#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_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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DTX1	1840	broad.mit.edu	37	12	113532986	113532986	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:113532986A>G	ENST00000257600.3	+	7	2029	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	509					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGCATCGTCTATGACATCCCC	0.652																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1525-1527)tAt>tGt		deltex homolog 1 (Drosophila)							106.0	105.0	105.0					12																	113532986		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532986A>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1526A>G	12.37:g.113532986A>G	ENSP00000257600:p.Tyr509Cys					DTX1_ENST00000547974.1_3'UTR	p.Y509C	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			7	2029	+			509					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1526A>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847346	0.71603	.	.	ENSG00000135144	ENST00000257600	T	0.51817	0.69	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84421	0.0571	10	0.87932	D	0	-7.4684	12.84	0.57797	1.0:0.0:0.0:0.0	.	509	Q86Y01	DTX1_HUMAN	C	509	ENSP00000257600:Y509C	ENSP00000257600:Y509C	Y	+	2	0	DTX1	112017369	1.000000	0.71417	0.895000	0.35142	0.834000	0.47266	7.245000	0.78237	1.663000	0.50791	0.459000	0.35465	TAT		0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			21	117	0	0	0	0.706142	0	21	117				
CDH5	1003	broad.mit.edu	37	16	66422319	66422319	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:66422319G>A	ENST00000341529.3	+	4	740	c.592G>A	c.(592-594)Gag>Aag	p.E198K	CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GAAGGGGAAAGAGTATTTTGC	0.527																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(592-594)Gag>Aag		cadherin 5, type 2 (vascular endothelium)							244.0	197.0	213.0					16																	66422319		2202	4300	6502	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66422319G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.592G>A	16.37:g.66422319G>A	ENSP00000344115:p.Glu198Lys					CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	4	740	+		Ovarian(137;0.0955)	198			Cadherin 2.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.592G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049415	0.55218	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.51071	0.72	5.46	3.49	0.39957	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33990	0.0882	N	0.16567	0.415	0.54753	D	0.999988	B	0.24576	0.106	B	0.32289	0.143	T	0.25117	-1.0141	9	0.62326	D	0.03	.	10.2436	0.43328	0.1623:0.0:0.8377:0.0	.	198	P33151	CADH5_HUMAN	K	198	ENSP00000344115:E198K	ENSP00000344115:E198K	E	+	1	0	CDH5	64979820	0.973000	0.33851	0.043000	0.18650	0.932000	0.56968	2.492000	0.45311	1.296000	0.44742	0.563000	0.77884	GAG		0.527	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		23	122	0	0	0	0.681144	0	23	122				
ARIH2	10425	broad.mit.edu	37	3	49004609	49004609	+	Nonsense_Mutation	SNP	C	C	T	rs554254556	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:49004609C>T	ENST00000356401.4	+	6	778	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ARIH2_ENST00000449376.1_Nonsense_Mutation_p.R147*|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	147					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GCAGTTTGTGCGAAAGGAAAA	0.572																																						ENST00000356401.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(439-441)Cga>Tga		ariadne RBR E3 ubiquitin protein ligase 2							217.0	188.0	198.0					3																	49004609		2203	4300	6503	SO:0001587	stop_gained	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49004609C>T	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.439C>T	3.37:g.49004609C>T	ENSP00000348769:p.Arg147*					ARIH2_ENST00000449376.1_Nonsense_Mutation_p.R147*|ARIH2_ENST00000490095.1_3'UTR	p.R147*	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	6	778	+			147					Q9HBZ6|Q9UEM9	Nonsense_Mutation	SNP	ENST00000356401.4	37	c.439C>T	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	C	38	6.816055	0.97861	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8917	0.96932	0.0:1.0:0.0:0.0	.	.	.	.	X	147;147;146	.	.	R	+	1	2	ARIH2	48979613	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	3.552000	0.53705	2.705000	0.92388	0.591000	0.81541	CGA		0.572	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		14	145	0	0	0	0.500413	0	14	145				
SIPA1L3	23094	broad.mit.edu	37	19	38655514	38655514	+	Silent	SNP	G	G	A	rs572759177		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:38655514G>A	ENST00000222345.6	+	15	4685	c.4176G>A	c.(4174-4176)gcG>gcA	p.A1392A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1392					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGGACTGGCGGGGGGCAGCC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		13383	0.001		0.0	False		,,,				2504	0.0					ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(4174-4176)gcG>gcA		signal-induced proliferation-associated 1 like 3							11.0	12.0	12.0					19																	38655514		1897	3825	5722	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38655514G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4176G>A	19.37:g.38655514G>A							p.A1392A	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		15	4685	+			1392					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.4176G>A	CCDS33007.1																																																																																				0.657	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		10	26	0	0	0	0.411799	0	10	26				
SMPDL3A	10924	broad.mit.edu	37	6	123127403	123127403	+	Silent	SNP	G	G	A	rs41292582	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr6:123127403G>A	ENST00000368440.4	+	7	1122	c.945G>A	c.(943-945)gtG>gtA	p.V315V	SMPDL3A_ENST00000539041.1_Silent_p.V184V	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	315					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CTTTGTTTGTGGCTCCTGCTG	0.323													G|||	2	0.000399361	0.0	0.0	5008	,	,		16869	0.0		0.002	False		,,,				2504	0.0					ENST00000368440.4																			0				breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(943-945)gtG>gtA		sphingomyelin phosphodiesterase, acid-like 3A		G		1,4405	2.1+/-5.4	0,1,2202	111.0	110.0	110.0		945	5.8	1.0	6	dbSNP_127	110	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	SMPDL3A	NM_006714.3		0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615		315/454	123127403	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123127403G>A	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.945G>A	6.37:g.123127403G>A						SMPDL3A_ENST00000539041.1_Silent_p.V184V	p.V315V	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	7	1122	+			315					B7Z729|Q8WV13	Silent	SNP	ENST00000368440.4	37	c.945G>A	CCDS5128.1																																																																																				0.323	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		7	32	0	0	0	0.307466	0	7	32				
IPO5	3843	broad.mit.edu	37	13	98655152	98655152	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr13:98655152A>G	ENST00000490680.1	+	13	1423	c.1358A>G	c.(1357-1359)cAa>cGa	p.Q453R	IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R|IPO5_ENST00000261574.5_Missense_Mutation_p.Q471R			O00410	IPO5_HUMAN	importin 5	453					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATGGAAGACCAAGGCAATCAA	0.453																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1411-1413)cAa>cGa		importin 5							89.0	77.0	81.0					13																	98655152		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98655152A>G	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1358A>G	13.37:g.98655152A>G	ENSP00000418393:p.Gln453Arg					IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R|IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R	p.Q471R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			16	1592	+			453					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1412A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.81|15.81	2.942338|2.942338	0.53079|0.53079	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.16743	.|2.32;2.32;2.32;2.32	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22975|0.22975	0.0555|0.0555	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.23442	.|0.085;0.017;0.03	.|B;B;B	.|0.35770	.|0.21;0.039;0.085	T|T	0.04216|0.04216	-1.0968|-1.0968	5|10	.|0.25106	.|T	.|0.35	-17.1489|-17.1489	15.9975|15.9975	0.80262|0.80262	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|328;453;471	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	E|R	455|471;453;453;328	.|ENSP00000261574:Q471R;ENSP00000350219:Q453R;ENSP00000418393:Q453R;ENSP00000445126:Q328R	.|ENSP00000261574:Q471R	K|Q	+|+	1|2	0|0	IPO5|IPO5	97453153|97453153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.257000|9.257000	0.95545|0.95545	2.170000|2.170000	0.68504|0.68504	0.460000|0.460000	0.39030|0.39030	AAG|CAA		0.453	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		6	20	0	0	0	0.217242	0	6	20				
KCTD1	284252	broad.mit.edu	37	18	24128246	24128246	+	Intron	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr18:24128246C>T	ENST00000408011.3	-	1	545				KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000417602.1_Silent_p.L85L|KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000579973.1_Intron	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cgtcctcctccagccccccac	0.697																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(253-255)ctG>ctA		potassium channel tetramerization domain containing 1							2.0	4.0	4.0					18																	24128246		593	1465	2058	SO:0001627	intron_variant	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24128246C>T	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+608G>A	18.37:g.24128246C>T						KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron	p.L85L	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		1	254	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		0			BTB.		A8K1F5	Silent	SNP	ENST00000408011.3	37	c.255G>A	CCDS11888.1																																																																																				0.697	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		2	2	0	0	0	0.115264	0	2	2				
EIF2AK3	9451	broad.mit.edu	37	2	88874185	88874185	+	Splice_Site	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:88874185T>C	ENST00000303236.3	-	13	3117	c.2816A>G	c.(2815-2817)aAg>aGg	p.K939R	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788R|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	939	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						AATACAGACCTTGAGGTCCCT	0.488																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.e13+1		eukaryotic translation initiation factor 2-alpha kinase 3							74.0	70.0	71.0					2																	88874185		2203	4300	6503	SO:0001630	splice_region_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874185T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2817+1A>G	2.37:g.88874185T>C						EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788_splice|AC104134.2_ENST00000413234.1_RNA	p.K939_splice	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	3117	-			939			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Splice_Site	SNP	ENST00000303236.3	37	c.2817_splice	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.977975	0.92982	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	D;D;D	0.90900	-2.75;-2.75;-2.75	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96685	0.8918	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97784	1.0234	10	0.87932	D	0	-13.3376	15.8817	0.79208	0.0:0.0:0.0:1.0	.	939	Q9NZJ5	E2AK3_HUMAN	R	788;939;788;818	ENSP00000408325:K788R;ENSP00000307235:K939R;ENSP00000412076:K818R	ENSP00000307235:K939R	K	-	2	0	EIF2AK3	88655300	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.156000	0.67533	0.460000	0.39030	AAG		0.488	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836	Missense_Mutation	4	17	0	0	0	0.150653	0	4	17				
SYCP1	6847	broad.mit.edu	37	1	115489915	115489915	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:115489915C>A	ENST00000369522.3	+	27	2536	c.2296C>A	c.(2296-2298)Caa>Aaa	p.Q766K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	766					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTAAGAAGCAACTTGAAAT	0.318																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2296-2298)Caa>Aaa		synaptonemal complex protein 1							65.0	69.0	67.0					1																	115489915		2203	4293	6496	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115489915C>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2296C>A	1.37:g.115489915C>A	ENSP00000358535:p.Gln766Lys					SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	p.Q766K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	27	2536	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	766					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2296C>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503105	0.44558	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.52754	0.65;0.65;0.65	5.12	3.17	0.36434	.	0.127671	0.53938	D	0.000054	T	0.29158	0.0725	M	0.70275	2.135	0.37689	D	0.923762	B	0.15473	0.013	B	0.20384	0.029	T	0.11131	-1.0600	10	0.33940	T	0.23	-4.035	11.1718	0.48575	0.1442:0.7171:0.1388:0.0	.	766	Q15431	SYCP1_HUMAN	K	766	ENSP00000358535:Q766K;ENSP00000410011:Q766K;ENSP00000358531:Q766K	ENSP00000358531:Q766K	Q	+	1	0	SYCP1	115291438	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	1.619000	0.36965	0.621000	0.30232	0.650000	0.86243	CAA		0.318	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		12	58	1	0	1.05317e-09	0.457914	1.32791e-09	12	58				
PLEKHA4	57664	broad.mit.edu	37	19	49364696	49364696	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:49364696C>A	ENST00000263265.6	-	5	883	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	110	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCTCCCGGCCCATCTGGTCTA	0.612																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(328-330)Ggg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							48.0	61.0	56.0					19																	49364696		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49364696C>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.328G>T	19.37:g.49364696C>A	ENSP00000263265:p.Gly110Trp					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W	p.G110W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	5	883	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	110			PH.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.328G>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	19.79	3.892927	0.72524	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.75821	-0.97;-0.97	4.56	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.424077	0.22724	N	0.056413	D	0.86698	0.5995	M	0.83603	2.65	0.32589	N	0.5275	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.89775	0.3957	10	0.87932	D	0	.	15.2385	0.73450	0.0:1.0:0.0:0.0	.	110;110	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	110	ENSP00000263265:G110W;ENSP00000347683:G110W	ENSP00000263265:G110W	G	-	1	0	PLEKHA4	54056508	0.881000	0.30235	1.000000	0.80357	0.992000	0.81027	3.609000	0.54117	2.548000	0.85928	0.457000	0.33378	GGG		0.612	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			7	78	1	0	0.0477658	0.307466	0.0532772	7	78				
SCYL2	55681	broad.mit.edu	37	12	100706228	100706228	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:100706228G>C	ENST00000360820.2	+	6	1086	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTGTAAAGAATGGGACCC	0.343																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(649-651)Gaa>Caa		SCY1-like 2 (S. cerevisiae)							77.0	74.0	75.0					12																	100706228		2202	4300	6502	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100706228G>C	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.649G>C	12.37:g.100706228G>C	ENSP00000354061:p.Glu217Gln						p.E217Q	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			6	1086	+			217			Protein kinase.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.649G>C	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016413	0.93404	.	.	ENSG00000136021	ENST00000549687;ENST00000548392;ENST00000258506;ENST00000360820	T;T	0.66099	-0.19;-0.19	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	L	0.47716	1.5	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.65463	-0.6162	10	0.20046	T	0.44	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	217	Q6P3W7	SCYL2_HUMAN	Q	217;44;44;217	ENSP00000448366:E217Q;ENSP00000354061:E217Q	ENSP00000258506:E44Q	E	+	1	0	SCYL2	99230359	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.624000	0.98398	2.721000	0.93114	0.655000	0.94253	GAA		0.343	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		3	41	0	0	0	0.115264	0	3	41				
ZFHX3	463	broad.mit.edu	37	16	72830348	72830348	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:72830348G>A	ENST00000268489.5	-	9	6905	c.6233C>T	c.(6232-6234)cCg>cTg	p.P2078L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1164L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2078					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGCTGGGCCGGTGCAATTGT	0.672																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6232-6234)cCg>cTg		zinc finger homeobox 3							68.0	58.0	61.0					16																	72830348		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830348G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6233C>T	16.37:g.72830348G>A	ENSP00000268489:p.Pro2078Leu					ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1164L	p.P2078L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6905	-		Ovarian(137;0.13)	2078					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6233C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073200	0.36566	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74106	-0.81;-0.8	5.4	5.4	0.78164	.	0.000000	0.46442	D	0.000289	T	0.67144	0.2862	L	0.36672	1.1	0.80722	D	1	B	0.30211	0.273	B	0.22753	0.041	T	0.66308	-0.5956	10	0.51188	T	0.08	.	19.1839	0.93635	0.0:0.0:1.0:0.0	.	2078	Q15911	ZFHX3_HUMAN	L	2078;1164	ENSP00000268489:P2078L;ENSP00000438926:P1164L	ENSP00000268489:P2078L	P	-	2	0	ZFHX3	71387849	1.000000	0.71417	0.048000	0.18961	0.020000	0.10135	7.882000	0.87258	2.523000	0.85059	0.655000	0.94253	CCG		0.672	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	93	0	0	0	0.115264	0	3	93				
