000587891.1_Missense_Mutation_p.L866P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	941					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L941P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTGGTTGTACTCTGTGAGGCC	0.582																																						uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2821-2823)CTC>CCC		NLR family, pyrin domain containing 4							84.0	72.0	76.0					19																	56390285		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56390285T>C	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2822T>C	19.37:g.56390285T>C	ENSP00000301295:p.Leu941Pro					NLRP4_uc002qmf.2_Missense_Mutation_p.L866P|NLRP4_uc010etf.2_Missense_Mutation_p.L716P	p.L941P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	9	3244	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	941			LRR 7.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2822T>C	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.747506	0.49257	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.70869	2.02;-0.52	4.01	4.01	0.46588	.	.	.	.	.	D	0.88537	0.6463	H	0.97465	4.01	0.21897	N	0.99949	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.988	T	0.79801	-0.1650	9	0.87932	D	0	.	9.5237	0.39152	0.0:0.0:0.0:1.0	.	885;866;941	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	P	941;885	ENSP00000301295:L941P;ENSP00000344787:L885P	ENSP00000301295:L941P	L	+	2	0	NLRP4	61082097	0.012000	0.17670	0.005000	0.12908	0.134000	0.20937	1.351000	0.34022	1.803000	0.52742	0.528000	0.53228	CTC		PASS	0.582	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		4	95	4	95	---	---	---	---
ZIM2	23619	broad.mit.edu	37	19	57286711	57286711	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr19:57286711G>C	ENST00000391708.3	-	12	1471	c.929C>G	c.(928-930)aCt>aGt	p.T310S	AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.T310S|ZIM2_ENST00000593711.1_Missense_Mutation_p.T310S|ZIM2_ENST00000221722.5_Missense_Mutation_p.T310S|ZIM2_ENST00000601070.1_Missense_Mutation_p.T310S|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T310S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCCAGGAGCAGTGCCTTCCTG	0.448																																						uc002qnr.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(928-930)ACT>AGT		zinc finger, imprinted 2							132.0	124.0	127.0					19																	57286711		2203	4300	6503	SO:0001583	missense	23619				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57286711G>C	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.929C>G	19.37:g.57286711G>C	ENSP00000375589:p.Thr310Ser					uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.T106S|ZIM2_uc010ygr.1_Missense_Mutation_p.T106S|ZIM2_uc002qnq.2_Missense_Mutation_p.T310S|ZIM2_uc010etp.2_Missense_Mutation_p.T310S|ZIM2_uc010ygs.1_Missense_Mutation_p.T310S	p.T310S	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN		GBM - Glioblastoma multiforme(193;0.0314)	11	1311	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	310					Q2M3K1	Missense_Mutation	SNP	ENST00000391708.3	37	c.929C>G	CCDS33123.1	.	.	.	.	.	.	.	.	.	.	G	2.197	-0.383875	0.04966	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04119	3.7;3.7	3.89	0.495	0.16890	.	.	.	.	.	T	0.03095	0.0091	N	0.19112	0.55	.	.	.	B	0.15141	0.012	B	0.06405	0.002	T	0.34625	-0.9821	8	0.33141	T	0.24	.	5.6684	0.17709	0.1929:0.1637:0.6434:0.0	.	310	Q9NZV7	ZIM2_HUMAN	S	310	ENSP00000375589:T310S;ENSP00000221722:T310S	ENSP00000221722:T310S	T	-	2	0	ZIM2	61978523	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.056000	0.11787	0.211000	0.20683	0.655000	0.94253	ACT		PASS	0.448	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			18	89	18	89	---	---	---	---
SMOX	54498	broad.mit.edu	37	20	4163106	4163106	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr20:4163106A>T	ENST00000305958.4	+	5	1205	c.980A>T	c.(979-981)cAt>cTt	p.H327L	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.H327L|SMOX_ENST00000278795.3_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	327					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.H327L(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CCGGCGGACCATGTGATTGTG	0.642																																						uc002wkm.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(979-981)CAT>CTT		spermine oxidase isoform 1	Spermine(DB00127)						97.0	85.0	89.0					20																	4163106		2203	4300	6503	SO:0001583	missense	54498				polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	g.chr20:4163106A>T	AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.980A>T	20.37:g.4163106A>T	ENSP00000307252:p.His327Leu					SMOX_uc002wkk.1_Intron|SMOX_uc002wkl.1_Intron|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.H327L|SMOX_uc010zqo.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.H327L	p.H327L	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN			5	1181	+			327					A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	ENST00000305958.4	37	c.980A>T	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472140	0.84533	.	.	ENSG00000088826	ENST00000305958;ENST00000379460;ENST00000457205	D;D;D	0.92545	-3.06;-3.06;-3.06	5.64	5.64	0.86602	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.96364	0.8814	M	0.90542	3.125	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.67725	0.924;0.953	D	0.96905	0.9663	9	.	.	.	-25.9475	13.8523	0.63504	1.0:0.0:0.0:0.0	.	327;327	Q9NWM0-6;Q9NWM0	.;SMOX_HUMAN	L	327;327;184	ENSP00000307252:H327L;ENSP00000368773:H327L;ENSP00000407269:H184L	.	H	+	2	0	SMOX	4111106	1.000000	0.71417	0.996000	0.52242	0.846000	0.48090	9.334000	0.96470	2.166000	0.68216	0.456000	0.33151	CAT		PASS	0.642	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842		21	94	21	94	---	---	---	---
TASP1	55617	broad.mit.edu	37	20	13463980	13463980	+	Silent	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr20:13463980A>G	ENST00000337743.4	-	11	999	c.879T>C	c.(877-879)tgT>tgC	p.C293C	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Missense_Mutation_p.V96A	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	293					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)	p.C293C(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						GATGCTCTCCACATCCTAGAA	0.438																																						uc002woi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(877-879)TGT>TGC		taspase 1 precursor							132.0	120.0	124.0					20																	13463980		2203	4300	6503	SO:0001819	synonymous_variant	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13463980A>G	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.879T>C	20.37:g.13463980A>G						TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Silent_p.C270C|TASP1_uc010zrj.1_RNA	p.C293C	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN			11	996	-			293					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Silent	SNP	ENST00000337743.4	37	c.879T>C	CCDS13116.1	.	.	.	.	.	.	.	.	.	.	A	9.352	1.065791	0.20067	.	.	ENSG00000089123	ENST00000539805	.	.	.	5.72	4.62	0.57501	.	.	.	.	.	T	0.39306	0.1073	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13845	-1.0494	5	0.08381	T	0.77	-1.6675	11.1671	0.48550	0.9274:0.0:0.0726:0.0	.	.	.	.	A	96	.	ENSP00000444062:V96A	V	-	2	0	TASP1	13411980	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.900000	0.56295	2.299000	0.77371	0.528000	0.53228	GTG		PASS	0.438	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		16	83	16	83	---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20033180	20033180	+	Missense_Mutation	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr20:20033180T>A	ENST00000377340.2	-	2	321	c.290A>T	c.(289-291)cAg>cTg	p.Q97L	C20orf26_ENST00000245957.5_5'Flank|CRNKL1_ENST00000536226.1_5'Flank|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_5'Flank|C20orf26_ENST00000389656.3_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.Q85L	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	97					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q97L(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTGACCAGGCTGCGCGTCCTC	0.642																																						uc002wrs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(289-291)CAG>CTG		crooked neck-like 1 protein							60.0	56.0	57.0					20																	20033180		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20033180T>A	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.290A>T	20.37:g.20033180T>A	ENSP00000366557:p.Gln97Leu					C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.Q85L	p.Q97L	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			2	322	-			97					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.290A>T	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	T	6.220	0.408698	0.11812	.	.	ENSG00000101343	ENST00000377327;ENST00000377340	T;T	0.28454	1.61;1.61	4.93	1.38	0.22167	.	1.510190	0.04475	N	0.376737	T	0.16685	0.0401	N	0.08118	0	0.48236	D	0.999615	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.17684	-1.0361	10	0.87932	D	0	-0.3602	3.1783	0.06576	0.1737:0.1905:0.0:0.6358	.	85;97	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	L	85;97	ENSP00000366544:Q85L;ENSP00000366557:Q97L	ENSP00000366544:Q85L	Q	-	2	0	CRNKL1	19981180	0.000000	0.05858	0.227000	0.23927	0.155000	0.21991	-0.890000	0.04140	0.056000	0.16144	0.533000	0.62120	CAG		PASS	0.642	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			14	39	14	39	---	---	---	---
DEFB116	245930	broad.mit.edu	37	20	29891228	29891228	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr20:29891228C>A	ENST00000400549.1	-	2	95	c.96G>T	c.(94-96)aaG>aaT	p.K32N		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	32					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.K32N(1)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCTCTCGGCTCTTGCCATTGT	0.453																																						uc010ztm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)AAG>AAT		beta-defensin 116 precursor							149.0	133.0	138.0					20																	29891228		1911	4113	6024	SO:0001583	missense	245930				defense response to bacterium	extracellular region		g.chr20:29891228C>A	DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"""Defensins, beta"""	18097	protein-coding gene	gene with protein product	"""defensin, beta 16"""					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.96G>T	20.37:g.29891228C>A	ENSP00000383396:p.Lys32Asn						p.K32N	NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	96	-	all_hematologic(12;0.158)		32						Missense_Mutation	SNP	ENST00000400549.1	37	c.96G>T	CCDS42860.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117531	0.37339	.	.	ENSG00000215545	ENST00000400549	T	0.17054	2.3	3.23	0.101	0.14517	.	.	.	.	.	T	0.11410	0.0278	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.29852	-0.9998	9	0.66056	D	0.02	-16.206	5.3597	0.16081	0.0:0.4749:0.4059:0.1192	.	32	Q30KQ4	DB116_HUMAN	N	32	ENSP00000383396:K32N	ENSP00000383396:K32N	K	-	3	2	DEFB116	29354889	0.005000	0.15991	0.009000	0.14445	0.030000	0.12068	0.030000	0.13688	0.053000	0.16036	-0.140000	0.14226	AAG		PASS	0.453	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1	NM_001037731		24	137	24	137	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31023858	31023858	+	Missense_Mutation	SNP	A	A	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr20:31023858A>G	ENST00000375687.4	+	13	3767	c.3343A>G	c.