VRTN	55237	broad.mit.edu	37	14	74825501	74825501	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:74825501A>T	ENST00000256362.4	+	2	2256	c.2015A>T	c.(2014-2016)aAg>aTg	p.K672M		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	672					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCTACAAGGAGTTCAGT	0.567																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2014-2016)aAg>aTg		vertebrae development associated							84.0	68.0	73.0					14																	74825501		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825501A>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.2015A>T	14.37:g.74825501A>T	ENSP00000256362:p.Lys672Met						p.K672M	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	2256	+			672					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.2015A>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235891	0.79800	.	.	ENSG00000133980	ENST00000256362	T	0.61392	0.11	4.27	4.27	0.50696	.	0.000000	0.85682	U	0.000000	T	0.64897	0.2640	L	0.32530	0.975	0.52099	D	0.999945	D	0.89917	1.0	D	0.85130	0.997	T	0.68432	-0.5410	10	0.87932	D	0	-24.4381	12.1709	0.54157	1.0:0.0:0.0:0.0	.	672	Q9H8Y1	VRTN_HUMAN	M	672	ENSP00000256362:K672M	ENSP00000256362:K672M	K	+	2	0	VRTN	73895254	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.564000	0.73969	1.802000	0.52723	0.477000	0.44152	AAG		0.567	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		24	74	0	0	0	0.717897	0	24	74				
OPA1	4976	broad.mit.edu	37	3	193361334	193361334	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:193361334G>A	ENST00000392438.3	+	13	1464	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000361150.2_Missense_Mutation_p.M411I|OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361510.2_Missense_Mutation_p.M465I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	410	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CATCAGGCATGGCTCCTGACA	0.308																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1393-1395)atG>atA		optic atrophy 1 (autosomal dominant)							86.0	84.0	85.0					3																	193361334		2203	4299	6502	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193361334G>A	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1230G>A	3.37:g.193361334G>A	ENSP00000376233:p.Met410Ile					OPA1_ENST00000361150.2_Missense_Mutation_p.M411I|OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I	p.M465I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	15	1629	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		410					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1395G>A	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770527	0.90108	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1;-4.1	5.79	5.79	0.91817	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	L	0.42744	1.35	0.80722	D	1	D;D;D;D;D;D;D;D	0.69078	0.977;0.985;0.977;0.977;0.997;0.977;0.969;0.988	D;D;D;D;D;D;D;D	0.81914	0.966;0.977;0.966;0.966;0.995;0.966;0.968;0.954	D	0.97873	1.0287	10	0.87932	D	0	-20.891	18.5901	0.91208	0.0:0.0:1.0:0.0	.	374;410;392;411;428;447;429;465	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	I	447;410;465;429;428;411	ENSP00000354681:M447I;ENSP00000376233:M410I;ENSP00000355324:M465I;ENSP00000355311:M429I;ENSP00000354429:M428I;ENSP00000354781:M411I	ENSP00000354781:M411I	M	+	3	0	OPA1	194844028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.803000	0.99136	2.735000	0.93741	0.655000	0.94253	ATG		0.308	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		11	46	0	0	0	0.387290	0	11	46				
TEP1	7011	broad.mit.edu	37	14	20856080	20856080	+	Missense_Mutation	SNP	G	G	A	rs552770900		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:20856080G>A	ENST00000262715.5	-	18	2708	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	890					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGAAACAGGAGCCAAGGGG	0.542																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2668-2670)Cct>Tct		telomerase-associated protein 1							95.0	91.0	92.0					14																	20856080		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20856080G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2668C>T	14.37:g.20856080G>A	ENSP00000262715:p.Pro890Ser					TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	p.P890S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	18	2708	-	all_cancers(95;0.00123)	all_lung(585;0.235)	890					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2668C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	g	9.320	1.057919	0.19987	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.48836	0.81;0.8	5.47	1.69	0.24217	.	0.235735	0.33732	N	0.004612	T	0.35508	0.0934	L	0.40543	1.245	0.26428	N	0.975984	B;B;B	0.24721	0.033;0.11;0.02	B;B;B	0.26770	0.032;0.073;0.014	T	0.22312	-1.0220	10	0.42905	T	0.14	-4.5293	8.2025	0.31432	0.3196:0.0:0.6804:0.0	.	782;240;890	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	S	890;890;782	ENSP00000262715:P890S;ENSP00000452574:P782S	ENSP00000262715:P890S	P	-	1	0	TEP1	19925920	0.720000	0.27996	0.738000	0.30950	0.395000	0.30598	0.250000	0.18235	0.048000	0.15891	-0.897000	0.02905	CCT		0.542	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		17	88	0	0	0	0.592651	0	17	88				
COL25A1	84570	broad.mit.edu	37	4	109740459	109740459	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:109740459T>C	ENST00000399132.1	-	36	2402	c.1872A>G	c.(1870-1872)aaA>aaG	p.K624K		NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTGGCTCCCCTTTTTCCCCCT	0.453																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1870-1872)aaA>aaG		collagen, type XXV, alpha 1							74.0	77.0	76.0					4																	109740459		1891	4107	5998	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109740459T>C	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1872A>G	4.37:g.109740459T>C							p.K624K	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	36	2402	-		Hepatocellular(203;0.217)	624			Collagen-like 7.			Silent	SNP	ENST00000399132.1	37	c.1872A>G	CCDS43258.1																																																																																				0.453	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		3	50	0	0	0	0.150653	0	3	50				
AKR7L	246181	broad.mit.edu	37	1	19597014	19597014	+	RNA	SNP	G	G	T	rs371635302	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:19597014G>T	ENST00000429712.1	-	0	557				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTTCCCAGGCGGCATAGTTGG	0.622													.|||	4	0.000798722	0.0008	0.0014	5008	,	,		19363	0.001		0.0	False		,,,				2504	0.001					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like		G		0,4406		0,0,2203	64.0	61.0	62.0			-4.4	0.0	1		62	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	TT,TG,GG		0.0116,0.0,0.0077			19597014	1,13005	2203	4300	6503			246181							g.chr1:19597014G>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597014G>T						AKR7L_ENST00000429712.1_RNA								0	437	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	G	4.626	0.116388	0.08881	0.0	1.16E-4	ENSG00000211454	ENST00000420396;ENST00000457194	T	0.29917	1.55	4.08	-4.41	0.03590	.	.	.	.	.	T	0.26629	0.0651	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39961	-0.9588	6	0.72032	D	0.01	.	5.8288	0.18568	0.5481:0.0:0.2165:0.2355	.	.	.	.	Q	34;102	ENSP00000406430:P34Q	ENSP00000406430:P34Q	P	-	2	0	AKR7L	19469601	0.000000	0.05858	0.040000	0.18447	0.018000	0.09664	-3.649000	0.00404	-1.157000	0.02815	-1.038000	0.02383	CCG		0.622	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	74	1	0	0.00116845	0.217242	0.0013554	3	74				
AKR7L	246181	broad.mit.edu	37	1	19597040	19597040	+	RNA	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:19597040C>T	ENST00000429712.1	-	0	531				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCAAGCTCCACGAACTTGCCC	0.617																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like																																						246181							g.chr1:19597040C>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597040C>T						AKR7L_ENST00000429712.1_RNA								0	411	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	C	4.613	0.113921	0.08831	.	.	ENSG00000211454	ENST00000429712	.	.	.	4.19	2.28	0.28536	NADP-dependent oxidoreductase domain (3);	0.240515	0.40640	N	0.001046	T	0.36496	0.0969	.	.	.	0.80722	D	1	B	0.27853	0.191	B	0.24974	0.057	T	0.14924	-1.0455	8	0.45353	T	0.12	.	3.7801	0.08677	0.0:0.5287:0.1895:0.2817	.	138	Q8NHP1	ARK74_HUMAN	M	138	.	ENSP00000411913:V138M	V	-	1	0	AKR7L	19469627	1.000000	0.71417	0.959000	0.39883	0.066000	0.16364	2.798000	0.47884	0.522000	0.28464	-0.259000	0.10710	GTG		0.617	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		4	56	0	0	0	0.184627	0	4	56				
YTHDC1	91746	broad.mit.edu	37	4	69198540	69198540	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:69198540T>C	ENST00000344157.4	-	6	1334	c.999A>G	c.(997-999)ttA>ttG	p.L333L	YTHDC1_ENST00000579690.1_Silent_p.L333L|YTHDC1_ENST00000355665.3_Intron	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	333					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGGAAGATGATAATTTCTCAT	0.328																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(997-999)ttA>ttG		YTH domain containing 1							99.0	89.0	93.0					4																	69198540		2202	4299	6501	SO:0001819	synonymous_variant	91746							g.chr4:69198540T>C	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.999A>G	4.37:g.69198540T>C						YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Silent_p.L333L	p.L333L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			6	1334	-			333					Q4W5Q3|Q7Z622|Q8TF35	Silent	SNP	ENST00000344157.4	37	c.999A>G	CCDS33992.1																																																																																				0.328	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		4	46	0	0	0	0.217242	0	4	46				
SRRM2	23524	broad.mit.edu	37	16	2817170	2817170	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:2817170C>T	ENST00000301740.8	+	11	7190	c.6641C>T	c.(6640-6642)cCg>cTg	p.P2214L	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2214	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.P2214Q(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTTCCAGCCCCGGTGCCTCTC	0.612																																						ENST00000301740.8																			1	Substitution - Missense(1)	p.P2214Q(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(6640-6642)cCg>cTg		serine/arginine repetitive matrix 2							61.0	69.0	66.0					16																	2817170		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817170C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6641C>T	16.37:g.2817170C>T	ENSP00000301740:p.Pro2214Leu						p.P2214L	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7190	+			2214			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.6641C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913740	0.33815	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.78481	-1.18	5.73	4.78	0.61160	.	0.093959	0.47455	N	0.000224	T	0.78496	0.4292	N	0.19112	0.55	0.44508	D	0.997451	D	0.89917	1.0	D	0.76575	0.988	T	0.80564	-0.1326	10	0.72032	D	0.01	-10.7743	10.6554	0.45671	0.0:0.9119:0.0:0.0881	.	2214	Q9UQ35	SRRM2_HUMAN	L	2214;1466	ENSP00000301740:P2214L	ENSP00000301740:P2214L	P	+	2	0	SRRM2	2757171	0.964000	0.33143	0.981000	0.43875	0.922000	0.55478	2.842000	0.48230	1.439000	0.47511	0.591000	0.81541	CCG		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			3	75	0	0	0	0.115264	0	3	75				
CYP2S1	29785	broad.mit.edu	37	19	41704492	41704492	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:41704492G>C	ENST00000310054.4	+	4	835	c.619G>C	c.(619-621)Ggt>Cgt	p.G207R	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	207					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGCAGCTGGTGGTACCCTGCT	0.627																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(619-621)Ggt>Cgt		cytochrome P450, family 2, subfamily S, polypeptide 1							80.0	75.0	77.0					19																	41704492		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41704492G>C	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.619G>C	19.37:g.41704492G>C	ENSP00000308032:p.Gly207Arg					CYP2S1_ENST00000542619.1_Intron	p.G207R	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			4	835	+			207					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.619G>C	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	g	14.18	2.457292	0.43634	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.68181	-0.31	5.06	4.02	0.46733	.	0.540152	0.19347	U	0.116514	T	0.65637	0.2710	N	0.21097	0.63	0.19945	N	0.999949	D	0.59767	0.986	P	0.61132	0.884	T	0.56366	-0.7991	10	0.54805	T	0.06	.	9.5264	0.39167	0.099:0.0:0.901:0.0	.	207	Q96SQ9	CP2S1_HUMAN	R	207	ENSP00000308032:G207R	ENSP00000301173:G207R	G	+	1	0	CYP2S1	46396332	0.426000	0.25506	0.006000	0.13384	0.714000	0.41099	2.316000	0.43761	1.134000	0.42165	0.306000	0.20318	GGT		0.627	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			8	114	0	0	0	0.335167	0	8	114				
KRTAP4-6	81871	broad.mit.edu	37	17	39296318	39296318	+	Missense_Mutation	SNP	C	C	T	rs554116063	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr17:39296318C>T	ENST00000345847.4	-	1	421	c.422G>A	c.(421-423)cGt>cAt	p.R141H		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	141	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)		p.R141H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						gcagctgggacggcagcagGT	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		24372	0.001		0.0	False		,,,				2504	0.001					ENST00000345847.4																			1	Substitution - Missense(1)	p.R141H(1)	endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(421-423)cGt>cAt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296318C>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.422G>A	17.37:g.39296318C>T	ENSP00000328270:p.Arg141His						p.R141H	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	421	-			137			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.422G>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	19.15	3.771633	0.69992	.	.	ENSG00000198090	ENST00000345847	T	0.01495	4.83	4.78	2.78	0.32641	.	367.945000	0.00496	U	0.000153	T	0.06554	0.0168	M	0.73962	2.25	0.09310	N	1	.	.	.	.	.	.	T	0.39901	-0.9591	8	0.54805	T	0.06	.	8.7055	0.34351	0.0:0.8116:0.0:0.1884	.	.	.	.	H	141	ENSP00000328270:R141H	ENSP00000328270:R141H	R	-	2	0	KRTAP4-6	36549844	0.000000	0.05858	0.002000	0.10522	0.924000	0.55760	-0.407000	0.07178	0.440000	0.26502	0.558000	0.71614	CGT		0.672	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	33	0	0	0	0.150653	0	3	33				
MYH9	4627	broad.mit.edu	37	22	36681972	36681972	+	Missense_Mutation	SNP	G	G	A	rs372871106		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr22:36681972G>A	ENST00000216181.5	-	36	5319	c.5089C>T	c.(5089-5091)Cgc>Tgc	p.R1697C	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1697					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGGCCTGGCGCTTGGCACGC	0.652			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(5089-5091)Cgc>Tgc		myosin, heavy chain 9, non-muscle			CYS/ARG	0,4406		0,0,2203	42.0	41.0	42.0		5089	3.9	1.0	22		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH9	NM_002473.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1697/1961	36681972	1,13005	2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36681972G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5089C>T	22.37:g.36681972G>A	ENSP00000216181:p.Arg1697Cys					MYH9_ENST00000475726.1_5'UTR	p.R1697C	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			36	5319	-			1697					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.5089C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766742	0.69878	0.0	1.16E-4	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	D	0.82081	-1.57	4.96	3.93	0.45458	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.91246	0.7241	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.92816	0.6268	10	0.87932	D	0	.	13.665	0.62389	0.0768:0.0:0.9232:0.0	.	1697	P35579	MYH9_HUMAN	C	1119;299;1697	ENSP00000216181:R1697C	ENSP00000216181:R1697C	R	-	1	0	MYH9	35011918	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	4.362000	0.59467	2.294000	0.77228	0.306000	0.20318	CGC		0.652	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	52	0	0	0	0.307466	0	7	52				
ALPP	250	broad.mit.edu	37	2	233246234	233246234	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:233246234C>T	ENST00000392027.2	+	11	1606	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	446					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGCAGTCAGCAGTGCCCCTG	0.667																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(1336-1338)gCa>gTa		alkaline phosphatase, placental							26.0	30.0	29.0					2																	233246234		2202	4300	6502	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246234C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1337C>T	2.37:g.233246234C>T	ENSP00000375881:p.Ala446Val					AC068134.8_ENST00000441266.1_RNA	p.A446V	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1606	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	446					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.1337C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328057	0.60743	.	.	ENSG00000163283	ENST00000392027	D	0.96940	-4.18	2.35	2.35	0.29111	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	M	0.69185	2.1	0.58432	D	0.999994	D	0.64830	0.994	P	0.54965	0.765	D	0.95897	0.8912	10	0.54805	T	0.06	.	13.0087	0.58720	0.0:1.0:0.0:0.0	.	446	P05187	PPB1_HUMAN	V	446	ENSP00000375881:A446V	ENSP00000375881:A446V	A	+	2	0	ALPP	232954478	1.000000	0.71417	0.022000	0.16811	0.139000	0.21198	5.278000	0.65592	1.294000	0.44707	0.305000	0.20034	GCA		0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		10	22	0	0	0	0.435327	0	10	22				
MRC2	9902	broad.mit.edu	37	17	60741987	60741987	+	Missense_Mutation	SNP	C	C	T	rs200452538		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr17:60741987C>T	ENST00000303375.5	+	2	599	c.197C>T	c.(196-198)cCg>cTg	p.P66L	Y_RNA_ENST00000384652.1_RNA	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	66	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGAGTCACCCCGGCTTGCAAT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		19170	0.001		0.0	False		,,,				2504	0.0					ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(196-198)cCg>cTg		mannose receptor, C type 2							79.0	79.0	79.0					17																	60741987		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60741987C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.197C>T	17.37:g.60741987C>T	ENSP00000307513:p.Pro66Leu						p.P66L	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			2	599	+			66			Ricin B-type lectin.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.197C>T	CCDS11634.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.59	1.984110	0.35036	.	.	ENSG00000011028	ENST00000303375	T	0.27890	1.64	4.7	4.7	0.59300	Ricin B-related lectin (1);Ricin B lectin (2);	0.522890	0.21494	N	0.073627	T	0.19327	0.0464	L	0.36672	1.1	0.80722	D	1	B	0.25486	0.127	B	0.15870	0.014	T	0.14254	-1.0479	10	0.37606	T	0.19	-2.4707	3.658	0.08228	0.1832:0.5741:0.1535:0.0892	.	66	Q9UBG0	MRC2_HUMAN	L	66	ENSP00000307513:P66L	ENSP00000307513:P66L	P	+	2	0	MRC2	58095719	0.081000	0.21417	0.990000	0.47175	0.956000	0.61745	1.483000	0.35497	2.450000	0.82876	0.561000	0.74099	CCG		0.632	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			4	70	0	0	0	0.184627	0	4	70				