(3343-3345)Agc>Ggc	p.S1115G	ASXL1_ENST00000306058.5_Missense_Mutation_p.S1110G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1115					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S1115G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GCTGCAGGGTAGCTTGCCCCT	0.567			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(3343-3345)AGC>GGC		additional sex combs like 1 isoform 1							89.0	77.0	81.0					20																	31023858		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023858A>G	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3343A>G	20.37:g.31023858A>G	ENSP00000364839:p.Ser1115Gly					ASXL1_uc010geb.2_Missense_Mutation_p.S1006G	p.S1115G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	3769	+			1115					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3343A>G	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	A	11.83	1.756283	0.31137	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.16743	2.32;2.32	4.32	0.761	0.18448	.	0.649114	0.16473	N	0.212884	T	0.15349	0.0370	L	0.53249	1.67	0.09310	N	1	B;B	0.17038	0.02;0.006	B;B	0.19148	0.024;0.014	T	0.19321	-1.0309	10	0.48119	T	0.1	0.1947	7.4013	0.26965	0.6564:0.271:0.0726:0.0	.	1110;1115	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	G	1115;1115;1115;1036;1110	ENSP00000364839:S1115G;ENSP00000305119:S1110G	ENSP00000305119:S1110G	S	+	1	0	ASXL1	30487519	0.919000	0.31177	0.015000	0.15790	0.600000	0.36913	4.452000	0.60054	0.090000	0.17273	0.459000	0.35465	AGC		PASS	0.567	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		21	96	21	96	---	---	---	---
EPPIN	57119	broad.mit.edu	37	20	44166708	44166708	+	IGR	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr20:44166708T>A	ENST00000354280.4	-	0	1987				EPPIN_ENST00000555685.1_Missense_Mutation_p.E139D|WFDC6_ENST00000600168.1_Missense_Mutation_p.E39D|EPPIN-WFDC6_ENST00000504988.1_Missense_Mutation_p.E139D|WFDC6_ENST00000372670.3_Missense_Mutation_p.E39D	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E39D(1)									CCACTTCGCATTCCACTTTGA	0.507																																						uc010zxc.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(415-417)GAA>GAT		serine peptidase inhibitor-like, with Kunitz and							210.0	194.0	199.0					20																	44166708		2203	4300	6503	SO:0001628	intergenic_variant	57119					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44166708T>A	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588		20.37:g.44166708T>A						WFDC6_uc002xos.1_Missense_Mutation_p.E39D	p.E139D	NM_020398	NP_065131	O95925	EPPI_HUMAN			4	449	-		Myeloproliferative disorder(115;0.0122)	39			WAP.		A6PVD6|Q86TP9|Q96SD7|Q9HD30	Missense_Mutation	SNP	ENST00000354280.4	37	c.417A>T	CCDS13359.1	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217999	0.39201	.	.	ENSG00000243543;ENSG00000243543;ENSG00000101448;ENSG00000249139	ENST00000372670;ENST00000372665;ENST00000555685;ENST00000504988	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	4.43	-2.52	0.06346	.	.	.	.	.	T	0.44095	0.1277	.	.	.	0.09310	N	1	B;B	0.22414	0.069;0.056	B;B	0.24541	0.054;0.043	T	0.30179	-0.9987	8	0.10636	T	0.68	.	4.5373	0.12040	0.1584:0.4154:0.0:0.4262	.	139;39	A6PVD6;Q9BQY6-2	.;.	D	39;39;139;139	ENSP00000361755:E39D;ENSP00000361750:E39D;ENSP00000452085:E139D;ENSP00000424176:E139D	ENSP00000424176:E139D	E	-	3	2	WFDC6;SPINLW1;SPINLW1-WFDC6	43600122	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	-0.472000	0.06623	-0.585000	0.05905	-0.376000	0.06991	GAA		PASS	0.507	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4			24	159	24	159	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47249075	47249075	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr20:47249075C>T	ENST00000371941.3	-	34	4392	c.4370G>A	c.(4369-4371)gGt>gAt	p.G1457D	PREX1_ENST00000396220.1_Missense_Mutation_p.G1457D	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1457					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1457D(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCTGGCCCCACCCTCCAGGCG	0.647																																						uc002xtw.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(4369-4371)GGT>GAT		phosphatidylinositol-3,4,							47.0	46.0	46.0					20																	47249075		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47249075C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4370G>A	20.37:g.47249075C>T	ENSP00000361009:p.Gly1457Asp					PREX1_uc002xtv.1_Missense_Mutation_p.G754D	p.G1457D	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		34	4393	-			1457					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.4370G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347368	0.41599	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.60672	0.17;0.21	4.53	2.3	0.28687	.	0.723259	0.11624	U	0.545518	T	0.34279	0.0892	N	0.08118	0	0.25607	N	0.986532	B;B	0.24721	0.0;0.11	B;B	0.29862	0.002;0.108	T	0.24476	-1.0159	10	0.41790	T	0.15	.	4.183	0.10385	0.0:0.4211:0.0:0.5789	.	1457;754	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	D	1457	ENSP00000361009:G1457D;ENSP00000379522:G1457D	ENSP00000361009:G1457D	G	-	2	0	PREX1	46682482	0.998000	0.40836	0.906000	0.35671	0.967000	0.64934	3.099000	0.50267	0.894000	0.36317	0.561000	0.74099	GGT		PASS	0.647	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		11	81	11	81	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51870385	51870385	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr20:51870385G>T	ENST00000371497.5	+	2	1275	c.388G>T	c.(388-390)Gcc>Tcc	p.A130S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A127S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A127S|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	130					multicellular organismal development (GO:0007275)|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.A130S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGCTGTCTACGCCAACATCCT	0.527																																						uc002xwo.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(388-390)GCC>TCC		teashirt zinc finger homeobox 2							80.0	71.0	74.0					20																	51870385		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870385G>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.388G>T	20.37:g.51870385G>T	ENSP00000360552:p.Ala130Ser						p.A130S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1344	+			130					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.388G>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564294	0.65651	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.16196	2.37;2.36	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.02933	-1.1092	10	0.26408	T	0.33	-24.2709	19.8272	0.96622	0.0:0.0:1.0:0.0	.	130	Q9NRE2	TSH2_HUMAN	S	130;127	ENSP00000360552:A130S;ENSP00000333114:A127S	ENSP00000333114:A127S	A	+	1	0	TSHZ2	51303792	1.000000	0.71417	0.996000	0.52242	0.789000	0.44602	9.470000	0.97683	2.685000	0.91497	0.643000	0.83706	GCC		PASS	0.527	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		12	66	12	66	---	---	---	---
CASS4	57091	broad.mit.edu	37	20	55027803	55027803	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr20:55027803C>A	ENST00000360314.3	+	6	1796	c.1571C>A	c.(1570-1572)tCc>tAc	p.S524Y	CASS4_ENST00000371336.3_Missense_Mutation_p.S524Y|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	524					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.S524Y(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CAGACCATCTCCAACTCCTAC	0.488																																						uc002xxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1570-1572)TCC>TAC		HEF-like protein isoform a							79.0	76.0	77.0					20																	55027803		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027803C>A	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1571C>A	20.37:g.55027803C>A	ENSP00000353462:p.Ser524Tyr					CASS4_uc002xxq.3_Missense_Mutation_p.S524Y|CASS4_uc002xxr.2_Missense_Mutation_p.S524Y|CASS4_uc010zze.1_Missense_Mutation_p.S470Y|CASS4_uc010gio.2_Intron	p.S524Y	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN			6	1796	+			524					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.1571C>A	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471187	0.63625	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.23950	1.88;1.88	5.78	5.78	0.91487	Serine rich protein interaction (1);	0.405411	0.27455	N	0.019299	T	0.45276	0.1334	M	0.65975	2.015	0.33555	D	0.596675	D;D;D	0.71674	0.991;0.998;0.995	P;D;D	0.65443	0.873;0.935;0.934	T	0.58814	-0.7570	10	0.62326	D	0.03	-22.5369	10.4443	0.44483	0.0:0.8512:0.0:0.1488	.	470;524;524	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	Y	524	ENSP00000353462:S524Y;ENSP00000360387:S524Y	ENSP00000353462:S524Y	S	+	2	0	CASS4	54461210	0.137000	0.22531	0.998000	0.56505	0.876000	0.50452	1.363000	0.34159	2.894000	0.99253	0.591000	0.81541	TCC		PASS	0.488	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356		12	59	12	59	---	---	---	---
ARFGAP1	55738	broad.mit.edu	37	20	61907487	61907487	+	Silent	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr20:61907487G>A	ENST00000370283.4	+	3	245	c.105G>A	c.(103-105)gtG>gtA	p.V35V	ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370275.4_Silent_p.V35V|ARFGAP1_ENST00000353546.3_Silent_p.V35V|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000547204.1_Intron	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	35	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)	p.V35V(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GGGTCAGTGTGACCTACGGCA	0.627																																						uc002yem.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(103-105)GTG>GTA		ADP-ribosylation factor GTPase activating							150.0	135.0	140.0					20																	61907487		2203	4300	6503	SO:0001819	synonymous_variant	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61907487G>A	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.105G>A	20.37:g.61907487G>A						ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Silent_p.V35V|ARFGAP1_uc002yen.2_Silent_p.V35V	p.V35V	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN			3	217	+	all_cancers(38;1.59e-09)		35			C4-type.|Arf-GAP.		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Silent	SNP	ENST00000370283.4	37	c.105G>A	CCDS13515.1																																																																																				PASS	0.627	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		43	188	43	188	---	---	---	---
HIRA	7290	broad.mit.edu	37	22	19384472	19384472	+	Splice_Site	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr22:19384472T>C	ENST00000263208.5	-	7	750		c.e7-2		HIRA_ENST00000541063.1_Splice_Site|HIRA_ENST00000546308.1_Splice_Site|HIRA_ENST00000464189.1_5'Flank|HIRA_ENST00000340170.4_Splice_Site	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator						anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.?(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTAGAATTTCTGTGAAGAAAA	0.488																																						uc002zpf.1																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e7-1		HIR histone cell cycle regulation defective							54.0	54.0	54.0					22																	19384472		2203	4300	6503	SO:0001630	splice_region_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19384472T>C	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.494-2A>G	22.37:g.19384472T>C						HIRA_uc011agx.1_Splice_Site_p.E31_splice|HIRA_uc010grn.1_Splice_Site_p.E165_splice|HIRA_uc010gro.1_Splice_Site_p.E121_splice|HIRA_uc010grp.2_Splice_Site	p.E165_splice	NM_003325	NP_003316	P54198	HIRA_HUMAN			7	714	-	Colorectal(54;0.0993)							Q05BU9|Q8IXN2	Splice_Site	SNP	ENST00000263208.5	37	c.494_splice	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.544136	0.86022	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5825	0.76455	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HIRA	17764472	1.000000	0.71417	0.947000	0.38551	0.953000	0.61014	7.318000	0.79029	2.263000	0.75096	0.533000	0.62120	.		PASS	0.488	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325	Intron	9	49	9	49	---	---	---	---
ASCC2	84164	broad.mit.edu	37	22	30198081	30198081	+	Silent	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr22:30198081G>A	ENST00000397771.2	-	15	1647	c.1470C>T	c.(1468-1470)tgC>tgT	p.C490C	ASCC2_ENST00000542393.1_Silent_p.C414C|ASCC2_ENST00000307790.3_Silent_p.C490C			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	490	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.C490C(1)		endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AGTACTCCAGGCAGGCCAGGA	0.612																																						uc003agr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1468-1470)TGC>TGT		activating signal cointegrator 1 complex subunit							64.0	55.0	58.0					22																	30198081		2203	4300	6503	SO:0001819	synonymous_variant	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30198081G>A	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1470C>T	22.37:g.30198081G>A						ASCC2_uc003ags.2_Intron|ASCC2_uc003agt.2_Silent_p.C490C|ASCC2_uc011akr.1_Silent_p.C414C	p.C490C	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		14	1575	-			490			CUE.		B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Silent	SNP	ENST00000397771.2	37	c.1470C>T	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788429	0.49997	.	.	ENSG00000100325	ENST00000411532	T	0.37235	1.21	5.64	4.62	0.57501	.	.	.	.	.	T	0.38719	0.1051	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12268	-1.0554	6	0.27082	T	0.32	-22.4278	9.8761	0.41205	0.1527:0.0:0.8473:0.0	.	.	.	.	V	4	ENSP00000414545:A4V	ENSP00000414545:A4V	A	-	2	0	ASCC2	28528081	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	2.139000	0.42149	1.612000	0.50221	0.650000	0.86243	GCC		PASS	0.612	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		11	52	11	52	---	---	---	---
BPIFC	254240	broad.mit.edu	37	22	32810391	32810391	+	Missense_Mutation	SNP	C	C	A	rs553857767		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr22:32810391C>A	ENST00000397452.1	-	16	1533	c.1423G>T	c.(1423-1425)Gac>Tac	p.D475Y	BPIFC_ENST00000300399.3_Missense_Mutation_p.D475Y|BPIFC_ENST00000534972.1_Missense_Mutation_p.D199Y|RTCB_ENST00000451746.2_5'Flank|BPIFC_ENST00000432451.2_Missense_Mutation_p.D232Y|RTCB_ENST00000216038.5_5'Flank			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	475						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.D475Y(1)									TACTTCAGGTCGGTGGAAATC	0.493																																						uc003amn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1423-1425)GAC>TAC		bactericidal/permeability-increasing							136.0	117.0	124.0					22																	32810391		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32810391C>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1423G>T	22.37:g.32810391C>A	ENSP00000380594:p.Asp475Tyr					C22orf28_uc003amm.2_5'Flank|C22orf28_uc011ama.1_5'Flank|BPIL2_uc010gwo.2_Missense_Mutation_p.D232Y|BPIL2_uc011amb.1_Missense_Mutation_p.D199Y	p.D475Y	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			15	1423	-			475					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.1423G>T	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787152	0.70337	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.39	4.37	0.52481	.	0.049873	0.85682	D	0.000000	T	0.38878	0.1057	M	0.85462	2.755	0.45580	D	0.998528	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.34800	-0.9814	10	0.87932	D	0	-22.2598	10.4185	0.44335	0.0:0.9094:0.0:0.0906	.	232;475	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	Y	475;475;199;232	ENSP00000380594:D475Y;ENSP00000300399:D475Y;ENSP00000439123:D199Y;ENSP00000408920:D232Y	ENSP00000300399:D475Y	D	-	1	0	BPIFC	31140391	0.898000	0.30612	0.932000	0.37286	0.985000	0.73830	1.558000	0.36309	1.417000	0.47077	0.563000	0.77884	GAC		PASS	0.493	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		7	93	7	93	---	---	---	---
ENTHD1	150350	broad.mit.edu	37	22	40161370	40161370	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr22:40161370C>A	ENST00000325157.6	-	6	1327	c.1077G>T	c.(1075-1077)caG>caT	p.Q359H		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	359								p.Q359H(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CTACAGAGGCCTGGTTATGGA	0.408																																						uc003ayg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1075-1077)CAG>CAT		ENTH domain containing 1							136.0	128.0	130.0					22																	40161370		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40161370C>A	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1077G>T	22.37:g.40161370C>A	ENSP00000317431:p.Gln359His						p.Q359H	NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN			6	1328	-	Melanoma(58;0.0749)		359					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.1077G>T	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439384	0.63067	.	.	ENSG00000176177	ENST00000325157	T	0.64085	-0.08	5.91	1.53	0.23141	.	0.123107	0.38959	N	0.001505	T	0.65123	0.2661	L	0.34521	1.04	0.32676	N	0.516212	D	0.89917	1.0	D	0.87578	0.998	T	0.69120	-0.5229	10	0.66056	D	0.02	-14.1463	8.0308	0.30463	0.0:0.6789:0.0:0.3211	.	359	Q8IYW4	ENTD1_HUMAN	H	359	ENSP00000317431:Q359H	ENSP00000317431:Q359H	Q	-	3	2	ENTHD1	38491316	0.958000	0.32768	0.996000	0.52242	0.974000	0.67602	0.015000	0.13355	0.123000	0.18342	0.655000	0.94253	CAG		PASS	0.408	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		17	130	17	130	---	---	---	---
PNPLA5	150379	broad.mit.edu	37	22	44280221	44280221	+	Silent	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr22:44280221C>G	ENST00000597664.1	-	7	1083	c.954G>C	c.(952-954)ctG>ctC	p.L318L	PNPLA5_ENST00000216177.4_Silent_p.L318L|PNPLA5_ENST00000381198.2_Silent_p.L204L|PNPLA5_ENST00000593866.1_Silent_p.L204L			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	318					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.L318L(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ATGCTTTCTTCAGTGCTGCAA	0.627											OREG0026622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003beg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(952-954)CTG>CTC		patatin-like phospholipase domain containing 5							72.0	71.0	72.0					22																	44280221		2203	4300	6503	SO:0001819	synonymous_variant	150379				lipid catabolic process		hydrolase activity	g.chr22:44280221C>G	Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.954G>C	22.37:g.44280221C>G			OREG0026622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	PNPLA5_uc011aqc.1_Silent_p.L178L|PNPLA5_uc003beh.2_Silent_p.L204L	p.L318L	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN			7	1051	-		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	318					B1AHL8|B3KPR1|Q6ZST0	Silent	SNP	ENST00000597664.1	37	c.954G>C																																																																																					PASS	0.627	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000075667.4	NM_138814		23	131	23	131	---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50901147	50901147	+	Splice_Site	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr22:50901147C>A	ENST00000390679.3	-	18	2153		c.e18-1		SBF1_ENST00000348911.6_Splice_Site|SBF1_ENST00000380817.3_Splice_Site			O95248	MTMR5_HUMAN	SET binding factor 1						cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.?(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCTCAGCTTCTGCAGGAGCC	0.637																																						uc003blh.2																			2	Unknown(2)		lung(2)		0						c.e18-1		SET binding factor 1							16.0	19.0	18.0					22																	50901147		2029	4166	6195	SO:0001630	splice_region_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50901147C>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1969-1G>T	22.37:g.50901147C>A						SBF1_uc011arx.1_Splice_Site_p.K321_splice|SBF1_uc003bli.2_Splice_Site_p.K658_splice	p.K657_splice	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	18	2164	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)						A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Splice_Site	SNP	ENST00000390679.3	37	c.1969_splice		.	.	.	.	.	.	.	.	.	.	C	18.18	3.567299	0.65651	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	.	.	.	4.79	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6842	0.56938	0.0:0.9188:0.0:0.0812	.	.	.	.	.	-1	.	.	.	-	.	.	SBF1	49248013	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.620000	0.61226	1.237000	0.43756	0.561000	0.74099	.		PASS	0.637	SBF1-201	KNOWN	basic	protein_coding	protein_coding			Intron	3	25	3	25	---	---	---	---