PRKDC	5591	broad.mit.edu	37	8	48739269	48739269	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr8:48739269G>T	ENST00000314191.2	-	64	8784	c.8728C>A	c.(8728-8730)Cgt>Agt	p.R2910S	PRKDC_ENST00000338368.3_Missense_Mutation_p.R2910S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2911	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCCTTCCCACGGACTCGCTTG	0.627								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8728-8730)Cgt>Agt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							26.0	29.0	28.0					8																	48739269		2054	4200	6254	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48739269G>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8728C>A	8.37:g.48739269G>T	ENSP00000313420:p.Arg2910Ser					PRKDC_ENST00000338368.3_Missense_Mutation_p.R2910S|PRKDC_ENST00000523565.1_5'UTR	p.R2910S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			64	8784	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2911			FAT.|KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.8728C>A		.	.	.	.	.	.	.	.	.	.	G	10.43	1.348404	0.24426	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03004	4.15;4.08	5.7	3.88	0.44766	PIK-related kinase (1);	0.159083	0.42682	D	0.000668	T	0.06781	0.0173	M	0.75264	2.295	0.48087	D	0.99958	P;B	0.39862	0.692;0.08	B;B	0.38458	0.274;0.023	T	0.34354	-0.9832	10	0.20519	T	0.43	.	13.9289	0.63981	0.0:0.0:0.6012:0.3988	.	2910;2911	E7EUY0;P78527	.;PRKDC_HUMAN	S	2910	ENSP00000313420:R2910S;ENSP00000345182:R2910S	ENSP00000313420:R2910S	R	-	1	0	PRKDC	48901822	1.000000	0.71417	0.012000	0.15200	0.144000	0.21451	4.366000	0.59492	0.727000	0.32360	0.655000	0.94253	CGT		0.627	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	26	1	0	0.0381472	0.278610	0.0433831	6	26				
MACF1	23499	broad.mit.edu	37	1	39888543	39888543	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:39888543G>C	ENST00000372915.3	+	59	16222	c.16135G>C	c.(16135-16137)Gtg>Ctg	p.V5379L	MACF1_ENST00000564288.1_Missense_Mutation_p.V5374L|MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5379					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGTATAAAGTGGTGAAAGC	0.458																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16120-16122)Gtg>Ctg		microtubule-actin crosslinking factor 1							74.0	73.0	74.0					1																	39888543		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39888543G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16135G>C	1.37:g.39888543G>C	ENSP00000362006:p.Val5379Leu					MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L|MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L	p.V5374L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		60	16897	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5379					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16120G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.932544|4.932544	0.92458|0.92458	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.50001	.|0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.56097	.|D	.|0.000030	T|T	0.66839|0.66839	0.2830|0.2830	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.54207	.|0.876;0.965;0.909	.|P;P;P	.|0.59424	.|0.613;0.857;0.731	T|T	0.66830|0.66830	-0.5824|-0.5824	5|10	.|0.72032	.|D	.|0.01	.|.	20.4043|20.4043	0.99006|0.99006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5379;3312;3256	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	T|L	2424|3312;5379;3312;3312;3291;3814;128	.|ENSP00000439537:V3312L;ENSP00000362006:V5379L;ENSP00000354573:V3312L;ENSP00000313438:V3312L;ENSP00000444364:V3291L;ENSP00000289893:V3814L;ENSP00000433104:V128L	.|ENSP00000289893:V3814L	S|V	+|+	2|1	0|0	MACF1|MACF1	39661130|39661130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.864000|9.864000	0.99589|0.99589	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	29	0	0	0	0.184627	0	4	29				
SCGB1A1	7356	broad.mit.edu	37	11	62189705	62189705	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:62189705T>C	ENST00000278282.2	+	2	129	c.68T>C	c.(67-69)aTc>aCc	p.I23T	CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	23					embryo implantation (GO:0007566)|female pregnancy (GO:0007565)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of inflammatory response (GO:0050727)|regulation of mRNA stability (GO:0043488)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fibroblast growth factor (GO:0071774)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to silicon dioxide (GO:0034021)|response to xenobiotic stimulus (GO:0009410)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nuclear envelope (GO:0005635)|rough endoplasmic reticulum (GO:0005791)|secretory granule (GO:0030141)	phospholipase A2 inhibitor activity (GO:0019834)			lung(1)	1						TCTGCAGAGATCTGCCCGAGC	0.557																																						ENST00000278282.2																			0				lung(1)	1						c.(67-69)aTc>aCc		secretoglobin, family 1A, member 1 (uteroglobin)							93.0	84.0	87.0					11																	62189705		2202	4299	6501	SO:0001583	missense	7356				embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity	g.chr11:62189705T>C		CCDS8020.1	11q12.3	2011-12-14	2002-03-22	2002-03-22	ENSG00000149021	ENSG00000149021		"""Secretoglobins"""	12523	protein-coding gene	gene with protein product	"""Uteroglobin (Clara-cell specific 10-kD protein)"""	192020	"""uteroglobin"""	UGB		1284526, 22155607	Standard	NM_003357		Approved	CC10, CCSP, CC16	uc001ntj.3	P11684	OTTHUMG00000167526	ENST00000278282.2:c.68T>C	11.37:g.62189705T>C	ENSP00000278282:p.Ile23Thr					CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR	p.I23T	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN			2	129	+			23					B2R5F2|Q6FHH3|Q9UCM2|Q9UCM4	Missense_Mutation	SNP	ENST00000278282.2	37	c.68T>C	CCDS8020.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.697810	0.30142	.	.	ENSG00000149021	ENST00000278282	T	0.25085	1.82	4.73	3.6	0.41247	.	0.634499	0.13798	N	0.362043	T	0.17023	0.0409	.	.	.	0.26668	N	0.97177	B	0.18013	0.025	B	0.18263	0.021	T	0.18903	-1.0322	9	0.34782	T	0.22	-14.9	7.312	0.26479	0.0:0.1018:0.0:0.8982	.	23	P11684	UTER_HUMAN	T	23	ENSP00000278282:I23T	ENSP00000278282:I23T	I	+	2	0	SCGB1A1	61946281	0.006000	0.16342	0.387000	0.26183	0.018000	0.09664	-0.227000	0.09126	0.780000	0.33566	0.460000	0.39030	ATC		0.557	SCGB1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394925.1	NM_003357		3	65	0	0	0	0.217242	0	3	65				
LRRTM1	347730	broad.mit.edu	37	2	80529936	80529936	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:80529936C>T	ENST00000295057.3	-	2	1665	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	337	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAGTTGCCATCGTAGCGCCCC	0.657										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1009-1011)Gat>Aat		leucine rich repeat transmembrane neuronal 1							29.0	27.0	27.0					2																	80529936		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529936C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1009G>A	2.37:g.80529936C>T	ENSP00000295057:p.Asp337Asn	HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron	p.D337N	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1665	-			337			LRRCT.		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1009G>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789431	0.90367	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.42900	0.96;0.96	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	T	0.58694	0.2140	L	0.58428	1.81	0.80722	D	1	D	0.71674	0.998	P	0.60012	0.867	T	0.56165	-0.8024	9	.	.	.	.	18.995	0.92809	0.0:1.0:0.0:0.0	.	337	Q86UE6	LRRT1_HUMAN	N	337	ENSP00000295057:D337N;ENSP00000386646:D337N	.	D	-	1	0	LRRTM1	80383447	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.808000	0.86044	2.452000	0.82932	0.655000	0.94253	GAT		0.657	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		4	22	0	0	0	0.184627	0	4	22				
ZNF33B	7582	broad.mit.edu	37	10	43088476	43088476	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:43088476T>A	ENST00000359467.3	-	5	2036	c.1922A>T	c.(1921-1923)gAg>gTg	p.E641V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	641					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTCCACACTCATTACATTC	0.388																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1921-1923)gAg>gTg		zinc finger protein 33B							114.0	117.0	116.0					10																	43088476		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088476T>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1922A>T	10.37:g.43088476T>A	ENSP00000352444:p.Glu641Val					ZNF33B_ENST00000486187.1_RNA	p.E641V	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	2036	-			641					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1922A>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984433	0.35036	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.37915	1.17	2.69	1.48	0.22813	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.234181	0.21823	N	0.068594	T	0.16811	0.0404	N	0.05124	-0.11	0.09310	N	1	B	0.31519	0.327	B	0.32928	0.155	T	0.15263	-1.0443	10	0.54805	T	0.06	.	7.2489	0.26138	0.0:0.0:0.2259:0.774	.	641	Q06732	ZN33B_HUMAN	V	641;607	ENSP00000352444:E641V	ENSP00000352444:E641V	E	-	2	0	ZNF33B	42408482	0.001000	0.12720	0.901000	0.35422	0.958000	0.62258	0.927000	0.28818	0.427000	0.26145	0.336000	0.21669	GAG		0.388	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		4	107	0	0	0	0.217242	0	4	107				
CPA5	93979	broad.mit.edu	37	7	129989880	129989880	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr7:129989880A>G	ENST00000485477.1	+	4	1392	c.263A>G	c.(262-264)gAa>gGa	p.E88G	CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	88						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTTTCTCTGAACTGAAAGAC	0.527																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(262-264)gAa>gGa		carboxypeptidase A5							122.0	123.0	123.0					7																	129989880		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129989880A>G	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.263A>G	7.37:g.129989880A>G	ENSP00000420237:p.Glu88Gly					CPA5_ENST00000355388.3_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G	p.E88G			Q8WXQ8	CBPA5_HUMAN			4	1392	+	Melanoma(18;0.0435)		88					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.263A>G	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	A	9.445	1.089116	0.20390	.	.	ENSG00000158525	ENST00000355388;ENST00000463587;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.76	3.31	0.37934	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.531074	0.17397	N	0.175697	T	0.10981	0.0268	L	0.36672	1.1	0.29566	N	0.850233	B;B	0.09022	0.002;0.001	B;B	0.12837	0.005;0.008	T	0.20638	-1.0269	9	.	.	.	.	10.0483	0.42199	0.6726:0.3274:0.0:0.0	.	88;88	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	G	88	ENSP00000347549:E88G;ENSP00000420060:E88G;ENSP00000418183:E88G;ENSP00000419025:E88G;ENSP00000420237:E88G;ENSP00000393045:E88G;ENSP00000417314:E88G;ENSP00000376907:E88G	.	E	+	2	0	CPA5	129777116	0.980000	0.34600	0.990000	0.47175	0.066000	0.16364	1.169000	0.31871	0.404000	0.25506	0.533000	0.62120	GAA		0.527	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		11	101	0	0	0	0.387290	0	11	101				
KAT6B	23522	broad.mit.edu	37	10	76735743	76735743	+	Missense_Mutation	SNP	A	A	T	rs543814514		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:76735743A>T	ENST00000287239.4	+	8	2137	c.1648A>T	c.(1648-1650)Atc>Ttc	p.I550F	KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	550	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GCTTTCTCATATCTATACCAC	0.512																																						ENST00000287239.4																			0											c.(1648-1650)Atc>Ttc		K(lysine) acetyltransferase 6B							101.0	90.0	94.0					10																	76735743		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76735743A>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1648A>T	10.37:g.76735743A>T	ENSP00000287239:p.Ile550Phe					KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron	p.I550F	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			8	2137	+			550			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1648A>T	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461197	0.43736	.	.	ENSG00000156650	ENST00000287239	T	0.61510	0.1	6.08	6.08	0.98989	.	0.139910	0.32204	N	0.006429	T	0.50854	0.1640	N	0.19112	0.55	0.80722	D	1	D	0.53885	0.963	P	0.49012	0.598	T	0.48581	-0.9023	9	.	.	.	-3.372	15.214	0.73250	1.0:0.0:0.0:0.0	.	550	Q8WYB5	KAT6B_HUMAN	F	550	ENSP00000287239:I550F	.	I	+	1	0	KAT6B	76405749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.564000	0.90726	2.330000	0.79161	0.533000	0.62120	ATC		0.512	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		9	59	0	0	0	0.387290	0	9	59				
NLRP10	338322	broad.mit.edu	37	11	7982031	7982031	+	Missense_Mutation	SNP	C	C	A	rs74451065	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:7982031C>A	ENST00000328600.2	-	2	1289	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	376	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTAGGTGTCTCTAAGACAA	0.547																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1126-1128)gaG>gaT		NLR family, pyrin domain containing 10							93.0	67.0	76.0					11																	7982031		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982031C>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1128G>T	11.37:g.7982031C>A	ENSP00000327763:p.Glu376Asp						p.E376D	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1289	-			376			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1128G>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	6.684	0.494896	0.12702	.	.	ENSG00000182261	ENST00000328600	T	0.81163	-1.46	5.05	0.639	0.17747	.	0.190876	0.25869	N	0.027768	T	0.65428	0.2690	L	0.38531	1.155	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.47935	-0.9078	10	0.25106	T	0.35	.	5.3467	0.16014	0.0:0.4404:0.3693:0.1902	.	376	Q86W26	NAL10_HUMAN	D	376	ENSP00000327763:E376D	ENSP00000327763:E376D	E	-	3	2	NLRP10	7938607	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	-0.630000	0.05502	0.232000	0.21100	0.655000	0.94253	GAG		0.547	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		10	26	1	0	1.76689e-08	0.335167	2.18042e-08	10	26				
SIDT1	54847	broad.mit.edu	37	3	113325954	113325954	+	Missense_Mutation	SNP	G	G	A	rs146353910	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:113325954G>A	ENST00000264852.4	+	15	2197	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	SIDT1_ENST00000393830.3_Missense_Mutation_p.V491I|SIDT1_ENST00000463226.1_Intron	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	491					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCCCTTGGGCGTCCTGAGGTA	0.433													G|||	4	0.000798722	0.0023	0.0	5008	,	,		22105	0.0		0.0	False		,,,				2504	0.001					ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1471-1473)Gtc>Atc		SID1 transmembrane family, member 1		G	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	109.0	91.0	97.0		1471	4.8	0.9	3	dbSNP_134	97	0,8600		0,0,4300	yes	missense	SIDT1	NM_017699.2	29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	491/828	113325954	4,13002	2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113325954G>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1471G>A	3.37:g.113325954G>A	ENSP00000264852:p.Val491Ile					SIDT1_ENST00000463226.1_Intron|SIDT1_ENST00000393830.3_Missense_Mutation_p.V491I	p.V491I	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			15	2197	+			491					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.1471G>A	CCDS2974.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	13.93	2.383501	0.42207	9.08E-4	0.0	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.22743	1.94;1.94	5.7	4.83	0.62350	.	0.290182	0.29684	N	0.011469	T	0.10121	0.0248	N	0.16790	0.44	0.42273	D	0.992067	B;B	0.19583	0.03;0.037	B;B	0.23419	0.027;0.046	T	0.08432	-1.0722	10	0.18276	T	0.48	-16.5783	14.7068	0.69198	0.0692:0.0:0.9308:0.0	.	491;491	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	I	491	ENSP00000264852:V491I;ENSP00000377416:V491I	ENSP00000264852:V491I	V	+	1	0	SIDT1	114808644	1.000000	0.71417	0.919000	0.36401	0.995000	0.86356	4.200000	0.58433	1.417000	0.47077	0.655000	0.94253	GTC		0.433	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		3	58	0	0	0	0.150653	0	3	58				
FAM174B	400451	broad.mit.edu	37	15	93173520	93173520	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr15:93173520C>G	ENST00000327355.5	-	2	698	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	134						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						TCCACTCGCTCTGCTGGAGTG	0.478																																						ENST00000327355.5																			0				endometrium(2)|lung(1)	3						c.(400-402)Gag>Cag		family with sequence similarity 174, member B							121.0	119.0	120.0					15																	93173520		2106	4220	6326	SO:0001583	missense	400451					integral to membrane		g.chr15:93173520C>G		CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.400G>C	15.37:g.93173520C>G	ENSP00000329040:p.Glu134Gln					FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR	p.E134Q	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN			2	698	-			134					Q3ZCR9|Q8NBH7	Missense_Mutation	SNP	ENST00000327355.5	37	c.400G>C	CCDS45355.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322435	0.81580	.	.	ENSG00000185442	ENST00000327355	T	0.54071	0.59	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.72779	0.3503	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75701	-0.3226	10	0.87932	D	0	-32.414	17.8724	0.88815	0.0:1.0:0.0:0.0	.	134	Q3ZCQ3	F174B_HUMAN	Q	134	ENSP00000329040:E134Q	ENSP00000329040:E134Q	E	-	1	0	FAM174B	90974524	1.000000	0.71417	0.894000	0.35097	0.520000	0.34377	6.837000	0.75354	2.525000	0.85131	0.591000	0.81541	GAG		0.478	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		8	26	0	0	0	0.307466	0	8	26				