NCAPH2	29781	broad.mit.edu	37	22	50961585	50961585	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chr22:50961585C>T	ENST00000420993.2	+	19	1789	c.1667C>T	c.(1666-1668)tCc>tTc	p.S556F	NCAPH2_ENST00000299821.11_Missense_Mutation_p.S557F|CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000395701.3_Missense_Mutation_p.S556F	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	556					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.S556F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		ATGCTGGCCTCCCTGCAGCTG	0.637																																						uc003blr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1666-1668)TCC>TTC		kleisin beta isoform 2							57.0	54.0	55.0					22																	50961585		2202	4299	6501	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50961585C>T	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1667C>T	22.37:g.50961585C>T	ENSP00000410088:p.Ser556Phe					NCAPH2_uc003blv.2_Missense_Mutation_p.S556F|NCAPH2_uc010hbb.2_Intron|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.S557F|NCAPH2_uc003bly.3_RNA	p.S556F	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	19	1789	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	556					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.1667C>T	CCDS14094.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.469157|4.469157	0.84533|0.84533	.|.	.|.	ENSG00000025770|ENSG00000025770	ENST00000522304|ENST00000420993;ENST00000395701;ENST00000299821	.|.	.|.	.|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.129025	.|0.53938	.|D	.|0.000048	T|T	0.79621|0.79621	0.4477|0.4477	M|M	0.78801|0.78801	2.425|2.425	0.52099|0.52099	D|D	0.999941|0.999941	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.998;0.999	T|T	0.82196|0.82196	-0.0577|-0.0577	5|9	.|0.62326	.|D	.|0.03	-27.8458|-27.8458	16.7947|16.7947	0.85598|0.85598	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|557;534;556	.|Q6IBW4-4;Q6IBW4-2;Q6IBW4	.|.;.;CNDH2_HUMAN	S|F	92|556;556;557	.|.	.|ENSP00000299821:S557F	P|S	+|+	1|2	0|0	NCAPH2|NCAPH2	49308451|49308451	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	6.926000|6.926000	0.75835|0.75835	2.393000|2.393000	0.81446|0.81446	0.561000|0.561000	0.74099|0.74099	CCC|TCC		PASS	0.637	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		4	39	4	39	---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12736381	12736381	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:12736381C>G	ENST00000380682.1	+	16	3942	c.3436C>G	c.(3436-3438)Caa>Gaa	p.Q1146E		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1146					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.Q1136E(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGACTTGGTCAAGGGGACCG	0.537																																						uc004cuz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(3436-3438)CAA>GAA		FERM and PDZ domain containing 4							178.0	166.0	170.0					X																	12736381		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736381C>G	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3436C>G	X.37:g.12736381C>G	ENSP00000370057:p.Gln1146Glu					FRMPD4_uc011mij.1_Missense_Mutation_p.Q1138E	p.Q1146E	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			16	3942	+			1146					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.3436C>G	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.655999	0.29425	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05925	3.37	5.4	5.4	0.78164	.	0.131334	0.50627	D	0.000113	T	0.10637	0.0260	M	0.70595	2.14	0.31866	N	0.620387	P;P	0.45348	0.856;0.77	B;B	0.36608	0.229;0.137	T	0.07868	-1.0750	10	0.45353	T	0.12	-6.5026	18.2551	0.90017	0.0:1.0:0.0:0.0	.	1138;1146	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	E	1146;1137;1135	ENSP00000370057:Q1146E	ENSP00000304583:Q1135E	Q	+	1	0	FRMPD4	12646302	0.999000	0.42202	0.993000	0.49108	0.873000	0.50193	1.962000	0.40442	2.250000	0.74265	0.600000	0.82982	CAA		PASS	0.537	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		40	345	40	345	---	---	---	---
GLRA2	2742	broad.mit.edu	37	X	14550468	14550468	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:14550468A>T	ENST00000218075.4	+	2	706	c.176A>T	c.(175-177)gAt>gTt	p.D59V	GLRA2_ENST00000443437.2_De_novo_Start_OutOfFrame|GLRA2_ENST00000355020.4_Missense_Mutation_p.D59V	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	59					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.D59V(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TCAGGATATGATGCAAGAATC	0.378																																						uc010nep.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(175-177)GAT>GTT		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						116.0	113.0	114.0					X																	14550468		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14550468A>T		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.176A>T	X.37:g.14550468A>T	ENSP00000218075:p.Asp59Val					GLRA2_uc010neq.2_Missense_Mutation_p.D59V|GLRA2_uc004cwe.3_Missense_Mutation_p.D59V|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_Missense_Mutation_p.D37V	p.D59V	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			3	508	+	Hepatocellular(33;0.128)		59			Extracellular (Probable).		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.176A>T	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928673	0.73327	.	.	ENSG00000101958	ENST00000218075;ENST00000355020;ENST00000415367	T;T;T	0.81415	-1.49;-1.49;-1.49	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.051850	0.85682	D	0.000000	D	0.90916	0.7145	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.997;0.996	D	0.92605	0.6094	10	0.87932	D	0	.	13.2275	0.59922	1.0:0.0:0.0:0.0	.	43;59;59	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	V	59;59;43	ENSP00000218075:D59V;ENSP00000347123:D59V;ENSP00000391606:D43V	ENSP00000218075:D59V	D	+	2	0	GLRA2	14460389	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.376000	0.90138	1.785000	0.52413	0.481000	0.45027	GAT		PASS	0.378	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			10	113	10	113	---	---	---	---
BMX	660	broad.mit.edu	37	X	15526551	15526551	+	Silent	SNP	T	T	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:15526551T>C	ENST00000357607.2	+	2	263	c.75T>C	c.(73-75)aaT>aaC	p.N25N	BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Silent_p.N25N|BMX_ENST00000342014.6_Silent_p.N25N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	25	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.N25N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CACCAAATAATTACAAAGAAC	0.279																																						uc004cww.2																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)	5						c.(73-75)AAT>AAC		BMX non-receptor tyrosine kinase							43.0	45.0	44.0					X																	15526551		2203	4284	6487	SO:0001819	synonymous_variant	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15526551T>C	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.75T>C	X.37:g.15526551T>C						BMX_uc004cwx.3_Silent_p.N25N|BMX_uc004cwy.3_Silent_p.N25N	p.N25N	NM_203281	NP_975010	P51813	BMX_HUMAN			2	263	+	Hepatocellular(33;0.183)		25			PH.		A6NIH9|O60564|Q12871	Silent	SNP	ENST00000357607.2	37	c.75T>C	CCDS14168.1																																																																																				PASS	0.279	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		6	62	6	62	---	---	---	---
PTCHD1	139411	broad.mit.edu	37	X	23398078	23398078	+	Missense_Mutation	SNP	A	A	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:23398078A>T	ENST00000379361.4	+	2	1582	c.722A>T	c.(721-723)cAg>cTg	p.Q241L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	241					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.Q241L(1)|p.Q136L(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGACTGTTTCAGAAATCCAAC	0.507																																						uc004dal.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|kidney(1)|skin(1)	6						c.(721-723)CAG>CTG		patched domain containing 1							234.0	215.0	221.0					X																	23398078		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398078A>T	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.722A>T	X.37:g.23398078A>T	ENSP00000368666:p.Gln241Leu					PTCHD1_uc010nfu.1_Missense_Mutation_p.Q241L	p.Q241L	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			2	730	+			241					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.722A>T	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	A	12.40	1.926165	0.34002	.	.	ENSG00000165186	ENST00000379361	D	0.85484	-1.99	4.86	4.86	0.63082	.	0.177506	0.50627	D	0.000113	D	0.82356	0.5019	L	0.34521	1.04	0.35635	D	0.810483	P;B	0.38440	0.631;0.014	P;B	0.46076	0.503;0.063	D	0.84662	0.0707	10	0.29301	T	0.29	-9.3541	13.8052	0.63225	1.0:0.0:0.0:0.0	.	136;241	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	L	241	ENSP00000368666:Q241L	ENSP00000368666:Q241L	Q	+	2	0	PTCHD1	23307999	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.174000	0.58256	1.903000	0.55091	0.486000	0.48141	CAG		PASS	0.507	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		34	340	34	340	---	---	---	---
MAGEB16	139604	broad.mit.edu	37	X	35820883	35820883	+	Nonsense_Mutation	SNP	T	T	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:35820883T>A	ENST00000399989.1	+	2	849	c.570T>A	c.(568-570)taT>taA	p.Y190*	MAGEB16_ENST00000399987.1_Nonsense_Mutation_p.Y190*|MAGEB16_ENST00000399985.1_Nonsense_Mutation_p.Y190*|MAGEB16_ENST00000399992.1_Nonsense_Mutation_p.Y222*|MAGEB16_ENST00000399988.1_Nonsense_Mutation_p.Y190*	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	190	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.Y357*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GCCTCACCTATGATGGGATGC	0.532																																						uc010ngt.1																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(568-570)TAT>TAA		melanoma antigen family B, 16							94.0	91.0	92.0					X																	35820883		2179	4280	6459	SO:0001587	stop_gained	139604							g.chrX:35820883T>A		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.570T>A	X.37:g.35820883T>A	ENSP00000382871:p.Tyr190*						p.Y190*	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN			2	849	+			190			MAGE.		A8MU30	Nonsense_Mutation	SNP	ENST00000399989.1	37	c.570T>A	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.243991	0.58995	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	.	.	.	3.13	-0.729	0.11158	.	0.611206	0.16339	N	0.218768	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9582	0.19286	0.0:0.5215:0.0:0.4785	.	.	.	.	X	190;222;190;190;190	.	ENSP00000382867:Y190X	Y	+	3	2	MAGEB16	35730804	0.074000	0.21230	0.943000	0.38184	0.262000	0.26303	-0.718000	0.04980	-0.223000	0.09943	0.423000	0.28283	TAT		PASS	0.532	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			9	91	9	91	---	---	---	---
CYBB	1536	broad.mit.edu	37	X	37658245	37658245	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:37658245G>T	ENST00000378588.4	+	7	779	c.712G>T	c.(712-714)Gtg>Ttg	p.V238L	CYBB_ENST00000545017.1_Missense_Mutation_p.V206L|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000492288.1_3'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	238	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.V238L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GAGTTTGGCTGTGCATAATAT	0.373																																						uc004ddr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(712-714)GTG>TTG		cytochrome b-245 beta polypeptide							78.0	75.0	76.0					X																	37658245		2201	4300	6501	SO:0001583	missense	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:37658245G>T	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.712G>T	X.37:g.37658245G>T	ENSP00000367851:p.Val238Leu					CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.V206L|CYBB_uc011mkg.1_5'UTR	p.V238L	NM_000397	NP_000388	P04839	CY24B_HUMAN			7	773	+			238			Extracellular (Potential).|Ferric oxidoreductase.		A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.712G>T	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	G	5.699	0.313474	0.10789	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	D;D	0.95412	-3.67;-3.7	5.15	-5.69	0.02428	.	1.233380	0.05166	N	0.498650	T	0.80374	0.4611	N	0.00496	-1.435	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.75673	-0.3236	10	0.10111	T	0.7	.	8.645	0.34000	0.4594:0.1693:0.3713:0.0	.	206;238	F5GWD2;P04839	.;CY24B_HUMAN	L	238;206	ENSP00000367851:V238L;ENSP00000441896:V206L	ENSP00000367851:V238L	V	+	1	0	CYBB	37543185	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.496000	0.02291	-3.031000	0.00266	-3.195000	0.00055	GTG		PASS	0.373	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			5	38	5	38	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38024093	38024093	+	Silent	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:38024093G>C	ENST00000378533.3	-	5	688	c.582C>G	c.(580-582)ccC>ccG	p.P194P	SRPX_ENST00000544439.1_Silent_p.P174P|SRPX_ENST00000343800.6_Silent_p.P181P|SRPX_ENST00000538295.1_Silent_p.P194P|SRPX_ENST00000432886.2_Silent_p.P135P|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	194	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.P194P(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TCAGTTTGTTGGGTTCTGCAA	0.423																																						uc004ddy.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(580-582)CCC>CCG		sushi-repeat-containing protein, X-linked							153.0	131.0	139.0					X																	38024093		2202	4300	6502	SO:0001819	synonymous_variant	8406				cell adhesion	cell surface|membrane		g.chrX:38024093G>C	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.582C>G	X.37:g.38024093G>C						SRPX_uc004ddz.1_Silent_p.P174P|SRPX_uc011mkh.1_Silent_p.P135P|SRPX_uc011mki.1_Silent_p.P194P	p.P194P	NM_006307	NP_006298	P78539	SRPX_HUMAN			5	668	-			194			HYR.		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	ENST00000378533.3	37	c.582C>G	CCDS14245.1																																																																																				PASS	0.423	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		9	59	9	59	---	---	---	---
OTC	5009	broad.mit.edu	37	X	38229091	38229091	+	Missense_Mutation	SNP	G	G	A	rs72554338		TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:38229091G>A	ENST00000039007.4	+	3	411	c.259G>A	c.(259-261)Gag>Aag	p.E87K	OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	87			E -> K (in OTCD).		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)	p.E87K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	CATGATTTTTGAGAAAAGAAG	0.328																																						uc004def.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2	GRCh37	CM920534	OTC	M	rs72554338	c.(259-261)GAG>AAG		ornithine carbamoyltransferase precursor	L-Citrulline(DB00155)|L-Ornithine(DB00129)						76.0	69.0	71.0					X																	38229091		2202	4300	6502	SO:0001583	missense	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38229091G>A	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.259G>A	X.37:g.38229091G>A	ENSP00000039007:p.Glu87Lys						p.E87K	NM_000531	NP_000522	P00480	OTC_HUMAN			3	473	+			87		E -> K (in OTCD).			A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	c.259G>A	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081136	0.94050	.	.	ENSG00000036473	ENST00000039007	D	0.99098	-5.42	6.03	6.03	0.97812	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	M	0.91038	3.17	0.58432	A	0.999994	D	0.53462	0.96	P	0.52109	0.69	D	0.99544	1.0964	9	0.72032	D	0.01	-0.2896	18.1133	0.89542	0.0:0.0:1.0:0.0	.	87	P00480	OTC_HUMAN	K	87	ENSP00000039007:E87K	ENSP00000039007:E87K	E	+	1	0	OTC	38114035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.392000	0.79840	2.555000	0.86185	0.591000	0.81541	GAG		PASS	0.328	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2			10	64	10	64	---	---	---	---
AKAP4	8852	broad.mit.edu	37	X	49955710	49955710	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:49955710C>A	ENST00000376056.2	-	6	2581	c.2431G>T	c.(2431-2433)Ggt>Tgt	p.G811C	AKAP4_ENST00000376064.3_Missense_Mutation_p.G811C|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.G437C|AKAP4_ENST00000358526.2_Missense_Mutation_p.G820C					A kinase (PRKA) anchor protein 4									p.G820C(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TGAAGAAGACCTCCTACACTG	0.507																																						uc004dow.1																			1	Substitution - Missense(1)		lung(1)	kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(2458-2460)GGT>TGT		A-kinase anchor protein 4 isoform 1							236.0	191.0	206.0					X																	49955710		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49955710C>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2431G>T	X.37:g.49955710C>A	ENSP00000365224:p.Gly811Cys					AKAP4_uc004dov.1_Missense_Mutation_p.G437C|AKAP4_uc010njp.1_Missense_Mutation_p.G642C|AKAP4_uc004dou.1_Missense_Mutation_p.G811C	p.G820C	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			6	2582	-	Ovarian(276;0.236)		820						Missense_Mutation	SNP	ENST00000376056.2	37	c.2458G>T	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700360	0.68501	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	4.61	4.61	0.57282	A-kinase anchor 110kDa, C-terminal (1);	0.113719	0.38492	N	0.001670	T	0.14743	0.0356	N	0.22421	0.69	0.27959	N	0.936831	D;D	0.76494	0.975;0.999	P;D	0.73380	0.756;0.98	T	0.05835	-1.0861	9	.	.	.	-8.3524	12.1349	0.53966	0.0:1.0:0.0:0.0	.	820;437	Q5JQC9;A6ND82	AKAP4_HUMAN;.	C	811;437;820;811	ENSP00000365224:G811C;ENSP00000365226:G437C;ENSP00000351327:G820C;ENSP00000365232:G811C	.	G	-	1	0	AKAP4	49842450	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.771000	0.47670	1.907000	0.55213	0.523000	0.50628	GGT		PASS	0.507	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		35	194	35	194	---	---	---	---
FAM120C	54954	broad.mit.edu	37	X	54107770	54107770	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:54107770C>T	ENST00000375180.2	-	14	3019	c.2963G>A	c.(2962-2964)gGt>gAt	p.G988D	FAM120C_ENST00000328235.4_Missense_Mutation_p.V851M	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	988							poly(A) RNA binding (GO:0044822)	p.G988D(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCCTGGCCCACCGACAGAAAC	0.537																																						uc004dsz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2962-2964)GGT>GAT		hypothetical protein LOC54954							87.0	75.0	79.0					X																	54107770		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54107770C>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2963G>A	X.37:g.54107770C>T	ENSP00000364324:p.Gly988Asp					FAM120C_uc011moh.1_Missense_Mutation_p.V851M	p.G988D	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			14	3046	-			988					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.2963G>A	CCDS14356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.574350|4.574350	0.86542|0.86542	.|.	.|.	ENSG00000184083|ENSG00000184083	ENST00000375180|ENST00000328235	T|T	0.39997|0.31247	1.05|1.5	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	0.058830|.	0.64402|.	D|.	0.000002|.	T|T	0.40815|0.40815	0.1132|0.1132	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D|B	0.89917|0.33857	1.0|0.429	D|B	0.85130|0.40228	0.997|0.323	T|T	0.44742|0.44742	-0.9308|-0.9308	10|9	0.72032|0.87932	D|D	0.01|0	-8.32|-8.32	16.212|16.212	0.82168|0.82168	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	988|851	Q9NX05|F8W881	F120C_HUMAN|.	D|M	988|851	ENSP00000364324:G988D|ENSP00000329896:V851M	ENSP00000364324:G988D|ENSP00000329896:V851M	G|V	-|-	2|1	0|0	FAM120C|FAM120C	54124495|54124495	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.622000|5.622000	0.67750|0.67750	2.167000|2.167000	0.68274|0.68274	0.513000|0.513000	0.50165|0.50165	GGT|GTG		PASS	0.537	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		6	139	6	139	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54786271	54786271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:54786271C>T	ENST00000218436.6	-	7	1022	c.993G>A	c.(991-993)tgG>tgA	p.W331*		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	331	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.W331*(1)									CTCCAGCTTTCCAAACATTAA	0.468																																						uc004dtj.2																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(991-993)TGG>TGA		inter-alpha (globulin) inhibitor H5-like							164.0	123.0	137.0					X																	54786271		2203	4300	6503	SO:0001587	stop_gained	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54786271C>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.993G>A	X.37:g.54786271C>T	ENSP00000218436:p.Trp331*						p.W331*	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			7	1023	-			331			VWFA.		A6NN03	Nonsense_Mutation	SNP	ENST00000218436.6	37	c.993G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	c	16.01	3.000630	0.54254	.	.	ENSG00000102313	ENST00000218436	.	.	.	4.15	4.15	0.48705	.	0.154508	0.46758	U	0.000265	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.565	0.68168	0.0:1.0:0.0:0.0	.	.	.	.	X	331	.	ENSP00000218436:W331X	W	-	3	0	ITIH5L	54802996	1.000000	0.71417	0.842000	0.33263	0.007000	0.05969	6.411000	0.73298	1.656000	0.50722	0.600000	0.82982	TGG		PASS	0.468	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		15	66	15	66	---	---	---	---
ITIH6	347365	broad.mit.edu	37	X	54800576	54800576	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:54800576C>G	ENST00000218436.6	-	6	870	c.841G>C	c.(841-843)Gag>Cag	p.E281Q		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	281					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E281Q(1)									ACATTCTTCTCCATAGGTGGA	0.393																																						uc004dtj.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(841-843)GAG>CAG		inter-alpha (globulin) inhibitor H5-like							66.0	51.0	56.0					X																	54800576		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54800576C>G	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.841G>C	X.37:g.54800576C>G	ENSP00000218436:p.Glu281Gln						p.E281Q	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			6	871	-			281					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.841G>C	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	c	2.318	-0.356290	0.05138	.	.	ENSG00000102313	ENST00000218436	T	0.02280	4.36	4.15	-0.322	0.12713	von Willebrand factor, type A (1);	0.480681	0.19333	U	0.116846	T	0.01523	0.0049	N	0.17764	0.52	0.22317	N	0.999205	B	0.16166	0.016	B	0.21546	0.035	T	0.46345	-0.9198	10	0.30854	T	0.27	.	4.8149	0.13362	0.0:0.3116:0.3192:0.3692	.	281	Q6UXX5	ITH5L_HUMAN	Q	281	ENSP00000218436:E281Q	ENSP00000218436:E281Q	E	-	1	0	ITIH5L	54817301	0.056000	0.20664	0.000000	0.03702	0.223000	0.24884	1.929000	0.40114	-0.004000	0.14419	0.422000	0.28245	GAG		PASS	0.393	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		10	35	10	35	---	---	---	---