RYR2	6262	broad.mit.edu	37	1	237753955	237753955	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:237753955G>A	ENST00000366574.2	+	31	4140	c.3823G>A	c.(3823-3825)Ggc>Agc	p.G1275S	RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1275	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.G1273R(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)			CAGAATAGACGGCACCATAGA	0.423																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.G1273R(1)	lung(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						c.(3823-3825)Ggc>Agc		ryanodine receptor 2 (cardiac)							187.0	179.0	182.0					1																	237753955		1953	4142	6095	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.chr1:237753955G>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.3823G>A	1.37:g.237753955G>A	ENSP00000355533:p.Gly1275Ser					RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S	p.G1275S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4140	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1275			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3823G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.989559	0.74589	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96774	-4.12;-4.1;-4.11	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000015	D	0.95771	0.8624	M	0.73962	2.25	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	D	0.93296	0.6672	10	0.72032	D	0.01	.	18.915	0.92501	0.0:0.0:1.0:0.0	.	1275	Q92736	RYR2_HUMAN	S	1275;1273;1259	ENSP00000355533:G1275S;ENSP00000353174:G1273S;ENSP00000443798:G1259S	ENSP00000353174:G1273S	G	+	1	0	RYR2	235820578	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.597000	0.98273	2.777000	0.95525	0.655000	0.94253	GGC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	105	0	0	0	0.592651	0	19	105				
ADAD2	161931	broad.mit.edu	37	16	84229221	84229221	+	Missense_Mutation	SNP	G	G	A	rs201035894		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:84229221G>A	ENST00000315906.5	+	6	1022	c.970G>A	c.(970-972)Gga>Aga	p.G324R	RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.G406R|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	324	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCCAGGGCCCGGACCCCCATT	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		14356	0.0		0.001	False		,,,				2504	0.0					ENST00000268624.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1216-1218)Gga>Aga		adenosine deaminase domain containing 2							22.0	28.0	26.0					16																	84229221		2200	4298	6498	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229221G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.970G>A	16.37:g.84229221G>A	ENSP00000325153:p.Gly324Arg					RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.G324R	p.G406R	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			7	1309	+			324			A to I editase.		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1216G>A	CCDS45536.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.407	1.079428	0.20227	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93859	-3.3;-3.3	4.92	3.93	0.45458	Adenosine deaminase/editase (2);	0.201974	0.44285	D	0.000473	D	0.92632	0.7659	M	0.81802	2.56	0.36445	D	0.86572	P;D	0.56968	0.506;0.978	B;B	0.43194	0.146;0.411	D	0.93852	0.7146	10	0.87932	D	0	-20.6296	10.6906	0.45869	0.0:0.0:0.8086:0.1914	.	324;406	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	R	324;406	ENSP00000325153:G324R;ENSP00000268624:G406R	ENSP00000268624:G406R	G	+	1	0	ADAD2	82786722	0.958000	0.32768	0.687000	0.30102	0.027000	0.11550	1.728000	0.38105	1.151000	0.42436	0.555000	0.69702	GGA		0.687	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		4	29	0	0	0	0.150653	0	4	29				
FLI1	2313	broad.mit.edu	37	11	128680431	128680431	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:128680431G>A	ENST00000527786.2	+	9	1396	c.907G>A	c.(907-909)Gag>Aag	p.E303K	FLI1_ENST00000344954.6_Missense_Mutation_p.E270K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	303					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TATCACCTGGGAGGGGACCAA	0.617			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(808-810)Gag>Aag		Fli-1 proto-oncogene, ETS transcription factor							19.0	22.0	21.0					11																	128680431		2186	4293	6479	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680431G>A	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.907G>A	11.37:g.128680431G>A	ENSP00000433488:p.Glu303Lys					FLI1_ENST00000534087.1_Missense_Mutation_p.E270K|FLI1_ENST00000429175.2_Missense_Mutation_p.E303K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K	p.E270K			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1196	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	303					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.808G>A	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977028	0.92982	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.216108	0.47852	D	0.000201	T	0.75236	0.3822	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;D	0.91635	0.997;0.999;0.911	T	0.77517	-0.2558	10	0.87932	D	0	.	19.6722	0.95915	0.0:0.0:1.0:0.0	.	303;110;237	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	K	110;270;303;270;237	ENSP00000437124:E110K;ENSP00000339627:E270K;ENSP00000399985:E303K;ENSP00000432950:E270K;ENSP00000281428:E237K	ENSP00000281428:E237K	E	+	1	0	FLI1	128185641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.585000	0.79938	GAG		0.617	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	9	0	0	0	0.115264	0	3	9				
CABP1	9478	broad.mit.edu	37	12	121094004	121094004	+	Intron	SNP	G	G	A	rs202143699		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:121094004G>A	ENST00000316803.3	+	2	788				CABP1_ENST00000453000.1_Missense_Mutation_p.A131T|CABP1_ENST00000288616.3_Missense_Mutation_p.A52T|CABP1_ENST00000351200.2_Intron	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGAACTGCGCAGTCATGCA	0.647																																						ENST00000453000.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.(391-393)Gca>Aca		calcium binding protein 1		G	,,THR/ALA	0,4406		0,0,2203	33.0	31.0	32.0		,,154	5.8	0.8	12		32	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	CABP1	NM_001033677.1,NM_004276.3,NM_031205.2	,,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,,52/228	121094004	1,13005	2203	4300	6503	SO:0001627	intron_variant	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121094004G>A	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.655-3677G>A	12.37:g.121094004G>A						CABP1_ENST00000288616.3_Missense_Mutation_p.A52T|CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron	p.A131T			Q9NZU7	CABP1_HUMAN			1	903	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		0			Pro-rich.		O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	c.391G>A	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518952	0.64634	0.0	1.16E-4	ENSG00000157782	ENST00000288616;ENST00000453000	T;T	0.73681	-0.61;-0.77	5.82	5.82	0.92795	.	.	.	.	.	T	0.59838	0.2223	N	0.11201	0.11	0.34756	D	0.732245	B;B	0.26876	0.162;0.043	B;B	0.19946	0.027;0.003	T	0.61955	-0.6956	9	0.30854	T	0.27	.	20.089	0.97809	0.0:0.0:1.0:0.0	.	131;52	C9J8G2;Q9NZU7-1	.;.	T	52;131	ENSP00000288616:A52T;ENSP00000398959:A131T	ENSP00000288616:A52T	A	+	1	0	CABP1	119578387	1.000000	0.71417	0.828000	0.32881	0.975000	0.68041	6.017000	0.70805	2.765000	0.95021	0.591000	0.81541	GCA		0.647	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		3	39	0	0	0	0.115264	0	3	39				
OBSCN	84033	broad.mit.edu	37	1	228487672	228487672	+	Intron	SNP	G	G	A	rs55939441		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:228487672G>A	ENST00000422127.1	+	43	11703				OBSCN_ENST00000366707.4_Missense_Mutation_p.A1212T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A4522T|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000602685.1_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAAAGGCGGCCCCCGTGGA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18327	0.0		0.001	False		,,,				2504	0.0					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13564-13566)Gcc>Acc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	,	0,1752		0,0,876	110.0	101.0	104.0		,	3.4	0.7	1	dbSNP_129	104	7,3975		0,7,1984	no	intron,intron	OBSCN	NM_001098623.1,NM_052843.2	,	0,7,2860	AA,AG,GG		0.1758,0.0,0.1221	,	,	228487672	7,5727	876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228487672G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11659+4928G>A	1.37:g.228487672G>A						OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1212T|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366709.4_Intron	p.A4522T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			51	13638	+		Prostate(94;0.0405)	3565					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.13564G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684839	0.88639	0.0	0.001758	ENSG00000154358	ENST00000366707	T	0.66995	-0.24	4.37	3.43	0.39272	.	.	.	.	.	T	0.73931	0.3650	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74318	-0.3704	6	0.45353	T	0.12	.	13.4522	0.61178	0.0:0.0:0.8419:0.1581	rs55939441	.	.	.	T	1212	ENSP00000355668:A1212T	ENSP00000355668:A1212T	A	+	1	0	OBSCN	226554295	0.947000	0.32204	0.658000	0.29665	0.707000	0.40811	4.586000	0.60984	0.987000	0.38709	0.561000	0.74099	GCC		0.557	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	67	0	0	0	0.115264	0	3	67				
NLGN1	22871	broad.mit.edu	37	3	173322456	173322456	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:173322456G>A	ENST00000457714.1	+	3	497	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	NLGN1_ENST00000545397.1_Missense_Mutation_p.R23Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R23Q|NLGN1_ENST00000401917.3_Missense_Mutation_p.R23Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	23					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|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)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.R23L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGGTACACCGGGGATTGGGT	0.507																																						ENST00000457714.1																			2	Substitution - Missense(2)	p.R23L(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(67-69)cGg>cAg		neuroligin 1							209.0	190.0	196.0					3																	173322456		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322456G>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.68G>A	3.37:g.173322456G>A	ENSP00000392500:p.Arg23Gln					NLGN1_ENST00000401917.3_Missense_Mutation_p.R23Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R23Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R23Q	p.R23Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	497	+	Ovarian(172;0.0025)		23					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.68G>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	6.074	0.381872	0.11524	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.70749	-0.18;-0.18;-0.51;-0.18;-0.19	5.62	3.51	0.40186	.	0.305841	0.27284	N	0.020077	T	0.43010	0.1228	N	0.14661	0.345	0.18873	N	0.999989	B;B	0.25772	0.054;0.134	B;B	0.15870	0.005;0.014	T	0.12734	-1.0536	10	0.12430	T	0.62	.	3.2497	0.06810	0.0839:0.2085:0.4264:0.2811	.	23;23	D2X2H5;Q8N2Q7-2	.;.	Q	23	ENSP00000392500:R23Q;ENSP00000354541:R23Q;ENSP00000410374:R23Q;ENSP00000441108:R23Q;ENSP00000385750:R23Q	ENSP00000354541:R23Q	R	+	2	0	NLGN1	174805150	0.867000	0.29959	0.988000	0.46212	0.362000	0.29581	0.733000	0.26087	1.351000	0.45789	0.467000	0.42956	CGG		0.507	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		27	84	0	0	0	0.693898	0	27	84				
RAG1	5896	broad.mit.edu	37	11	36596041	36596041	+	Missense_Mutation	SNP	G	G	A	rs104894291		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:36596041G>A	ENST00000299440.5	+	2	1299	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	396			R -> C (in OS; dbSNP:rs104894289). {ECO:0000269|PubMed:10606976, ECO:0000269|PubMed:9630231}.|R -> H (in OS; dbSNP:rs104894291). {ECO:0000269|PubMed:19912631, ECO:0000269|PubMed:9630231}.|R -> L (in OS; dbSNP:rs104894291). {ECO:0000269|PubMed:11133745}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R396H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGCCGGCCCCGCCAACATCTT	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			1	Substitution - Missense(1)	p.R396H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	GRCh37	CM010067|CM981691	RAG1	M	rs104894291	c.(1186-1188)cGc>cAc		recombination activating gene 1		G	HIS/ARG	0,4404		0,0,2202	40.0	47.0	45.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1187	5.6	1.0	11	dbSNP_132	45	2,8594	2.2+/-6.3	0,2,4296	yes	missense	RAG1	NM_000448.2	29	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	396/1044	36596041	2,12998	2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596041G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1187G>A	11.37:g.36596041G>A	ENSP00000299440:p.Arg396His						p.R396H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	1299	+	all_lung(20;0.226)	all_hematologic(20;0.107)	396		R -> C (in OS).|R -> H (in OS).|R -> L (in OS).			E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1187G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570436	0.86542	0.0	2.33E-4	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73681	-0.77;-0.76	5.64	5.64	0.86602	RAG nonamer-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87561	0.6208	M	0.81239	2.535	0.80722	A	1	D	0.76494	0.999	D	0.76575	0.988	D	0.88462	0.3056	9	0.87932	D	0	.	19.7762	0.96393	0.0:0.0:1.0:0.0	.	396	P15918	RAG1_HUMAN	H	396	ENSP00000434610:R396H;ENSP00000299440:R396H	ENSP00000299440:R396H	R	+	2	0	RAG1	36552617	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	CGC		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		3	66	0	0	0	0.115264	0	3	66				
ZBBX	79740	broad.mit.edu	37	3	167000276	167000276	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:167000276T>C	ENST00000392766.2	-	19	2227	c.1887A>G	c.(1885-1887)aaA>aaG	p.K629K	ZBBX_ENST00000392767.2_Silent_p.K629K|ZBBX_ENST00000307529.5_Silent_p.K668K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	629						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			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						GTCTCTGTGATTTCTGACCTA	0.353																																						ENST00000392766.2																			0				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						c.(1885-1887)aaA>aaG		zinc finger, B-box domain containing							97.0	95.0	96.0					3																	167000276		1807	4061	5868	SO:0001819	synonymous_variant	79740					intracellular	zinc ion binding	g.chr3:167000276T>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.1887A>G	3.37:g.167000276T>C						ZBBX_ENST00000307529.5_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392767.2_Silent_p.K629K	p.K629K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			19	2227	-			629					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	c.1887A>G	CCDS3199.2																																																																																				0.353	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		3	70	0	0	0	0.150653	0	3	70				
CD38	952	broad.mit.edu	37	4	15835906	15835906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:15835906G>A	ENST00000226279.3	+	4	703	c.566G>A	c.(565-567)tGg>tAg	p.W189*		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	189					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TCAGTATTCTGGAAAACGGTT	0.398																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(565-567)tGg>tAg		CD38 molecule							82.0	80.0	81.0					4																	15835906		2203	4300	6503	SO:0001587	stop_gained	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15835906G>A	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.566G>A	4.37:g.15835906G>A	ENSP00000226279:p.Trp189*						p.W189*	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			4	703	+			189					O00121|O00122|Q96HY4	Nonsense_Mutation	SNP	ENST00000226279.3	37	c.566G>A	CCDS3417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.06|14.06	2.421318|2.421318	0.42918|0.42918	.|.	.|.	ENSG00000004468|ENSG00000004468	ENST00000540195|ENST00000226279;ENST00000510674	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.055638	.|0.85682	.|D	.|0.000000	T|.	0.36303|.	0.0962|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29792|.	-1.0000|.	4|.	0.87932|0.02654	D|T	0|1	-22.2153|-22.2153	15.032|15.032	0.71713|0.71713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	144|189;77	.|.	ENSP00000442176:G144R|ENSP00000226279:W189X	G|W	+|+	1|2	0|0	CD38|CD38	15445004|15445004	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.095000|0.095000	0.18619|0.18619	4.837000|4.837000	0.62796|0.62796	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.398	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		26	54	0	0	0	0.760397	0	26	54				
DTX1	1840	broad.mit.edu	37	12	113532986	113532986	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr12:113532986A>G	ENST00000257600.3	+	7	2029	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	509					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGCATCGTCTATGACATCCCC	0.652																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1525-1527)tAt>tGt		deltex homolog 1 (Drosophila)							106.0	105.0	105.0					12																	113532986		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532986A>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1526A>G	12.37:g.113532986A>G	ENSP00000257600:p.Tyr509Cys					DTX1_ENST00000547974.1_3'UTR	p.Y509C	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			7	2029	+			509					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1526A>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847346	0.71603	.	.	ENSG00000135144	ENST00000257600	T	0.51817	0.69	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84421	0.0571	10	0.87932	D	0	-7.4684	12.84	0.57797	1.0:0.0:0.0:0.0	.	509	Q86Y01	DTX1_HUMAN	C	509	ENSP00000257600:Y509C	ENSP00000257600:Y509C	Y	+	2	0	DTX1	112017369	1.000000	0.71417	0.895000	0.35142	0.834000	0.47266	7.245000	0.78237	1.663000	0.50791	0.459000	0.35465	TAT		0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			21	117	0	0	0	0.706142	0	21	117				
CDH5	1003	broad.mit.edu	37	16	66422319	66422319	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:66422319G>A	ENST00000341529.3	+	4	740	c.592G>A	c.(592-594)Gag>Aag	p.E198K	CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GAAGGGGAAAGAGTATTTTGC	0.527																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(592-594)Gag>Aag		cadherin 5, type 2 (vascular endothelium)							244.0	197.0	213.0					16																	66422319		2202	4300	6502	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66422319G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.592G>A	16.37:g.66422319G>A	ENSP00000344115:p.Glu198Lys					CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	4	740	+		Ovarian(137;0.0955)	198			Cadherin 2.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.592G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049415	0.55218	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.51071	0.72	5.46	3.49	0.39957	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33990	0.0882	N	0.16567	0.415	0.54753	D	0.999988	B	0.24576	0.106	B	0.32289	0.143	T	0.25117	-1.0141	9	0.62326	D	0.03	.	10.2436	0.43328	0.1623:0.0:0.8377:0.0	.	198	P33151	CADH5_HUMAN	K	198	ENSP00000344115:E198K	ENSP00000344115:E198K	E	+	1	0	CDH5	64979820	0.973000	0.33851	0.043000	0.18650	0.932000	0.56968	2.492000	0.45311	1.296000	0.44742	0.563000	0.77884	GAG		0.527	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		23	122	0	0	0	0.681144	0	23	122				