ARHGEF9	23229	broad.mit.edu	37	X	62974188	62974188	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:62974188G>T	ENST00000253401.6	-	1	805	c.5C>A	c.(4-6)aCg>aAg	p.T2K	ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000374872.1_Intron|ARHGEF9_ENST00000374870.4_Intron|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Intron	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	2					apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T2K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						ATATACCAACGTCATACATAT	0.418																																						uc004dvl.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	8						c.(4-6)ACG>AAG		Cdc42 guanine exchange factor 9							124.0	98.0	107.0					X																	62974188		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62974188G>T	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.5C>A	X.37:g.62974188G>T	ENSP00000253401:p.Thr2Lys					ARHGEF9_uc004dvj.1_Intron|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_Intron|ARHGEF9_uc004dvm.1_Intron|ARHGEF9_uc011mot.1_Intron|ARHGEF9_uc004dvn.2_Intron	p.T2K	NM_015185	NP_056000	O43307	ARHG9_HUMAN			1	844	-			2					A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.5C>A	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139149	0.37728	.	.	ENSG00000131089	ENST00000253401	T	0.71103	-0.54	5.42	5.42	0.78866	.	987.350000	0.00628	U	0.000473	T	0.75250	0.3824	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	T	0.64381	-0.6421	10	0.27082	T	0.32	.	16.7121	0.85388	0.0:0.0:1.0:0.0	.	2	O43307	ARHG9_HUMAN	K	2	ENSP00000253401:T2K	ENSP00000253401:T2K	T	-	2	0	ARHGEF9	62890913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.330000	0.90019	2.256000	0.74724	0.529000	0.55759	ACG		PASS	0.418	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			8	56	8	56	---	---	---	---
MTMR8	55613	broad.mit.edu	37	X	63548673	63548673	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:63548673C>A	ENST00000374852.3	-	12	1527	c.1460G>T	c.(1459-1461)aGt>aTt	p.S487I	MTMR8_ENST00000478487.1_5'Flank|MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	487	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)|p.S487I(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGGCACAGTACTAGGATTGAG	0.453																																						uc004dvs.2																			2	Substitution - Missense(1)|Whole gene deletion(1)		ovary(1)|lung(1)	ovary(2)|breast(2)	4						c.(1459-1461)AGT>ATT		myotubularin related protein 8							143.0	123.0	130.0					X																	63548673		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63548673C>A	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1460G>T	X.37:g.63548673C>A	ENSP00000363985:p.Ser487Ile					MTMR8_uc011mou.1_Intron	p.S487I	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			12	1528	-			487			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.1460G>T	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.664|9.664	1.144885|1.144885	0.21288|0.21288	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000374852;ENST00000247400|ENST00000442913	D|.	0.90504|.	-2.68|.	2.93|2.93	-0.0811|-0.0811	0.13704|0.13704	Myotubularin phosphatase domain (1);|.	0.490003|.	0.13463|.	U|.	0.386007|.	T|.	0.55273|.	0.1910|.	M|M	0.72353|0.72353	2.195|2.195	0.42395|0.42395	D|D	0.992548|0.992548	B|.	0.21225|.	0.053|.	B|.	0.22880|.	0.042|.	T|.	0.53208|.	-0.8471|.	10|.	0.33141|.	T|.	0.24|.	.|.	0.2471|0.2471	0.00200|0.00200	0.2034:0.2501:0.1981:0.3483|0.2034:0.2501:0.1981:0.3483	.|.	487|.	Q96EF0|.	MTMR8_HUMAN|.	I|Y	487;373|290	ENSP00000363985:S487I|.	ENSP00000247400:S373I|.	S|X	-|-	2|3	0|2	MTMR8|MTMR8	63465398|63465398	0.997000|0.997000	0.39634|0.39634	0.943000|0.943000	0.38184|0.38184	0.996000|0.996000	0.88848|0.88848	0.341000|0.341000	0.19909|0.19909	0.010000|0.010000	0.14839|0.14839	0.506000|0.506000	0.49869|0.49869	AGT|TAG		PASS	0.453	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		4	47	4	47	---	---	---	---
ZC4H2	55906	broad.mit.edu	37	X	64138987	64138987	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:64138987G>T	ENST00000374839.3	-	4	602	c.496C>A	c.(496-498)Caa>Aaa	p.Q166K	ZC4H2_ENST00000337990.2_Missense_Mutation_p.Q143K|ZC4H2_ENST00000545618.1_Missense_Mutation_p.Q161K|ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000488608.1_5'UTR	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	166					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.Q166K(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTAGCCACTTGGAGCTGTTGG	0.582																																						uc004dvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)CAA>AAA		zinc finger, C4H2 domain containing							48.0	45.0	46.0					X																	64138987		2203	4300	6503	SO:0001583	missense	55906						metal ion binding|protein binding	g.chrX:64138987G>T	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.496C>A	X.37:g.64138987G>T	ENSP00000363972:p.Gln166Lys					ZC4H2_uc004dvv.2_Missense_Mutation_p.Q143K|ZC4H2_uc011mov.1_Missense_Mutation_p.Q143K|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	p.Q166K	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN			4	584	-			166					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	c.496C>A	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255309	0.59321	.	.	ENSG00000126970	ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.51975	0.1706	L	0.43152	1.355	0.80722	D	1	B	0.26547	0.152	B	0.29524	0.103	T	0.48603	-0.9021	9	0.02654	T	1	.	15.733	0.77819	0.0:0.0:1.0:0.0	.	166	Q9NQZ6	ZC4H2_HUMAN	K	161;166;143	.	ENSP00000338650:Q143K	Q	-	1	0	ZC4H2	64055712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.437000	0.97535	2.400000	0.81607	0.600000	0.82982	CAA		PASS	0.582	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		12	39	12	39	---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67283827	67283827	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:67283827C>T	ENST00000355520.5	-	21	2668	c.2027G>A	c.(2026-2028)aGg>aAg	p.R676K	OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	676	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.R676K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ATCCTGCAGCCTAGACACCAA	0.582																																						uc004dww.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2026-2028)AGG>AAG		oligophrenin 1							84.0	66.0	72.0					X																	67283827		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67283827C>T	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2027G>A	X.37:g.67283827C>T	ENSP00000347710:p.Arg676Lys					OPHN1_uc011mpg.1_Intron	p.R676K	NM_002547	NP_002538	O60890	OPHN1_HUMAN			21	2321	-			676			Pro-rich.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.2027G>A	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515391	0.27123	.	.	ENSG00000079482	ENST00000355520	T	0.48201	0.82	5.04	1.96	0.26148	.	0.147080	0.42548	N	0.000695	T	0.26268	0.0641	N	0.24115	0.695	0.09310	N	1	P	0.34662	0.462	B	0.30943	0.122	T	0.10730	-1.0617	10	0.27785	T	0.31	.	6.0207	0.19628	0.0:0.5987:0.0:0.4013	.	676	O60890	OPHN1_HUMAN	K	676	ENSP00000347710:R676K	ENSP00000347710:R676K	R	-	2	0	OPHN1	67200552	0.139000	0.22563	0.002000	0.10522	0.758000	0.43043	0.126000	0.15769	0.054000	0.16065	0.506000	0.49869	AGG		PASS	0.582	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		25	90	25	90	---	---	---	---
NLGN3	54413	broad.mit.edu	37	X	70389467	70389467	+	Silent	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:70389467G>A	ENST00000358741.3	+	8	2370	c.2067G>A	c.(2065-2067)ggG>ggA	p.G689G	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.G649G|NLGN3_ENST00000374051.3_Silent_p.G669G	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	689					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.G689G(1)|p.G669G(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCTGGAACGGGGACCAGGATG	0.617																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzb.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2005-2007)GGG>GGA		neuroligin 3							50.0	41.0	44.0					X																	70389467		2202	4300	6502	SO:0001819	synonymous_variant	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70389467G>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.2067G>A	X.37:g.70389467G>A						NLGN3_uc004dzc.2_Silent_p.G552G|NLGN3_uc011mps.1_Silent_p.G649G|NLGN3_uc004dze.2_Silent_p.G487G	p.G669G	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN			7	2311	+	Renal(35;0.156)		689			Extracellular (Potential).		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	ENST00000358741.3	37	c.2007G>A	CCDS55441.1																																																																																				PASS	0.617	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		6	71	6	71	---	---	---	---
ITGB1BP2	26548	broad.mit.edu	37	X	70524911	70524911	+	Missense_Mutation	SNP	C	C	G			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:70524911C>G	ENST00000373829.3	+	11	986	c.913C>G	c.(913-915)Cac>Gac	p.H305D	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.H287D	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	305					muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.H305D(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CCAGCTGGAGCACCCTGATGC	0.527																																						uc004dzr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(913-915)CAC>GAC		integrin beta 1 binding protein 2							74.0	60.0	65.0					X																	70524911		2203	4300	6503	SO:0001583	missense	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70524911C>G	AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.913C>G	X.37:g.70524911C>G	ENSP00000362935:p.His305Asp					BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.H287D	p.H305D	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN			11	942	+	Renal(35;0.156)		305					Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	c.913C>G	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292232	0.23564	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	.	.	.	5.01	5.01	0.66863	HSP20-like chaperone (1);	0.165275	0.52532	D	0.000067	T	0.41351	0.1155	N	0.24115	0.695	0.41720	D	0.989502	B;B	0.30326	0.276;0.002	B;B	0.24974	0.057;0.002	T	0.36866	-0.9730	9	0.35671	T	0.21	-5.6476	12.3562	0.55176	0.0:1.0:0.0:0.0	.	287;305	Q32N04;Q9UKP3	.;ITBP2_HUMAN	D	305;287	.	ENSP00000362935:H305D	H	+	1	0	ITGB1BP2	70441636	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.565000	0.36386	2.308000	0.77769	0.513000	0.50165	CAC		PASS	0.527	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		6	67	6	67	---	---	---	---
ERCC6L	54821	broad.mit.edu	37	X	71425953	71425953	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:71425953C>A	ENST00000334463.3	-	2	2799	c.2664G>T	c.(2662-2664)gaG>gaT	p.E888D	ERCC6L_ENST00000373657.1_Missense_Mutation_p.E765D|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	888					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E888D(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GACGTAAAATCTCATCATCCT	0.348																																						uc004eaq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2662-2664)GAG>GAT		excision repair protein ERCC6-like							77.0	71.0	73.0					X																	71425953		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425953C>A	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2664G>T	X.37:g.71425953C>A	ENSP00000334675:p.Glu888Asp					PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.E765D	p.E888D	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN			2	2761	-	Renal(35;0.156)		888					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2664G>T	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910365	0.17833	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.91351	-2.81;-2.83	5.25	3.38	0.38709	.	.	.	.	.	D	0.85301	0.5665	L	0.50333	1.59	0.09310	N	1	B	0.18013	0.025	B	0.13407	0.009	T	0.75687	-0.3231	9	0.66056	D	0.02	-5.3809	2.7759	0.05347	0.1838:0.532:0.1753:0.1089	.	888	Q2NKX8	ERC6L_HUMAN	D	765;888	ENSP00000362761:E765D;ENSP00000334675:E888D	ENSP00000334675:E888D	E	-	3	2	ERCC6L	71342678	0.119000	0.22226	0.020000	0.16555	0.423000	0.31445	0.410000	0.21098	0.454000	0.26884	-0.226000	0.12346	GAG		PASS	0.348	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		5	58	5	58	---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75650843	75650843	+	Silent	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:75650843G>A	ENST00000361470.2	+	1	2798	c.2520G>A	c.(2518-2520)caG>caA	p.Q840Q		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	840	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.Q840Q(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TTTTGATGCAGGTCCTAAGCT	0.502																																						uc004ecm.1																			2	Substitution - coding silent(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(2518-2520)CAG>CAA		melanoma antigen family E, 1							56.0	49.0	51.0					X																	75650843		2203	4300	6503	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650843G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2520G>A	X.37:g.75650843G>A							p.Q840Q	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	2727	+			840			Interaction with DTNA (By similarity).|MAGE 2.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.2520G>A	CCDS14433.1																																																																																				PASS	0.502	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		7	61	7	61	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91132791	91132791	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:91132791C>A	ENST00000373094.1	+	2	2397	c.1552C>A	c.(1552-1554)Cgt>Agt	p.R518S	PCDH11X_ENST00000504220.2_Missense_Mutation_p.R518S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R518S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R518S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R518S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R518S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R518S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R518S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R518S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.R518S(3)		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						CCTGGATTGTCGTACAGGCAT	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(1552-1554)CGT>AGT		protocadherin 11 X-linked isoform c							74.0	63.0	67.0					X																	91132791		2202	4300	6502	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132791C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1552C>A	X.37:g.91132791C>A	ENSP00000362186:p.Arg518Ser					PCDH11X_uc004efl.1_Missense_Mutation_p.R518S|PCDH11X_uc004efo.1_Missense_Mutation_p.R518S|PCDH11X_uc010nmv.1_Missense_Mutation_p.R518S|PCDH11X_uc004efm.1_Missense_Mutation_p.R518S|PCDH11X_uc004efn.1_Missense_Mutation_p.R518S|PCDH11X_uc004efh.1_Missense_Mutation_p.R518S|PCDH11X_uc004efj.1_Missense_Mutation_p.R518S	p.R518S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2397	+			518			Cadherin 5.|Extracellular (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.1552C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	3.836	-0.034862	0.07543	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.38	5.38	0.77491	Cadherin (4);Cadherin-like (1);	0.166981	0.51477	D	0.000083	T	0.47154	0.1430	N	0.16201	0.385	0.31087	N	0.711279	P;B;D;D;D;D;P;P	0.61697	0.938;0.154;0.988;0.988;0.988;0.99;0.894;0.894	P;B;P;P;P;D;P;P	0.65140	0.692;0.068;0.819;0.819;0.819;0.932;0.692;0.692	T	0.49513	-0.8932	10	0.27785	T	0.31	.	12.178	0.54196	0.1704:0.8296:0.0:0.0	.	518;518;518;518;518;518;518;518	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	S	518	ENSP00000378746:R518S;ENSP00000362186:R518S;ENSP00000362189:R518S;ENSP00000355040:R518S;ENSP00000362180:R518S;ENSP00000423762:R518S;ENSP00000355105:R518S;ENSP00000384758:R518S;ENSP00000298274:R518S	ENSP00000298274:R518S	R	+	1	0	PCDH11X	91019447	0.997000	0.39634	0.674000	0.29902	0.099000	0.18886	3.563000	0.53784	2.231000	0.72958	0.544000	0.68410	CGT		PASS	0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		12	61	12	61	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91133515	91133515	+	Missense_Mutation	SNP	C	C	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:91133515C>T	ENST00000373094.1	+	2	3121	c.2276C>T	c.(2275-2277)cCt>cTt	p.P759L	PCDH11X_ENST00000504220.2_Missense_Mutation_p.P759L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P759L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P759L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P759L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P759L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P759L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P759L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P759L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	759	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.P759L(3)		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						TTAGGACAGCCTGATTCTCTC	0.418																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2275-2277)CCT>CTT		protocadherin 11 X-linked isoform c							99.0	89.0	93.0					X																	91133515		2203	4297	6500	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133515C>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.2276C>T	X.37:g.91133515C>T	ENSP00000362186:p.Pro759Leu					PCDH11X_uc004efl.1_Missense_Mutation_p.P759L|PCDH11X_uc004efo.1_Missense_Mutation_p.P759L|PCDH11X_uc010nmv.1_Missense_Mutation_p.P759L|PCDH11X_uc004efm.1_Missense_Mutation_p.P759L|PCDH11X_uc004efn.1_Missense_Mutation_p.P759L|PCDH11X_uc004efh.1_Missense_Mutation_p.P759L|PCDH11X_uc004efj.1_Missense_Mutation_p.P759L	p.P759L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3121	+			759			Cadherin 7.|Extracellular (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.2276C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446092	0.63178	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.84156	2.68	0.80722	D	1	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	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	T	0.77362	-0.2616	10	0.87932	D	0	.	16.3137	0.82906	0.0:1.0:0.0:0.0	.	759;759;759;759;759;759;759;759	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	759	ENSP00000378746:P759L;ENSP00000362186:P759L;ENSP00000362189:P759L;ENSP00000355040:P759L;ENSP00000362180:P759L;ENSP00000423762:P759L;ENSP00000355105:P759L;ENSP00000384758:P759L;ENSP00000298274:P759L	ENSP00000298274:P759L	P	+	2	0	PCDH11X	91020171	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.537000	0.82033	2.049000	0.60858	0.538000	0.68166	CCT		PASS	0.418	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		29	110	29	110	---	---	---	---
BTK	695	broad.mit.edu	37	X	100611771	100611771	+	Splice_Site	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:100611771C>A	ENST00000308731.7	-	14	1513		c.e14+1		BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase						adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)	p.?(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTATAACTCACATCATGACTT	0.428									Agammaglobulinemia, X-linked																													uc004ehg.2																			1	Unknown(1)		lung(1)	lung(3)|central_nervous_system(2)|ovary(1)	6	GRCh37	CS022091|CS971634	BTK	S		c.e14+1		Bruton agammaglobulinemia tyrosine kinase							198.0	162.0	174.0					X																	100611771		2203	4300	6503	SO:0001630	splice_region_variant	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100611771C>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1349+1G>T	X.37:g.100611771C>A						BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Splice_Site|BTK_uc010nnj.2_Splice_Site|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Splice_Site_p.M20_splice|BTK_uc010nnm.2_Splice_Site_p.M20_splice|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Splice_Site_p.M484_splice|BTK_uc004ehh.1_Splice_Site|BTK_uc004ehi.2_Splice_Site_p.M450_splice	p.M450_splice	NM_000061	NP_000052	Q06187	BTK_HUMAN			14	1542	-								B2RAW1|Q32ML5	Splice_Site	SNP	ENST00000308731.7	37	c.1349_splice	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642453	0.67244	.	.	ENSG00000010671	ENST00000372860;ENST00000395179;ENST00000443591;ENST00000308731	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9527	0.89058	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BTK	100498427	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.274000	0.75844	0.600000	0.82982	.		PASS	0.428	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	Intron	34	211	34	211	---	---	---	---
FAM199X	139231	broad.mit.edu	37	X	103432834	103432834	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:103432834C>A	ENST00000493442.1	+	5	1009	c.843C>A	c.(841-843)agC>agA	p.S281R	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	281	Ser-rich.							p.S281R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCAGTGCCAGCGCCAGCAGCA	0.567																																						uc004elw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(841-843)AGC>AGA		hypothetical protein LOC139231							107.0	97.0	100.0					X																	103432834		2203	4300	6503	SO:0001583	missense	139231							g.chrX:103432834C>A	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.843C>A	X.37:g.103432834C>A	ENSP00000417581:p.Ser281Arg					FAM199X_uc004elx.2_Missense_Mutation_p.S98R	p.S281R	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN			5	1009	+			281			Ser-rich.		Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	c.843C>A	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834379	0.32421	.	.	ENSG00000123575	ENST00000493442	T	0.45276	0.9	5.15	-0.728	0.11162	.	0.157596	0.56097	D	0.000025	T	0.49660	0.1570	L	0.44542	1.39	0.40250	D	0.978063	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.986	T	0.39921	-0.9590	9	.	.	.	-6.9806	11.3363	0.49505	0.0:0.5102:0.0:0.4898	.	281;281	Q6PEV8-2;Q6PEV8	.;F199X_HUMAN	R	281	ENSP00000417581:S281R	.	S	+	3	2	FAM199X	103319490	0.081000	0.21417	0.998000	0.56505	0.996000	0.88848	-0.750000	0.04808	-0.112000	0.11979	0.506000	0.49869	AGC		PASS	0.567	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		20	190	20	190	---	---	---	---