ARIH2	10425	broad.mit.edu	37	3	49004609	49004609	+	Nonsense_Mutation	SNP	C	C	T	rs554254556	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr3:49004609C>T	ENST00000356401.4	+	6	778	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ARIH2_ENST00000449376.1_Nonsense_Mutation_p.R147*|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	147					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GCAGTTTGTGCGAAAGGAAAA	0.572																																						ENST00000356401.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(439-441)Cga>Tga		ariadne RBR E3 ubiquitin protein ligase 2							217.0	188.0	198.0					3																	49004609		2203	4300	6503	SO:0001587	stop_gained	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49004609C>T	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.439C>T	3.37:g.49004609C>T	ENSP00000348769:p.Arg147*					ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Nonsense_Mutation_p.R147*	p.R147*	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	6	778	+			147					Q9HBZ6|Q9UEM9	Nonsense_Mutation	SNP	ENST00000356401.4	37	c.439C>T	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	C	38	6.816055	0.97861	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8917	0.96932	0.0:1.0:0.0:0.0	.	.	.	.	X	147;147;146	.	.	R	+	1	2	ARIH2	48979613	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	3.552000	0.53705	2.705000	0.92388	0.591000	0.81541	CGA		0.572	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		14	145	0	0	0	0.500413	0	14	145				
SIPA1L3	23094	broad.mit.edu	37	19	38655514	38655514	+	Silent	SNP	G	G	A	rs572759177		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr19:38655514G>A	ENST00000222345.6	+	15	4685	c.4176G>A	c.(4174-4176)gcG>gcA	p.A1392A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1392					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGGACTGGCGGGGGGCAGCC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		13383	0.001		0.0	False		,,,				2504	0.0					ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(4174-4176)gcG>gcA		signal-induced proliferation-associated 1 like 3							11.0	12.0	12.0					19																	38655514		1897	3825	5722	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38655514G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4176G>A	19.37:g.38655514G>A							p.A1392A	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		15	4685	+			1392					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.4176G>A	CCDS33007.1																																																																																				0.657	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		10	26	0	0	0	0.411799	0	10	26				
SMPDL3A	10924	broad.mit.edu	37	6	123127403	123127403	+	Silent	SNP	G	G	A	rs41292582	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr6:123127403G>A	ENST00000368440.4	+	7	1122	c.945G>A	c.(943-945)gtG>gtA	p.V315V	SMPDL3A_ENST00000539041.1_Silent_p.V184V	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	315					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CTTTGTTTGTGGCTCCTGCTG	0.323													G|||	2	0.000399361	0.0	0.0	5008	,	,		16869	0.0		0.002	False		,,,				2504	0.0					ENST00000368440.4																			0				breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(943-945)gtG>gtA		sphingomyelin phosphodiesterase, acid-like 3A		G		1,4405	2.1+/-5.4	0,1,2202	111.0	110.0	110.0		945	5.8	1.0	6	dbSNP_127	110	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	SMPDL3A	NM_006714.3		0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615		315/454	123127403	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123127403G>A	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.945G>A	6.37:g.123127403G>A						SMPDL3A_ENST00000539041.1_Silent_p.V184V	p.V315V	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	7	1122	+			315					B7Z729|Q8WV13	Silent	SNP	ENST00000368440.4	37	c.945G>A	CCDS5128.1																																																																																				0.323	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		7	32	0	0	0	0.307466	0	7	32				
IPO5	3843	broad.mit.edu	37	13	98655152	98655152	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr13:98655152A>G	ENST00000490680.1	+	13	1423	c.1358A>G	c.(1357-1359)cAa>cGa	p.Q453R	IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R|IPO5_ENST00000261574.5_Missense_Mutation_p.Q471R			O00410	IPO5_HUMAN	importin 5	453					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATGGAAGACCAAGGCAATCAA	0.453																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1411-1413)cAa>cGa		importin 5							89.0	77.0	81.0					13																	98655152		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98655152A>G	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1358A>G	13.37:g.98655152A>G	ENSP00000418393:p.Gln453Arg					IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R|IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R	p.Q471R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			16	1592	+			453					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1412A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.81|15.81	2.942338|2.942338	0.53079|0.53079	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.16743	.|2.32;2.32;2.32;2.32	5.72|5.72	5.72|5.72	0.89469|0.89469	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22975|0.22975	0.0555|0.0555	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.23442	.|0.085;0.017;0.03	.|B;B;B	.|0.35770	.|0.21;0.039;0.085	T|T	0.04216|0.04216	-1.0968|-1.0968	5|10	.|0.25106	.|T	.|0.35	-17.1489|-17.1489	15.9975|15.9975	0.80262|0.80262	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|328;453;471	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	E|R	455|471;453;453;328	.|ENSP00000261574:Q471R;ENSP00000350219:Q453R;ENSP00000418393:Q453R;ENSP00000445126:Q328R	.|ENSP00000261574:Q471R	K|Q	+|+	1|2	0|0	IPO5|IPO5	97453153|97453153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.257000|9.257000	0.95545|0.95545	2.170000|2.170000	0.68504|0.68504	0.460000|0.460000	0.39030|0.39030	AAG|CAA		0.453	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		6	20	0	0	0	0.217242	0	6	20				
PRB3	5544	broad.mit.edu	37	12	11420458	11420458	+	Missense_Mutation	SNP	C	C	G	rs28435564	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr12:11420458C>G	ENST00000279573.7	-	3	860	c.725G>C	c.(724-726)cGt>cCt	p.R242P	PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	179	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCTGGACGAGGTGGGGG	0.612																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							9.0	4.0	6.0					12																	11420458		1057	1581	2638	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420458C>G			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.725G>C	12.37:g.11420458C>G	ENSP00000279573:p.Arg242Pro					PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37																																																																																						0.612	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		3	25	0	0	0	0.115264	0	3	25				
EIF2AK3	9451	broad.mit.edu	37	2	88874185	88874185	+	Splice_Site	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr2:88874185T>C	ENST00000303236.3	-	13	3117	c.2816A>G	c.(2815-2817)aAg>aGg	p.K939R	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788R|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	939	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						AATACAGACCTTGAGGTCCCT	0.488																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.e13+1		eukaryotic translation initiation factor 2-alpha kinase 3							74.0	70.0	71.0					2																	88874185		2203	4300	6503	SO:0001630	splice_region_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874185T>C	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2817+1A>G	2.37:g.88874185T>C						EIF2AK3_ENST00000419748.1_Splice_Site_p.K788_splice|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR	p.K939_splice	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	3117	-			939			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Splice_Site	SNP	ENST00000303236.3	37	c.2817_splice	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.977975	0.92982	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	D;D;D	0.90900	-2.75;-2.75;-2.75	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96685	0.8918	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97784	1.0234	10	0.87932	D	0	-13.3376	15.8817	0.79208	0.0:0.0:0.0:1.0	.	939	Q9NZJ5	E2AK3_HUMAN	R	788;939;788;818	ENSP00000408325:K788R;ENSP00000307235:K939R;ENSP00000412076:K818R	ENSP00000307235:K939R	K	-	2	0	EIF2AK3	88655300	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.156000	0.67533	0.460000	0.39030	AAG		0.488	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836	Missense_Mutation	4	17	0	0	0	0.150653	0	4	17				
SYCP1	6847	broad.mit.edu	37	1	115489915	115489915	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:115489915C>A	ENST00000369522.3	+	27	2536	c.2296C>A	c.(2296-2298)Caa>Aaa	p.Q766K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	766					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTAAGAAGCAACTTGAAAT	0.318																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2296-2298)Caa>Aaa		synaptonemal complex protein 1							65.0	69.0	67.0					1																	115489915		2203	4293	6496	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115489915C>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2296C>A	1.37:g.115489915C>A	ENSP00000358535:p.Gln766Lys					SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	p.Q766K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	27	2536	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	766					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.2296C>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503105	0.44558	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.52754	0.65;0.65;0.65	5.12	3.17	0.36434	.	0.127671	0.53938	D	0.000054	T	0.29158	0.0725	M	0.70275	2.135	0.37689	D	0.923762	B	0.15473	0.013	B	0.20384	0.029	T	0.11131	-1.0600	10	0.33940	T	0.23	-4.035	11.1718	0.48575	0.1442:0.7171:0.1388:0.0	.	766	Q15431	SYCP1_HUMAN	K	766	ENSP00000358535:Q766K;ENSP00000410011:Q766K;ENSP00000358531:Q766K	ENSP00000358531:Q766K	Q	+	1	0	SYCP1	115291438	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	1.619000	0.36965	0.621000	0.30232	0.650000	0.86243	CAA		0.318	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		12	58	1	0	1.05317e-09	0.457914	1.28212e-09	12	58				
PLEKHA4	57664	broad.mit.edu	37	19	49364696	49364696	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr19:49364696C>A	ENST00000263265.6	-	5	883	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	110	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCTCCCGGCCCATCTGGTCTA	0.612																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(328-330)Ggg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							48.0	61.0	56.0					19																	49364696		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49364696C>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.328G>T	19.37:g.49364696C>A	ENSP00000263265:p.Gly110Trp					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W	p.G110W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	5	883	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	110			PH.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.328G>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	c	19.79	3.892927	0.72524	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.75821	-0.97;-0.97	4.56	4.56	0.56223	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.424077	0.22724	N	0.056413	D	0.86698	0.5995	M	0.83603	2.65	0.32589	N	0.5275	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.89775	0.3957	10	0.87932	D	0	.	15.2385	0.73450	0.0:1.0:0.0:0.0	.	110;110	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	110	ENSP00000263265:G110W;ENSP00000347683:G110W	ENSP00000263265:G110W	G	-	1	0	PLEKHA4	54056508	0.881000	0.30235	1.000000	0.80357	0.992000	0.81027	3.609000	0.54117	2.548000	0.85928	0.457000	0.33378	GGG		0.612	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			7	78	1	0	0.0477658	0.307466	0.0534976	7	78				
SCYL2	55681	broad.mit.edu	37	12	100706228	100706228	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr12:100706228G>C	ENST00000360820.2	+	6	1086	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTGTAAAGAATGGGACCC	0.343																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(649-651)Gaa>Caa		SCY1-like 2 (S. cerevisiae)							77.0	74.0	75.0					12																	100706228		2202	4300	6502	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100706228G>C	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.649G>C	12.37:g.100706228G>C	ENSP00000354061:p.Glu217Gln						p.E217Q	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			6	1086	+			217			Protein kinase.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.649G>C	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016413	0.93404	.	.	ENSG00000136021	ENST00000549687;ENST00000548392;ENST00000258506;ENST00000360820	T;T	0.66099	-0.19;-0.19	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	L	0.47716	1.5	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.65463	-0.6162	10	0.20046	T	0.44	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	217	Q6P3W7	SCYL2_HUMAN	Q	217;44;44;217	ENSP00000448366:E217Q;ENSP00000354061:E217Q	ENSP00000258506:E44Q	E	+	1	0	SCYL2	99230359	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.624000	0.98398	2.721000	0.93114	0.655000	0.94253	GAA		0.343	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		3	41	0	0	0	0.115264	0	3	41				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	57	0	0	0	0.248553	0	4	57				
VRTN	55237	broad.mit.edu	37	14	74825501	74825501	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr14:74825501A>T	ENST00000256362.4	+	2	2256	c.2015A>T	c.(2014-2016)aAg>aTg	p.K672M		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	672					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCTACAAGGAGTTCAGT	0.567																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2014-2016)aAg>aTg		vertebrae development associated							84.0	68.0	73.0					14																	74825501		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825501A>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.2015A>T	14.37:g.74825501A>T	ENSP00000256362:p.Lys672Met						p.K672M	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	2256	+			672					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.2015A>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235891	0.79800	.	.	ENSG00000133980	ENST00000256362	T	0.61392	0.11	4.27	4.27	0.50696	.	0.000000	0.85682	U	0.000000	T	0.64897	0.2640	L	0.32530	0.975	0.52099	D	0.999945	D	0.89917	1.0	D	0.85130	0.997	T	0.68432	-0.5410	10	0.87932	D	0	-24.4381	12.1709	0.54157	1.0:0.0:0.0:0.0	.	672	Q9H8Y1	VRTN_HUMAN	M	672	ENSP00000256362:K672M	ENSP00000256362:K672M	K	+	2	0	VRTN	73895254	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.564000	0.73969	1.802000	0.52723	0.477000	0.44152	AAG		0.567	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		24	74	0	0	0	0.717897	0	24	74				
OPA1	4976	broad.mit.edu	37	3	193361334	193361334	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr3:193361334G>A	ENST00000392438.3	+	13	1464	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000361150.2_Missense_Mutation_p.M411I|OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361510.2_Missense_Mutation_p.M465I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	410	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CATCAGGCATGGCTCCTGACA	0.308																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1393-1395)atG>atA		optic atrophy 1 (autosomal dominant)							86.0	84.0	85.0					3																	193361334		2203	4299	6502	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193361334G>A	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1230G>A	3.37:g.193361334G>A	ENSP00000376233:p.Met410Ile					OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361150.2_Missense_Mutation_p.M411I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I	p.M465I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	15	1629	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		410					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1395G>A	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770527	0.90108	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1;-4.1	5.79	5.79	0.91817	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	L	0.42744	1.35	0.80722	D	1	D;D;D;D;D;D;D;D	0.69078	0.977;0.985;0.977;0.977;0.997;0.977;0.969;0.988	D;D;D;D;D;D;D;D	0.81914	0.966;0.977;0.966;0.966;0.995;0.966;0.968;0.954	D	0.97873	1.0287	10	0.87932	D	0	-20.891	18.5901	0.91208	0.0:0.0:1.0:0.0	.	374;410;392;411;428;447;429;465	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	I	447;410;465;429;428;411	ENSP00000354681:M447I;ENSP00000376233:M410I;ENSP00000355324:M465I;ENSP00000355311:M429I;ENSP00000354429:M428I;ENSP00000354781:M411I	ENSP00000354781:M411I	M	+	3	0	OPA1	194844028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.803000	0.99136	2.735000	0.93741	0.655000	0.94253	ATG		0.308	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		11	46	0	0	0	0.387290	0	11	46				
TEP1	7011	broad.mit.edu	37	14	20856080	20856080	+	Missense_Mutation	SNP	G	G	A	rs552770900		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr14:20856080G>A	ENST00000262715.5	-	18	2708	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	890					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGAAACAGGAGCCAAGGGG	0.542																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(2668-2670)Cct>Tct		telomerase-associated protein 1							95.0	91.0	92.0					14																	20856080		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20856080G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2668C>T	14.37:g.20856080G>A	ENSP00000262715:p.Pro890Ser					TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	p.P890S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	18	2708	-	all_cancers(95;0.00123)	all_lung(585;0.235)	890					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.2668C>T	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	g	9.320	1.057919	0.19987	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.48836	0.81;0.8	5.47	1.69	0.24217	.	0.235735	0.33732	N	0.004612	T	0.35508	0.0934	L	0.40543	1.245	0.26428	N	0.975984	B;B;B	0.24721	0.033;0.11;0.02	B;B;B	0.26770	0.032;0.073;0.014	T	0.22312	-1.0220	10	0.42905	T	0.14	-4.5293	8.2025	0.31432	0.3196:0.0:0.6804:0.0	.	782;240;890	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	S	890;890;782	ENSP00000262715:P890S;ENSP00000452574:P782S	ENSP00000262715:P890S	P	-	1	0	TEP1	19925920	0.720000	0.27996	0.738000	0.30950	0.395000	0.30598	0.250000	0.18235	0.048000	0.15891	-0.897000	0.02905	CCT		0.542	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		17	88	0	0	0	0.592651	0	17	88				
COL25A1	84570	broad.mit.edu	37	4	109740459	109740459	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr4:109740459T>C	ENST00000399132.1	-	36	2402	c.1872A>G	c.(1870-1872)aaA>aaG	p.K624K		NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTGGCTCCCCTTTTTCCCCCT	0.453																																						ENST00000399132.1																			0				NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49						c.(1870-1872)aaA>aaG		collagen, type XXV, alpha 1							74.0	77.0	76.0					4																	109740459		1891	4107	5998	SO:0001819	synonymous_variant	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109740459T>C	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1872A>G	4.37:g.109740459T>C							p.K624K	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	36	2402	-		Hepatocellular(203;0.217)	624			Collagen-like 7.			Silent	SNP	ENST00000399132.1	37	c.1872A>G	CCDS43258.1																																																																																				0.453	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		3	50	0	0	0	0.150653	0	3	50				
AKR7L	246181	broad.mit.edu	37	1	19597014	19597014	+	RNA	SNP	G	G	T	rs371635302	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:19597014G>T	ENST00000429712.1	-	0	557				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTTCCCAGGCGGCATAGTTGG	0.622													.|||	4	0.000798722	0.0008	0.0014	5008	,	,		19363	0.001		0.0	False		,,,				2504	0.001					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like		G		0,4406		0,0,2203	64.0	61.0	62.0			-4.4	0.0	1		62	1,8599	1.2+/-3.3	0,1,4299	no	intergenic				0,1,6502	TT,TG,GG		0.0116,0.0,0.0077			19597014	1,13005	2203	4300	6503			246181							g.chr1:19597014G>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597014G>T						AKR7L_ENST00000429712.1_RNA								0	437	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	G	4.626	0.116388	0.08881	0.0	1.16E-4	ENSG00000211454	ENST00000420396;ENST00000457194	T	0.29917	1.55	4.08	-4.41	0.03590	.	.	.	.	.	T	0.26629	0.0651	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39961	-0.9588	6	0.72032	D	0.01	.	5.8288	0.18568	0.5481:0.0:0.2165:0.2355	.	.	.	.	Q	34;102	ENSP00000406430:P34Q	ENSP00000406430:P34Q	P	-	2	0	AKR7L	19469601	0.000000	0.05858	0.040000	0.18447	0.018000	0.09664	-3.649000	0.00404	-1.157000	0.02815	-1.038000	0.02383	CCG		0.622	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	74	1	0	0.00116845	0.217242	0.00136319	3	74				
AKR7L	246181	broad.mit.edu	37	1	19597040	19597040	+	RNA	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:19597040C>T	ENST00000429712.1	-	0	531				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCAAGCTCCACGAACTTGCCC	0.617																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like																																						246181							g.chr1:19597040C>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597040C>T						AKR7L_ENST00000429712.1_RNA								0	411	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	C	4.613	0.113921	0.08831	.	.	ENSG00000211454	ENST00000429712	.	.	.	4.19	2.28	0.28536	NADP-dependent oxidoreductase domain (3);	0.240515	0.40640	N	0.001046	T	0.36496	0.0969	.	.	.	0.80722	D	1	B	0.27853	0.191	B	0.24974	0.057	T	0.14924	-1.0455	8	0.45353	T	0.12	.	3.7801	0.08677	0.0:0.5287:0.1895:0.2817	.	138	Q8NHP1	ARK74_HUMAN	M	138	.	ENSP00000411913:V138M	V	-	1	0	AKR7L	19469627	1.000000	0.71417	0.959000	0.39883	0.066000	0.16364	2.798000	0.47884	0.522000	0.28464	-0.259000	0.10710	GTG		0.617	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		4	56	0	0	0	0.184627	0	4	56				
YTHDC1	91746	broad.mit.edu	37	4	69198540	69198540	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr4:69198540T>C	ENST00000344157.4	-	6	1334	c.999A>G	c.(997-999)ttA>ttG	p.L333L	YTHDC1_ENST00000579690.1_Silent_p.L333L|YTHDC1_ENST00000355665.3_Intron	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	333					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGGAAGATGATAATTTCTCAT	0.328																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(997-999)ttA>ttG		YTH domain containing 1							99.0	89.0	93.0					4																	69198540		2202	4299	6501	SO:0001819	synonymous_variant	91746							g.chr4:69198540T>C	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.999A>G	4.37:g.69198540T>C						YTHDC1_ENST00000579690.1_Silent_p.L333L|YTHDC1_ENST00000355665.3_Intron	p.L333L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			6	1334	-			333					Q4W5Q3|Q7Z622|Q8TF35	Silent	SNP	ENST00000344157.4	37	c.999A>G	CCDS33992.1																																																																																				0.328	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		4	46	0	0	0	0.217242	0	4	46				
CPA5	93979	broad.mit.edu	37	7	129989880	129989880	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr7:129989880A>G	ENST00000485477.1	+	4	1392	c.263A>G	c.(262-264)gAa>gGa	p.E88G	CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	88						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTTTCTCTGAACTGAAAGAC	0.527																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(262-264)gAa>gGa		carboxypeptidase A5							122.0	123.0	123.0					7																	129989880		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129989880A>G	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.263A>G	7.37:g.129989880A>G	ENSP00000420237:p.Glu88Gly					CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G	p.E88G			Q8WXQ8	CBPA5_HUMAN			4	1392	+	Melanoma(18;0.0435)		88					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.263A>G	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	A	9.445	1.089116	0.20390	.	.	ENSG00000158525	ENST00000355388;ENST00000463587;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.76	3.31	0.37934	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.531074	0.17397	N	0.175697	T	0.10981	0.0268	L	0.36672	1.1	0.29566	N	0.850233	B;B	0.09022	0.002;0.001	B;B	0.12837	0.005;0.008	T	0.20638	-1.0269	9	.	.	.	.	10.0483	0.42199	0.6726:0.3274:0.0:0.0	.	88;88	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	G	88	ENSP00000347549:E88G;ENSP00000420060:E88G;ENSP00000418183:E88G;ENSP00000419025:E88G;ENSP00000420237:E88G;ENSP00000393045:E88G;ENSP00000417314:E88G;ENSP00000376907:E88G	.	E	+	2	0	CPA5	129777116	0.980000	0.34600	0.990000	0.47175	0.066000	0.16364	1.169000	0.31871	0.404000	0.25506	0.533000	0.62120	GAA		0.527	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		11	101	0	0	0	0.387290	0	11	101				
SRRM2	23524	broad.mit.edu	37	16	2817170	2817170	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:2817170C>T	ENST00000301740.8	+	11	7190	c.6641C>T	c.(6640-6642)cCg>cTg	p.P2214L	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2214	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.P2214Q(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTTCCAGCCCCGGTGCCTCTC	0.612																																						ENST00000301740.8																			1	Substitution - Missense(1)	p.P2214Q(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(6640-6642)cCg>cTg		serine/arginine repetitive matrix 2							61.0	69.0	66.0					16																	2817170		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2817170C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6641C>T	16.37:g.2817170C>T	ENSP00000301740:p.Pro2214Leu						p.P2214L	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	7190	+			2214			Ala-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.6641C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913740	0.33815	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.78481	-1.18	5.73	4.78	0.61160	.	0.093959	0.47455	N	0.000224	T	0.78496	0.4292	N	0.19112	0.55	0.44508	D	0.997451	D	0.89917	1.0	D	0.76575	0.988	T	0.80564	-0.1326	10	0.72032	D	0.01	-10.7743	10.6554	0.45671	0.0:0.9119:0.0:0.0881	.	2214	Q9UQ35	SRRM2_HUMAN	L	2214;1466	ENSP00000301740:P2214L	ENSP00000301740:P2214L	P	+	2	0	SRRM2	2757171	0.964000	0.33143	0.981000	0.43875	0.922000	0.55478	2.842000	0.48230	1.439000	0.47511	0.591000	0.81541	CCG		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			3	75	0	0	0	0.115264	0	3	75				
CYP2S1	29785	broad.mit.edu	37	19	41704492	41704492	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr19:41704492G>C	ENST00000310054.4	+	4	835	c.619G>C	c.(619-621)Ggt>Cgt	p.G207R	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	207					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGCAGCTGGTGGTACCCTGCT	0.627																																						ENST00000310054.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						c.(619-621)Ggt>Cgt		cytochrome P450, family 2, subfamily S, polypeptide 1							80.0	75.0	77.0					19																	41704492		2203	4300	6503	SO:0001583	missense	29785				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	g.chr19:41704492G>C	AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.619G>C	19.37:g.41704492G>C	ENSP00000308032:p.Gly207Arg					CYP2S1_ENST00000542619.1_Intron	p.G207R	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN			4	835	+			207					Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	c.619G>C	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	g	14.18	2.457292	0.43634	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.68181	-0.31	5.06	4.02	0.46733	.	0.540152	0.19347	U	0.116514	T	0.65637	0.2710	N	0.21097	0.63	0.19945	N	0.999949	D	0.59767	0.986	P	0.61132	0.884	T	0.56366	-0.7991	10	0.54805	T	0.06	.	9.5264	0.39167	0.099:0.0:0.901:0.0	.	207	Q96SQ9	CP2S1_HUMAN	R	207	ENSP00000308032:G207R	ENSP00000301173:G207R	G	+	1	0	CYP2S1	46396332	0.426000	0.25506	0.006000	0.13384	0.714000	0.41099	2.316000	0.43761	1.134000	0.42165	0.306000	0.20318	GGT		0.627	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			8	114	0	0	0	0.335167	0	8	114				
KRTAP4-6	81871	broad.mit.edu	37	17	39296318	39296318	+	Missense_Mutation	SNP	C	C	T	rs554116063	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr17:39296318C>T	ENST00000345847.4	-	1	421	c.422G>A	c.(421-423)cGt>cAt	p.R141H		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	141	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)		p.R141H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						gcagctgggacggcagcagGT	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		24372	0.001		0.0	False		,,,				2504	0.001					ENST00000345847.4																			1	Substitution - Missense(1)	p.R141H(1)	endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(421-423)cGt>cAt		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296318C>T	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.422G>A	17.37:g.39296318C>T	ENSP00000328270:p.Arg141His						p.R141H	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	421	-			137			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.422G>A	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	19.15	3.771633	0.69992	.	.	ENSG00000198090	ENST00000345847	T	0.01495	4.83	4.78	2.78	0.32641	.	367.945000	0.00496	U	0.000153	T	0.06554	0.0168	M	0.73962	2.25	0.09310	N	1	.	.	.	.	.	.	T	0.39901	-0.9591	8	0.54805	T	0.06	.	8.7055	0.34351	0.0:0.8116:0.0:0.1884	.	.	.	.	H	141	ENSP00000328270:R141H	ENSP00000328270:R141H	R	-	2	0	KRTAP4-6	36549844	0.000000	0.05858	0.002000	0.10522	0.924000	0.55760	-0.407000	0.07178	0.440000	0.26502	0.558000	0.71614	CGT		0.672	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	33	0	0	0	0.150653	0	3	33				
PCDH15	65217	broad.mit.edu	37	10	55587212	55587212	+	Silent	SNP	C	C	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr10:55587212C>G	ENST00000320301.6	-	32	4702	c.4308G>C	c.(4306-4308)ccG>ccC	p.P1436P	PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000373965.2_Silent_p.P1443P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P1047P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1436	Poly-Pro.				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)			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)				gcggcggcggcgggggcgCTG	0.582										HNSCC(58;0.16)																												ENST00000373965.2																			0				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						c.(4327-4329)ccG>ccC		protocadherin-related 15							31.0	40.0	37.0					10																	55587212		2202	4299	6501	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587212C>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.4308G>C	10.37:g.55587212C>G		HNSCC(58;0.16)				PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Silent_p.P1436P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000409834.1_Silent_p.P1047P	p.P1443P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4723	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1436			Poly-Pro.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.4329G>C	CCDS7248.1																																																																																				0.582	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		4	68	0	0	0	0.184627	0	4	68				
MYH9	4627	broad.mit.edu	37	22	36681972	36681972	+	Missense_Mutation	SNP	G	G	A	rs372871106		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr22:36681972G>A	ENST00000216181.5	-	36	5319	c.5089C>T	c.(5089-5091)Cgc>Tgc	p.R1697C	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1697					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGGCCTGGCGCTTGGCACGC	0.652			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(5089-5091)Cgc>Tgc		myosin, heavy chain 9, non-muscle			CYS/ARG	0,4406		0,0,2203	42.0	41.0	42.0		5089	3.9	1.0	22		42	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH9	NM_002473.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1697/1961	36681972	1,13005	2203	4300	6503	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36681972G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5089C>T	22.37:g.36681972G>A	ENSP00000216181:p.Arg1697Cys					MYH9_ENST00000475726.1_5'UTR	p.R1697C	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			36	5319	-			1697					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.5089C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766742	0.69878	0.0	1.16E-4	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	D	0.82081	-1.57	4.96	3.93	0.45458	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.91246	0.7241	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.92816	0.6268	10	0.87932	D	0	.	13.665	0.62389	0.0768:0.0:0.9232:0.0	.	1697	P35579	MYH9_HUMAN	C	1119;299;1697	ENSP00000216181:R1697C	ENSP00000216181:R1697C	R	-	1	0	MYH9	35011918	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	4.362000	0.59467	2.294000	0.77228	0.306000	0.20318	CGC		0.652	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		7	52	0	0	0	0.307466	0	7	52				
ALPP	250	broad.mit.edu	37	2	233246234	233246234	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr2:233246234C>T	ENST00000392027.2	+	11	1606	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	446					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGCAGTCAGCAGTGCCCCTG	0.667																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(1336-1338)gCa>gTa		alkaline phosphatase, placental							26.0	30.0	29.0					2																	233246234		2202	4300	6502	SO:0001583	missense	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246234C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1337C>T	2.37:g.233246234C>T	ENSP00000375881:p.Ala446Val					AC068134.8_ENST00000441266.1_RNA	p.A446V	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1606	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	446					P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	c.1337C>T	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328057	0.60743	.	.	ENSG00000163283	ENST00000392027	D	0.96940	-4.18	2.35	2.35	0.29111	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96439	0.8838	M	0.69185	2.1	0.58432	D	0.999994	D	0.64830	0.994	P	0.54965	0.765	D	0.95897	0.8912	10	0.54805	T	0.06	.	13.0087	0.58720	0.0:1.0:0.0:0.0	.	446	P05187	PPB1_HUMAN	V	446	ENSP00000375881:A446V	ENSP00000375881:A446V	A	+	2	0	ALPP	232954478	1.000000	0.71417	0.022000	0.16811	0.139000	0.21198	5.278000	0.65592	1.294000	0.44707	0.305000	0.20034	GCA		0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		10	22	0	0	0	0.435327	0	10	22				
MRC2	9902	broad.mit.edu	37	17	60741987	60741987	+	Missense_Mutation	SNP	C	C	T	rs200452538		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr17:60741987C>T	ENST00000303375.5	+	2	599	c.197C>T	c.(196-198)cCg>cTg	p.P66L	Y_RNA_ENST00000384652.1_RNA	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	66	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGAGTCACCCCGGCTTGCAAT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		19170	0.001		0.0	False		,,,				2504	0.0					ENST00000303375.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(196-198)cCg>cTg		mannose receptor, C type 2							79.0	79.0	79.0					17																	60741987		2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60741987C>T	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.197C>T	17.37:g.60741987C>T	ENSP00000307513:p.Pro66Leu						p.P66L	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			2	599	+			66			Ricin B-type lectin.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.197C>T	CCDS11634.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	12.59	1.984110	0.35036	.	.	ENSG00000011028	ENST00000303375	T	0.27890	1.64	4.7	4.7	0.59300	Ricin B-related lectin (1);Ricin B lectin (2);	0.522890	0.21494	N	0.073627	T	0.19327	0.0464	L	0.36672	1.1	0.80722	D	1	B	0.25486	0.127	B	0.15870	0.014	T	0.14254	-1.0479	10	0.37606	T	0.19	-2.4707	3.658	0.08228	0.1832:0.5741:0.1535:0.0892	.	66	Q9UBG0	MRC2_HUMAN	L	66	ENSP00000307513:P66L	ENSP00000307513:P66L	P	+	2	0	MRC2	58095719	0.081000	0.21417	0.990000	0.47175	0.956000	0.61745	1.483000	0.35497	2.450000	0.82876	0.561000	0.74099	CCG		0.632	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			4	70	0	0	0	0.184627	0	4	70				