CLDN2	9075	broad.mit.edu	37	X	106171781	106171781	+	Missense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:106171781G>T	ENST00000541806.1	+	2	842	c.323G>T	c.(322-324)tGc>tTc	p.C108F	CLDN2_ENST00000336803.1_Missense_Mutation_p.C108F|CLDN2_ENST00000540876.1_Missense_Mutation_p.C108F	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	108					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.C108F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ACAGTCTTCTGCCAGGAATCC	0.547																																						uc004emq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(322-324)TGC>TTC		claudin 2							127.0	103.0	111.0					X																	106171781		2203	4300	6503	SO:0001583	missense	9075				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171781G>T	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.323G>T	X.37:g.106171781G>T	ENSP00000441283:p.Cys108Phe					MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Missense_Mutation_p.C108F	p.C108F	NM_020384	NP_065117	P57739	CLD2_HUMAN			2	842	+			108			Cytoplasmic (Potential).		B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.323G>T	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	G	8.336	0.827694	0.16749	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.88509	-2.39;-2.39;-2.39	5.25	2.28	0.28536	.	0.447911	0.26542	N	0.023782	T	0.74450	0.3718	N	0.22421	0.69	0.33275	D	0.561518	B	0.28713	0.22	B	0.27170	0.077	T	0.64850	-0.6310	10	0.10111	T	0.7	.	3.0495	0.06165	0.0983:0.2972:0.4402:0.1643	.	108	P57739	CLD2_HUMAN	F	108	ENSP00000441283:C108F;ENSP00000443230:C108F;ENSP00000336571:C108F	ENSP00000336571:C108F	C	+	2	0	CLDN2	106058437	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.265000	0.33027	0.417000	0.25871	0.523000	0.50628	TGC		PASS	0.547	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			9	145	9	145	---	---	---	---
IL13RA2	3598	broad.mit.edu	37	X	114238647	114238647	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:114238647G>C	ENST00000371936.1	-	11	1388	c.1139C>G	c.(1138-1140)aCa>aGa	p.T380R	IL13RA2_ENST00000243213.1_Missense_Mutation_p.T380R			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	380					cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)	p.T380R(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AAGTCTTCATGTATCACAGAA	0.328																																						uc004epx.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(1138-1140)ACA>AGA		interleukin 13 receptor, alpha 2 precursor							80.0	70.0	73.0					X																	114238647		2200	4299	6499	SO:0001583	missense	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114238647G>C	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.1139C>G	X.37:g.114238647G>C	ENSP00000361004:p.Thr380Arg						p.T380R	NM_000640	NP_000631	Q14627	I13R2_HUMAN			10	1264	-			380			Cytoplasmic (Potential).		A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	c.1139C>G	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	G	8.873	0.949689	0.18431	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.90385	-2.66;-2.66	3.68	-5.46	0.02608	.	4.904490	0.01737	N	0.029219	T	0.77624	0.4158	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.65405	-0.6176	10	0.87932	D	0	.	2.0975	0.03672	0.2256:0.1051:0.4376:0.2316	.	380	Q14627	I13R2_HUMAN	R	380	ENSP00000361004:T380R;ENSP00000243213:T380R	ENSP00000243213:T380R	T	-	2	0	IL13RA2	114144903	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.149000	0.10204	-1.267000	0.02443	-1.266000	0.01441	ACA		PASS	0.328	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640		7	42	7	42	---	---	---	---
PLS3	5358	broad.mit.edu	37	X	114880810	114880810	+	Missense_Mutation	SNP	G	G	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:114880810G>A	ENST00000420625.2	+	13	1600	c.1466G>A	c.(1465-1467)gGg>gAg	p.G489E	PLS3_ENST00000537301.1_Missense_Mutation_p.G476E|PLS3_ENST00000539310.1_Missense_Mutation_p.G444E|PLS3_ENST00000543070.1_Missense_Mutation_p.G83E|PLS3_ENST00000355899.3_Missense_Mutation_p.G489E|PLS3_ENST00000289290.3_Missense_Mutation_p.G453E	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	489	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.G489E(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CTGAATGATGGGAACCAAACC	0.428																																					Colon(160;1047 1864 8490 12969 29601)	uc004eqd.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(1465-1467)GGG>GAG		plastin 3							174.0	144.0	154.0					X																	114880810		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114880810G>A	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.1466G>A	X.37:g.114880810G>A	ENSP00000398945:p.Gly489Glu					PLS3_uc010nqg.2_Missense_Mutation_p.G271E|PLS3_uc011mtf.1_Missense_Mutation_p.G476E|PLS3_uc004eqe.2_Missense_Mutation_p.G489E|PLS3_uc011mtg.1_Missense_Mutation_p.G462E|PLS3_uc011mth.1_Missense_Mutation_p.G444E|PLS3_uc011mti.1_Missense_Mutation_p.G165E|PLS3_uc011mtj.1_Missense_Mutation_p.G83E|PLS3_uc011mtk.1_Missense_Mutation_p.G150E|PLS3_uc011mtl.1_RNA	p.G489E	NM_005032	NP_005023	P13797	PLST_HUMAN			13	1856	+			489			Actin-binding 2.|CH 3.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.1466G>A	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784043	0.90282	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310;ENST00000543070	D;D;D;D;D;D	0.97924	-4.61;-4.61;-4.61;-4.61;-4.61;-4.61	5.22	5.22	0.72569	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	M	0.90082	3.085	0.80722	D	1	D;D;D;D	0.89917	0.993;0.995;1.0;0.993	D;D;D;D	0.87578	0.914;0.919;0.998;0.914	D	0.99804	1.1037	10	0.87932	D	0	-9.9079	16.3766	0.83401	0.0:0.0:1.0:0.0	.	462;476;453;489	B4DPW9;B4DGB4;F8W8D8;P13797	.;.;.;PLST_HUMAN	E	489;476;453;489;444;83	ENSP00000348163:G489E;ENSP00000445105:G476E;ENSP00000289290:G453E;ENSP00000398945:G489E;ENSP00000445339:G444E;ENSP00000439260:G83E	ENSP00000289290:G453E	G	+	2	0	PLS3	114787066	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.869000	0.99810	2.170000	0.68504	0.506000	0.49869	GGG		PASS	0.428	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			7	136	7	136	---	---	---	---
PGRMC1	10857	broad.mit.edu	37	X	118377201	118377201	+	Missense_Mutation	SNP	C	C	A			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:118377201C>A	ENST00000217971.7	+	3	683	c.572C>A	c.(571-573)gCc>gAc	p.A191D	PGRMC1_ENST00000535419.1_Missense_Mutation_p.A139D	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	191					axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)	p.A191D(1)		lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	GATGAGAGTGCCCGGAAAAAT	0.408																																						uc004erb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)GCC>GAC		progesterone receptor membrane component 1							96.0	99.0	98.0					X																	118377201		2203	4300	6503	SO:0001583	missense	10857					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding	g.chrX:118377201C>A		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.572C>A	X.37:g.118377201C>A	ENSP00000217971:p.Ala191Asp					PGRMC1_uc011mts.1_Missense_Mutation_p.A139D	p.A191D	NM_006667	NP_006658	O00264	PGRC1_HUMAN			3	688	+			191			Cytoplasmic (Potential).		B7Z1L3|Q9UGJ9	Missense_Mutation	SNP	ENST00000217971.7	37	c.572C>A	CCDS14576.1	.	.	.	.	.	.	.	.	.	.	.	3.538	-0.094221	0.07053	.	.	ENSG00000101856	ENST00000217971;ENST00000535419	T;T	0.77620	-1.11;-1.1	4.65	2.63	0.31362	.	0.762369	0.12462	N	0.466782	T	0.59390	0.2190	N	0.21448	0.665	0.09310	N	0.999997	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.40346	-0.9568	10	0.15952	T	0.53	-1.79	5.4634	0.16630	0.502:0.3658:0.1322:0.0	.	139;191	B7Z1L3;O00264	.;PGRC1_HUMAN	D	191;139	ENSP00000217971:A191D;ENSP00000442821:A139D	ENSP00000217971:A191D	A	+	2	0	PGRMC1	118261229	.	.	0.169000	0.22859	0.434000	0.31775	.	.	0.287000	0.22375	-0.558000	0.04189	GCC		PASS	0.408	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667		5	58	5	58	---	---	---	---
AKAP14	158798	broad.mit.edu	37	X	119053904	119053904	+	Missense_Mutation	SNP	G	G	C			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:119053904G>C	ENST00000371431.3	+	6	746	c.472G>C	c.(472-474)Gac>Cac	p.D158H	RP3-327A19.5_ENST00000455986.1_RNA|AKAP14_ENST00000371425.4_Missense_Mutation_p.D98H|AKAP14_ENST00000371423.2_Missense_Mutation_p.D99H|AKAP14_ENST00000334356.2_Missense_Mutation_p.D98H|AKAP14_ENST00000491105.1_3'UTR	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	158					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)		p.D158H(1)		endometrium(4)|large_intestine(1)|lung(8)	13						TTATGTAGGTGACCACCAAGC	0.418																																						uc004ese.2																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)GAC>CAC		A kinase (PRKA) anchor protein 14 isoform a							256.0	188.0	211.0					X																	119053904		2203	4300	6503	SO:0001583	missense	158798					cytoplasm		g.chrX:119053904G>C	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.472G>C	X.37:g.119053904G>C	ENSP00000360485:p.Asp158His					AKAP14_uc004esf.2_Missense_Mutation_p.D98H	p.D158H	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN			6	610	+			158					A6NNZ0|Q86UN4|Q86UN5	Missense_Mutation	SNP	ENST00000371431.3	37	c.472G>C	CCDS14591.1	.	.	.	.	.	.	.	.	.	.	G	9.748	1.166670	0.21621	.	.	ENSG00000186471	ENST00000371431;ENST00000371423;ENST00000371425;ENST00000334356	.	.	.	4.23	3.36	0.38483	.	0.398208	0.23688	N	0.045545	T	0.16599	0.0399	N	0.08118	0	0.19945	N	0.999948	B;P	0.44309	0.064;0.832	B;B	0.42798	0.044;0.398	T	0.05435	-1.0885	9	0.72032	D	0.01	-10.8437	7.0169	0.24892	0.1287:0.0:0.8713:0.0	.	98;158	A6NNZ0;Q86UN6	.;AKA28_HUMAN	H	158;99;98;98	.	ENSP00000334680:D98H	D	+	1	0	AKAP14	118937932	0.013000	0.17824	0.014000	0.15608	0.001000	0.01503	1.118000	0.31246	0.918000	0.36919	0.544000	0.68410	GAC		PASS	0.418	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813		6	115	6	115	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135593630	135593630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-21-1076-01A-02D-1521-08	TCGA-21-1076-11A-01D-1521-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	504d4cb0-d2dd-420d-82e6-9ec14434a0fc	578a4a76-b3a4-4c8e-9e54-b7ae27ac482f	g.chrX:135593630G>T	ENST00000218364.4	+	9	1900	c.1726G>T	c.(1726-1728)Gag>Tag	p.E576*	HTATSF1_ENST00000535601.1_Nonsense_Mutation_p.E576*	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	576	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E576*(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGATTTGGACGAGGAAGGTTC	0.393																																						uc004ezw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1726-1728)GAG>TAG		HIV-1 Tat specific factor 1							51.0	55.0	54.0					X																	135593630		2201	4298	6499	SO:0001587	stop_gained	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593630G>T	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1726G>T	X.37:g.135593630G>T	ENSP00000218364:p.Glu576*					HTATSF1_uc004ezx.2_Nonsense_Mutation_p.E576*	p.E576*	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN			10	2148	+	Acute lymphoblastic leukemia(192;0.000127)		576			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Nonsense_Mutation	SNP	ENST00000218364.4	37	c.1726G>T	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	38	6.915413	0.97932	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	.	.	.	4.27	2.47	0.30058	.	0.136568	0.33959	N	0.004400	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.3303	3.6976	0.08371	0.2322:0.2136:0.5542:0.0	.	.	.	.	X	576	.	ENSP00000218364:E576X	E	+	1	0	HTATSF1	135421296	0.066000	0.20996	0.015000	0.15790	0.541000	0.35023	0.986000	0.29590	0.546000	0.28920	0.429000	0.28392	GAG		PASS	0.393	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		13	64	13	64	---	---	---	---