PRKDC	5591	broad.mit.edu	37	8	48739269	48739269	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr8:48739269G>T	ENST00000314191.2	-	64	8784	c.8728C>A	c.(8728-8730)Cgt>Agt	p.R2910S	PRKDC_ENST00000338368.3_Missense_Mutation_p.R2910S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2911	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCCTTCCCACGGACTCGCTTG	0.627								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8728-8730)Cgt>Agt	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							26.0	29.0	28.0					8																	48739269		2054	4200	6254	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48739269G>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8728C>A	8.37:g.48739269G>T	ENSP00000313420:p.Arg2910Ser					PRKDC_ENST00000338368.3_Missense_Mutation_p.R2910S|PRKDC_ENST00000523565.1_5'UTR	p.R2910S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			64	8784	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2911			FAT.|KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.8728C>A		.	.	.	.	.	.	.	.	.	.	G	10.43	1.348404	0.24426	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03004	4.15;4.08	5.7	3.88	0.44766	PIK-related kinase (1);	0.159083	0.42682	D	0.000668	T	0.06781	0.0173	M	0.75264	2.295	0.48087	D	0.99958	P;B	0.39862	0.692;0.08	B;B	0.38458	0.274;0.023	T	0.34354	-0.9832	10	0.20519	T	0.43	.	13.9289	0.63981	0.0:0.0:0.6012:0.3988	.	2910;2911	E7EUY0;P78527	.;PRKDC_HUMAN	S	2910	ENSP00000313420:R2910S;ENSP00000345182:R2910S	ENSP00000313420:R2910S	R	-	1	0	PRKDC	48901822	1.000000	0.71417	0.012000	0.15200	0.144000	0.21451	4.366000	0.59492	0.727000	0.32360	0.655000	0.94253	CGT		0.627	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	26	1	0	0.0381472	0.278610	0.0435968	6	26				
MACF1	23499	broad.mit.edu	37	1	39888543	39888543	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:39888543G>C	ENST00000372915.3	+	59	16222	c.16135G>C	c.(16135-16137)Gtg>Ctg	p.V5379L	MACF1_ENST00000564288.1_Missense_Mutation_p.V5374L|MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5379					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGTATAAAGTGGTGAAAGC	0.458																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16120-16122)Gtg>Ctg		microtubule-actin crosslinking factor 1							74.0	73.0	74.0					1																	39888543		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39888543G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16135G>C	1.37:g.39888543G>C	ENSP00000362006:p.Val5379Leu					MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L	p.V5374L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		60	16897	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5379					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16120G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.932544|4.932544	0.92458|0.92458	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.50001	.|0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.56097	.|D	.|0.000030	T|T	0.66839|0.66839	0.2830|0.2830	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.54207	.|0.876;0.965;0.909	.|P;P;P	.|0.59424	.|0.613;0.857;0.731	T|T	0.66830|0.66830	-0.5824|-0.5824	5|10	.|0.72032	.|D	.|0.01	.|.	20.4043|20.4043	0.99006|0.99006	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5379;3312;3256	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	T|L	2424|3312;5379;3312;3312;3291;3814;128	.|ENSP00000439537:V3312L;ENSP00000362006:V5379L;ENSP00000354573:V3312L;ENSP00000313438:V3312L;ENSP00000444364:V3291L;ENSP00000289893:V3814L;ENSP00000433104:V128L	.|ENSP00000289893:V3814L	S|V	+|+	2|1	0|0	MACF1|MACF1	39661130|39661130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	9.864000|9.864000	0.99589|0.99589	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	AGT|GTG		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	29	0	0	0	0.184627	0	4	29				
SCGB1A1	7356	broad.mit.edu	37	11	62189705	62189705	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr11:62189705T>C	ENST00000278282.2	+	2	129	c.68T>C	c.(67-69)aTc>aCc	p.I23T	CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	23					embryo implantation (GO:0007566)|female pregnancy (GO:0007565)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of inflammatory response (GO:0050727)|regulation of mRNA stability (GO:0043488)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fibroblast growth factor (GO:0071774)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to silicon dioxide (GO:0034021)|response to xenobiotic stimulus (GO:0009410)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nuclear envelope (GO:0005635)|rough endoplasmic reticulum (GO:0005791)|secretory granule (GO:0030141)	phospholipase A2 inhibitor activity (GO:0019834)			lung(1)	1						TCTGCAGAGATCTGCCCGAGC	0.557																																						ENST00000278282.2																			0				lung(1)	1						c.(67-69)aTc>aCc		secretoglobin, family 1A, member 1 (uteroglobin)							93.0	84.0	87.0					11																	62189705		2202	4299	6501	SO:0001583	missense	7356				embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity	g.chr11:62189705T>C		CCDS8020.1	11q12.3	2011-12-14	2002-03-22	2002-03-22	ENSG00000149021	ENSG00000149021		"""Secretoglobins"""	12523	protein-coding gene	gene with protein product	"""Uteroglobin (Clara-cell specific 10-kD protein)"""	192020	"""uteroglobin"""	UGB		1284526, 22155607	Standard	NM_003357		Approved	CC10, CCSP, CC16	uc001ntj.3	P11684	OTTHUMG00000167526	ENST00000278282.2:c.68T>C	11.37:g.62189705T>C	ENSP00000278282:p.Ile23Thr					CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR	p.I23T	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN			2	129	+			23					B2R5F2|Q6FHH3|Q9UCM2|Q9UCM4	Missense_Mutation	SNP	ENST00000278282.2	37	c.68T>C	CCDS8020.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.697810	0.30142	.	.	ENSG00000149021	ENST00000278282	T	0.25085	1.82	4.73	3.6	0.41247	.	0.634499	0.13798	N	0.362043	T	0.17023	0.0409	.	.	.	0.26668	N	0.97177	B	0.18013	0.025	B	0.18263	0.021	T	0.18903	-1.0322	9	0.34782	T	0.22	-14.9	7.312	0.26479	0.0:0.1018:0.0:0.8982	.	23	P11684	UTER_HUMAN	T	23	ENSP00000278282:I23T	ENSP00000278282:I23T	I	+	2	0	SCGB1A1	61946281	0.006000	0.16342	0.387000	0.26183	0.018000	0.09664	-0.227000	0.09126	0.780000	0.33566	0.460000	0.39030	ATC		0.557	SCGB1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394925.1	NM_003357		3	65	0	0	0	0.217242	0	3	65				
LRRTM1	347730	broad.mit.edu	37	2	80529936	80529936	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr2:80529936C>T	ENST00000295057.3	-	2	1665	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	337	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAGTTGCCATCGTAGCGCCCC	0.657										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(1009-1011)Gat>Aat		leucine rich repeat transmembrane neuronal 1							29.0	27.0	27.0					2																	80529936		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529936C>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1009G>A	2.37:g.80529936C>T	ENSP00000295057:p.Asp337Asn	HNSCC(69;0.2)				LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	p.D337N	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1665	-			337			LRRCT.		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.1009G>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789431	0.90367	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.42900	0.96;0.96	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	T	0.58694	0.2140	L	0.58428	1.81	0.80722	D	1	D	0.71674	0.998	P	0.60012	0.867	T	0.56165	-0.8024	9	.	.	.	.	18.995	0.92809	0.0:1.0:0.0:0.0	.	337	Q86UE6	LRRT1_HUMAN	N	337	ENSP00000295057:D337N;ENSP00000386646:D337N	.	D	-	1	0	LRRTM1	80383447	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.808000	0.86044	2.452000	0.82932	0.655000	0.94253	GAT		0.657	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		4	22	0	0	0	0.184627	0	4	22				
ZNF33B	7582	broad.mit.edu	37	10	43088476	43088476	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr10:43088476T>A	ENST00000359467.3	-	5	2036	c.1922A>T	c.(1921-1923)gAg>gTg	p.E641V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	641					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTCCACACTCATTACATTC	0.388																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1921-1923)gAg>gTg		zinc finger protein 33B							114.0	117.0	116.0					10																	43088476		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43088476T>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1922A>T	10.37:g.43088476T>A	ENSP00000352444:p.Glu641Val					ZNF33B_ENST00000486187.1_RNA	p.E641V	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	2036	-			641					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.1922A>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984433	0.35036	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.37915	1.17	2.69	1.48	0.22813	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.234181	0.21823	N	0.068594	T	0.16811	0.0404	N	0.05124	-0.11	0.09310	N	1	B	0.31519	0.327	B	0.32928	0.155	T	0.15263	-1.0443	10	0.54805	T	0.06	.	7.2489	0.26138	0.0:0.0:0.2259:0.774	.	641	Q06732	ZN33B_HUMAN	V	641;607	ENSP00000352444:E641V	ENSP00000352444:E641V	E	-	2	0	ZNF33B	42408482	0.001000	0.12720	0.901000	0.35422	0.958000	0.62258	0.927000	0.28818	0.427000	0.26145	0.336000	0.21669	GAG		0.388	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		4	107	0	0	0	0.217242	0	4	107				
NLRP10	338322	broad.mit.edu	37	11	7982031	7982031	+	Missense_Mutation	SNP	C	C	A	rs74451065	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr11:7982031C>A	ENST00000328600.2	-	2	1289	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	376	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTAGGTGTCTCTAAGACAA	0.547																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1126-1128)gaG>gaT		NLR family, pyrin domain containing 10							93.0	67.0	76.0					11																	7982031		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982031C>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1128G>T	11.37:g.7982031C>A	ENSP00000327763:p.Glu376Asp						p.E376D	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1289	-			376			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1128G>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	6.684	0.494896	0.12702	.	.	ENSG00000182261	ENST00000328600	T	0.81163	-1.46	5.05	0.639	0.17747	.	0.190876	0.25869	N	0.027768	T	0.65428	0.2690	L	0.38531	1.155	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.47935	-0.9078	10	0.25106	T	0.35	.	5.3467	0.16014	0.0:0.4404:0.3693:0.1902	.	376	Q86W26	NAL10_HUMAN	D	376	ENSP00000327763:E376D	ENSP00000327763:E376D	E	-	3	2	NLRP10	7938607	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	-0.630000	0.05502	0.232000	0.21100	0.655000	0.94253	GAG		0.547	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		10	26	1	0	1.76689e-08	0.335167	2.10523e-08	10	26				
KAT6B	23522	broad.mit.edu	37	10	76735743	76735743	+	Missense_Mutation	SNP	A	A	T	rs543814514		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr10:76735743A>T	ENST00000287239.4	+	8	2137	c.1648A>T	c.(1648-1650)Atc>Ttc	p.I550F	KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	550	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GCTTTCTCATATCTATACCAC	0.512																																						ENST00000287239.4																			0											c.(1648-1650)Atc>Ttc		K(lysine) acetyltransferase 6B							101.0	90.0	94.0					10																	76735743		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76735743A>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1648A>T	10.37:g.76735743A>T	ENSP00000287239:p.Ile550Phe					KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron	p.I550F	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			8	2137	+			550			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.1648A>T	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.461197	0.43736	.	.	ENSG00000156650	ENST00000287239	T	0.61510	0.1	6.08	6.08	0.98989	.	0.139910	0.32204	N	0.006429	T	0.50854	0.1640	N	0.19112	0.55	0.80722	D	1	D	0.53885	0.963	P	0.49012	0.598	T	0.48581	-0.9023	9	.	.	.	-3.372	15.214	0.73250	1.0:0.0:0.0:0.0	.	550	Q8WYB5	KAT6B_HUMAN	F	550	ENSP00000287239:I550F	.	I	+	1	0	KAT6B	76405749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.564000	0.90726	2.330000	0.79161	0.533000	0.62120	ATC		0.512	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		9	59	0	0	0	0.387290	0	9	59				
SIDT1	54847	broad.mit.edu	37	3	113325954	113325954	+	Missense_Mutation	SNP	G	G	A	rs146353910	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr3:113325954G>A	ENST00000264852.4	+	15	2197	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	SIDT1_ENST00000393830.3_Missense_Mutation_p.V491I|SIDT1_ENST00000463226.1_Intron	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	491					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCCCTTGGGCGTCCTGAGGTA	0.433													G|||	4	0.000798722	0.0023	0.0	5008	,	,		22105	0.0		0.0	False		,,,				2504	0.001					ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1471-1473)Gtc>Atc		SID1 transmembrane family, member 1		G	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	109.0	91.0	97.0		1471	4.8	0.9	3	dbSNP_134	97	0,8600		0,0,4300	yes	missense	SIDT1	NM_017699.2	29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	491/828	113325954	4,13002	2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113325954G>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1471G>A	3.37:g.113325954G>A	ENSP00000264852:p.Val491Ile					SIDT1_ENST00000463226.1_Intron|SIDT1_ENST00000393830.3_Missense_Mutation_p.V491I	p.V491I	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			15	2197	+			491					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.1471G>A	CCDS2974.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	13.93	2.383501	0.42207	9.08E-4	0.0	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.22743	1.94;1.94	5.7	4.83	0.62350	.	0.290182	0.29684	N	0.011469	T	0.10121	0.0248	N	0.16790	0.44	0.42273	D	0.992067	B;B	0.19583	0.03;0.037	B;B	0.23419	0.027;0.046	T	0.08432	-1.0722	10	0.18276	T	0.48	-16.5783	14.7068	0.69198	0.0692:0.0:0.9308:0.0	.	491;491	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	I	491	ENSP00000264852:V491I;ENSP00000377416:V491I	ENSP00000264852:V491I	V	+	1	0	SIDT1	114808644	1.000000	0.71417	0.919000	0.36401	0.995000	0.86356	4.200000	0.58433	1.417000	0.47077	0.655000	0.94253	GTC		0.433	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		3	58	0	0	0	0.150653	0	3	58				
FAM174B	400451	broad.mit.edu	37	15	93173520	93173520	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr15:93173520C>G	ENST00000327355.5	-	2	698	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	134						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						TCCACTCGCTCTGCTGGAGTG	0.478																																						ENST00000327355.5																			0				endometrium(2)|lung(1)	3						c.(400-402)Gag>Cag		family with sequence similarity 174, member B							121.0	119.0	120.0					15																	93173520		2106	4220	6326	SO:0001583	missense	400451					integral to membrane		g.chr15:93173520C>G		CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.400G>C	15.37:g.93173520C>G	ENSP00000329040:p.Glu134Gln					FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR	p.E134Q	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN			2	698	-			134					Q3ZCR9|Q8NBH7	Missense_Mutation	SNP	ENST00000327355.5	37	c.400G>C	CCDS45355.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322435	0.81580	.	.	ENSG00000185442	ENST00000327355	T	0.54071	0.59	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.72779	0.3503	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75701	-0.3226	10	0.87932	D	0	-32.414	17.8724	0.88815	0.0:1.0:0.0:0.0	.	134	Q3ZCQ3	F174B_HUMAN	Q	134	ENSP00000329040:E134Q	ENSP00000329040:E134Q	E	-	1	0	FAM174B	90974524	1.000000	0.71417	0.894000	0.35097	0.520000	0.34377	6.837000	0.75354	2.525000	0.85131	0.591000	0.81541	GAG		0.478	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		8	26	0	0	0	0.307466	0	8	26				
RYR2	6262	broad.mit.edu	37	1	237753955	237753955	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:237753955G>A	ENST00000366574.2	+	31	4140	c.3823G>A	c.(3823-3825)Ggc>Agc	p.G1275S	RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1275	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.G1273R(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)			CAGAATAGACGGCACCATAGA	0.423																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.G1273R(1)	lung(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						c.(3823-3825)Ggc>Agc		ryanodine receptor 2 (cardiac)							187.0	179.0	182.0					1																	237753955		1953	4142	6095	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.chr1:237753955G>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.3823G>A	1.37:g.237753955G>A	ENSP00000355533:p.Gly1275Ser					RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S	p.G1275S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4140	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1275			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3823G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	g	20.4	3.989559	0.74589	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96774	-4.12;-4.1;-4.11	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000015	D	0.95771	0.8624	M	0.73962	2.25	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	D	0.93296	0.6672	10	0.72032	D	0.01	.	18.915	0.92501	0.0:0.0:1.0:0.0	.	1275	Q92736	RYR2_HUMAN	S	1275;1273;1259	ENSP00000355533:G1275S;ENSP00000353174:G1273S;ENSP00000443798:G1259S	ENSP00000353174:G1273S	G	+	1	0	RYR2	235820578	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.597000	0.98273	2.777000	0.95525	0.655000	0.94253	GGC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	105	0	0	0	0.592651	0	19	105				
ADAD2	161931	broad.mit.edu	37	16	84229221	84229221	+	Missense_Mutation	SNP	G	G	A	rs201035894		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:84229221G>A	ENST00000315906.5	+	6	1022	c.970G>A	c.(970-972)Gga>Aga	p.G324R	RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.G406R|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	324	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCCAGGGCCCGGACCCCCATT	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		14356	0.0		0.001	False		,,,				2504	0.0					ENST00000268624.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(1216-1218)Gga>Aga		adenosine deaminase domain containing 2							22.0	28.0	26.0					16																	84229221		2200	4298	6498	SO:0001583	missense	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84229221G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.970G>A	16.37:g.84229221G>A	ENSP00000325153:p.Gly324Arg					ADAD2_ENST00000315906.5_Missense_Mutation_p.G324R|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	p.G406R	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			7	1309	+			324			A to I editase.		B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	37	c.1216G>A	CCDS45536.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.407	1.079428	0.20227	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93859	-3.3;-3.3	4.92	3.93	0.45458	Adenosine deaminase/editase (2);	0.201974	0.44285	D	0.000473	D	0.92632	0.7659	M	0.81802	2.56	0.36445	D	0.86572	P;D	0.56968	0.506;0.978	B;B	0.43194	0.146;0.411	D	0.93852	0.7146	10	0.87932	D	0	-20.6296	10.6906	0.45869	0.0:0.0:0.8086:0.1914	.	324;406	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	R	324;406	ENSP00000325153:G324R;ENSP00000268624:G406R	ENSP00000268624:G406R	G	+	1	0	ADAD2	82786722	0.958000	0.32768	0.687000	0.30102	0.027000	0.11550	1.728000	0.38105	1.151000	0.42436	0.555000	0.69702	GGA		0.687	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		4	29	0	0	0	0.150653	0	4	29				
FLI1	2313	broad.mit.edu	37	11	128680431	128680431	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr11:128680431G>A	ENST00000527786.2	+	9	1396	c.907G>A	c.(907-909)Gag>Aag	p.E303K	FLI1_ENST00000344954.6_Missense_Mutation_p.E270K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	303					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TATCACCTGGGAGGGGACCAA	0.617			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(808-810)Gag>Aag		Fli-1 proto-oncogene, ETS transcription factor							19.0	22.0	21.0					11																	128680431		2186	4293	6479	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680431G>A	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.907G>A	11.37:g.128680431G>A	ENSP00000433488:p.Glu303Lys					FLI1_ENST00000429175.2_Missense_Mutation_p.E303K|FLI1_ENST00000534087.1_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K	p.E270K			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1196	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	303					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.808G>A	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977028	0.92982	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.216108	0.47852	D	0.000201	T	0.75236	0.3822	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;D	0.91635	0.997;0.999;0.911	T	0.77517	-0.2558	10	0.87932	D	0	.	19.6722	0.95915	0.0:0.0:1.0:0.0	.	303;110;237	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	K	110;270;303;270;237	ENSP00000437124:E110K;ENSP00000339627:E270K;ENSP00000399985:E303K;ENSP00000432950:E270K;ENSP00000281428:E237K	ENSP00000281428:E237K	E	+	1	0	FLI1	128185641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.656000	0.90262	0.585000	0.79938	GAG		0.617	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		3	9	0	0	0	0.115264	0	3	9				
CABP1	9478	broad.mit.edu	37	12	121094004	121094004	+	Intron	SNP	G	G	A	rs202143699		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr12:121094004G>A	ENST00000316803.3	+	2	788				CABP1_ENST00000453000.1_Missense_Mutation_p.A131T|CABP1_ENST00000288616.3_Missense_Mutation_p.A52T|CABP1_ENST00000351200.2_Intron	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1						negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGAACTGCGCAGTCATGCA	0.647																																						ENST00000453000.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9						c.(391-393)Gca>Aca		calcium binding protein 1		G	,,THR/ALA	0,4406		0,0,2203	33.0	31.0	32.0		,,154	5.8	0.8	12		32	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	CABP1	NM_001033677.1,NM_004276.3,NM_031205.2	,,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,,52/228	121094004	1,13005	2203	4300	6503	SO:0001627	intron_variant	9478					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding	g.chr12:121094004G>A	AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"""EF-hand domain containing"""	1384	protein-coding gene	gene with protein product	"""calbrain"", ""caldendrin"""	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.655-3677G>A	12.37:g.121094004G>A						CABP1_ENST00000288616.3_Missense_Mutation_p.A52T|CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron	p.A131T			Q9NZU7	CABP1_HUMAN			1	903	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		0			Pro-rich.		O95663|Q8N6H5|Q9NZU8	Missense_Mutation	SNP	ENST00000316803.3	37	c.391G>A	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518952	0.64634	0.0	1.16E-4	ENSG00000157782	ENST00000288616;ENST00000453000	T;T	0.73681	-0.61;-0.77	5.82	5.82	0.92795	.	.	.	.	.	T	0.59838	0.2223	N	0.11201	0.11	0.34756	D	0.732245	B;B	0.26876	0.162;0.043	B;B	0.19946	0.027;0.003	T	0.61955	-0.6956	9	0.30854	T	0.27	.	20.089	0.97809	0.0:0.0:1.0:0.0	.	131;52	C9J8G2;Q9NZU7-1	.;.	T	52;131	ENSP00000288616:A52T;ENSP00000398959:A131T	ENSP00000288616:A52T	A	+	1	0	CABP1	119578387	1.000000	0.71417	0.828000	0.32881	0.975000	0.68041	6.017000	0.70805	2.765000	0.95021	0.591000	0.81541	GCA		0.647	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	NM_001033677		3	39	0	0	0	0.115264	0	3	39				
ZFHX3	463	broad.mit.edu	37	16	72830348	72830348	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:72830348G>A	ENST00000268489.5	-	9	6905	c.6233C>T	c.(6232-6234)cCg>cTg	p.P2078L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1164L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2078					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGCTGGGCCGGTGCAATTGT	0.672																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(6232-6234)cCg>cTg		zinc finger homeobox 3							68.0	58.0	61.0					16																	72830348		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830348G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6233C>T	16.37:g.72830348G>A	ENSP00000268489:p.Pro2078Leu					ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1164L	p.P2078L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6905	-		Ovarian(137;0.13)	2078					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6233C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073200	0.36566	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74106	-0.81;-0.8	5.4	5.4	0.78164	.	0.000000	0.46442	D	0.000289	T	0.67144	0.2862	L	0.36672	1.1	0.80722	D	1	B	0.30211	0.273	B	0.22753	0.041	T	0.66308	-0.5956	10	0.51188	T	0.08	.	19.1839	0.93635	0.0:0.0:1.0:0.0	.	2078	Q15911	ZFHX3_HUMAN	L	2078;1164	ENSP00000268489:P2078L;ENSP00000438926:P1164L	ENSP00000268489:P2078L	P	-	2	0	ZFHX3	71387849	1.000000	0.71417	0.048000	0.18961	0.020000	0.10135	7.882000	0.87258	2.523000	0.85059	0.655000	0.94253	CCG		0.672	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	93	0	0	0	0.115264	0	3	93				
OBSCN	84033	broad.mit.edu	37	1	228487672	228487672	+	Intron	SNP	G	G	A	rs55939441		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:228487672G>A	ENST00000422127.1	+	43	11703				OBSCN_ENST00000366707.4_Missense_Mutation_p.A1212T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A4522T|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000602685.1_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAAAGGCGGCCCCCGTGGA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18327	0.0		0.001	False		,,,				2504	0.0					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13564-13566)Gcc>Acc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	,	0,1752		0,0,876	110.0	101.0	104.0		,	3.4	0.7	1	dbSNP_129	104	7,3975		0,7,1984	no	intron,intron	OBSCN	NM_001098623.1,NM_052843.2	,	0,7,2860	AA,AG,GG		0.1758,0.0,0.1221	,	,	228487672	7,5727	876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228487672G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11659+4928G>A	1.37:g.228487672G>A						OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1212T	p.A4522T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			51	13638	+		Prostate(94;0.0405)	3565					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.13564G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684839	0.88639	0.0	0.001758	ENSG00000154358	ENST00000366707	T	0.66995	-0.24	4.37	3.43	0.39272	.	.	.	.	.	T	0.73931	0.3650	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74318	-0.3704	6	0.45353	T	0.12	.	13.4522	0.61178	0.0:0.0:0.8419:0.1581	rs55939441	.	.	.	T	1212	ENSP00000355668:A1212T	ENSP00000355668:A1212T	A	+	1	0	OBSCN	226554295	0.947000	0.32204	0.658000	0.29665	0.707000	0.40811	4.586000	0.60984	0.987000	0.38709	0.561000	0.74099	GCC		0.557	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		3	67	0	0	0	0.115264	0	3	67				
NLGN1	22871	broad.mit.edu	37	3	173322456	173322456	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr3:173322456G>A	ENST00000457714.1	+	3	497	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	NLGN1_ENST00000545397.1_Missense_Mutation_p.R23Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R23Q|NLGN1_ENST00000401917.3_Missense_Mutation_p.R23Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	23					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|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)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.R23L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGGTACACCGGGGATTGGGT	0.507																																						ENST00000457714.1																			2	Substitution - Missense(2)	p.R23L(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(67-69)cGg>cAg		neuroligin 1							209.0	190.0	196.0					3																	173322456		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322456G>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.68G>A	3.37:g.173322456G>A	ENSP00000392500:p.Arg23Gln					NLGN1_ENST00000361589.4_Missense_Mutation_p.R23Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R23Q|NLGN1_ENST00000401917.3_Missense_Mutation_p.R23Q	p.R23Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	497	+	Ovarian(172;0.0025)		23					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.68G>A	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	6.074	0.381872	0.11524	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.70749	-0.18;-0.18;-0.51;-0.18;-0.19	5.62	3.51	0.40186	.	0.305841	0.27284	N	0.020077	T	0.43010	0.1228	N	0.14661	0.345	0.18873	N	0.999989	B;B	0.25772	0.054;0.134	B;B	0.15870	0.005;0.014	T	0.12734	-1.0536	10	0.12430	T	0.62	.	3.2497	0.06810	0.0839:0.2085:0.4264:0.2811	.	23;23	D2X2H5;Q8N2Q7-2	.;.	Q	23	ENSP00000392500:R23Q;ENSP00000354541:R23Q;ENSP00000410374:R23Q;ENSP00000441108:R23Q;ENSP00000385750:R23Q	ENSP00000354541:R23Q	R	+	2	0	NLGN1	174805150	0.867000	0.29959	0.988000	0.46212	0.362000	0.29581	0.733000	0.26087	1.351000	0.45789	0.467000	0.42956	CGG		0.507	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		27	84	0	0	0	0.693898	0	27	84				
RAG1	5896	broad.mit.edu	37	11	36596041	36596041	+	Missense_Mutation	SNP	G	G	A	rs104894291		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr11:36596041G>A	ENST00000299440.5	+	2	1299	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	396			R -> C (in OS; dbSNP:rs104894289). {ECO:0000269|PubMed:10606976, ECO:0000269|PubMed:9630231}.|R -> H (in OS; dbSNP:rs104894291). {ECO:0000269|PubMed:19912631, ECO:0000269|PubMed:9630231}.|R -> L (in OS; dbSNP:rs104894291). {ECO:0000269|PubMed:11133745}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R396H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGCCGGCCCCGCCAACATCTT	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			1	Substitution - Missense(1)	p.R396H(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	GRCh37	CM010067|CM981691	RAG1	M	rs104894291	c.(1186-1188)cGc>cAc		recombination activating gene 1		G	HIS/ARG	0,4404		0,0,2202	40.0	47.0	45.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1187	5.6	1.0	11	dbSNP_132	45	2,8594	2.2+/-6.3	0,2,4296	yes	missense	RAG1	NM_000448.2	29	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	396/1044	36596041	2,12998	2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596041G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1187G>A	11.37:g.36596041G>A	ENSP00000299440:p.Arg396His						p.R396H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	1299	+	all_lung(20;0.226)	all_hematologic(20;0.107)	396		R -> C (in OS).|R -> H (in OS).|R -> L (in OS).			E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1187G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570436	0.86542	0.0	2.33E-4	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73681	-0.77;-0.76	5.64	5.64	0.86602	RAG nonamer-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87561	0.6208	M	0.81239	2.535	0.80722	A	1	D	0.76494	0.999	D	0.76575	0.988	D	0.88462	0.3056	9	0.87932	D	0	.	19.7762	0.96393	0.0:0.0:1.0:0.0	.	396	P15918	RAG1_HUMAN	H	396	ENSP00000434610:R396H;ENSP00000299440:R396H	ENSP00000299440:R396H	R	+	2	0	RAG1	36552617	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	CGC		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		3	66	0	0	0	0.115264	0	3	66				
ZBBX	79740	broad.mit.edu	37	3	167000276	167000276	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr3:167000276T>C	ENST00000392766.2	-	19	2227	c.1887A>G	c.(1885-1887)aaA>aaG	p.K629K	ZBBX_ENST00000392767.2_Silent_p.K629K|ZBBX_ENST00000307529.5_Silent_p.K668K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	629						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			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						GTCTCTGTGATTTCTGACCTA	0.353																																						ENST00000392766.2																			0				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						c.(1885-1887)aaA>aaG		zinc finger, B-box domain containing							97.0	95.0	96.0					3																	167000276		1807	4061	5868	SO:0001819	synonymous_variant	79740					intracellular	zinc ion binding	g.chr3:167000276T>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.1887A>G	3.37:g.167000276T>C						ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000307529.5_Silent_p.K668K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392767.2_Silent_p.K629K	p.K629K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			19	2227	-			629					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	c.1887A>G	CCDS3199.2																																																																																				0.353	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		3	70	0	0	0	0.150653	0	3	70				
CD38	952	broad.mit.edu	37	4	15835906	15835906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr4:15835906G>A	ENST00000226279.3	+	4	703	c.566G>A	c.(565-567)tGg>tAg	p.W189*		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	189					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TCAGTATTCTGGAAAACGGTT	0.398																																						ENST00000226279.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(565-567)tGg>tAg		CD38 molecule							82.0	80.0	81.0					4																	15835906		2203	4300	6503	SO:0001587	stop_gained	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15835906G>A	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.566G>A	4.37:g.15835906G>A	ENSP00000226279:p.Trp189*						p.W189*	NM_001775.2	NP_001766.2	P28907	CD38_HUMAN			4	703	+			189					O00121|O00122|Q96HY4	Nonsense_Mutation	SNP	ENST00000226279.3	37	c.566G>A	CCDS3417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.06|14.06	2.421318|2.421318	0.42918|0.42918	.|.	.|.	ENSG00000004468|ENSG00000004468	ENST00000540195|ENST00000226279;ENST00000510674	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.055638	.|0.85682	.|D	.|0.000000	T|.	0.36303|.	0.0962|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29792|.	-1.0000|.	4|.	0.87932|0.02654	D|T	0|1	-22.2153|-22.2153	15.032|15.032	0.71713|0.71713	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	144|189;77	.|.	ENSP00000442176:G144R|ENSP00000226279:W189X	G|W	+|+	1|2	0|0	CD38|CD38	15445004|15445004	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.095000|0.095000	0.18619|0.18619	4.837000|4.837000	0.62796|0.62796	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.398	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		26	54	0	0	0	0.760397	0	26	54				
CLCNKB	1188	broad.mit.edu	37	1	16375645	16375646	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:16375645_16375646delCC	ENST00000375679.4	+	8	797_798	c.686_687delCC	c.(685-687)tccfs	p.S229fs	CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	229					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GTCATGTCTTCCCACTTCTCTG	0.634																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(685-687)tfs		chloride channel, voltage-sensitive Kb																																				SO:0001589	frameshift_variant	1188							g.chr1:16375645_16375646delCC	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.686_687delCC	1.37:g.16375645_16375646delCC	ENSP00000364831:p.Ser229fs					CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	p.S229fs	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	8	797_798	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Frame_Shift_Del	DEL	ENST00000375679.4	37	c.686_687delCC	CCDS168.1																																																																																				0.634	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		23	131						23	131	---	---	---	---
GRK6	2870	broad.mit.edu	37	5	176863219	176863221	+	In_Frame_Del	DEL	GAA	GAA	-	rs76969408		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr5:176863219_176863221delGAA	ENST00000355472.5	+	12	1371_1373	c.1203_1205delGAA	c.(1201-1206)gtgaag>gtg	p.K402del	PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000507633.1_In_Frame_Del_p.K402del|GRK6_ENST00000528793.1_In_Frame_Del_p.K402del|GRK6_ENST00000393576.3_In_Frame_Del_p.K368del|GRK6_ENST00000355958.5_In_Frame_Del_p.K402del	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	402	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.K402delK(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGCTGGTGAAGGAGGTCCCC	0.645																																						ENST00000355472.5																			1	Deletion - In frame(1)	p.K402delK(1)	large_intestine(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(1201-1206)gtg>gt		G protein-coupled receptor kinase 6																																				SO:0001651	inframe_deletion	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176863219_176863221delGAA		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1203_1205delGAA	5.37:g.176863219_176863221delGAA	ENSP00000347655:p.Lys402del					GRK6_ENST00000393576.3_In_Frame_Del_p.VK367del|GRK6_ENST00000528793.1_In_Frame_Del_p.VK401del|GRK6_ENST00000355958.5_In_Frame_Del_p.VK401del|GRK6_ENST00000507633.1_In_Frame_Del_p.VK401del	p.VK401del	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1371_1373	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	401			Protein kinase.		O60541|Q13652	In_Frame_Del	DEL	ENST00000355472.5	37	c.1203_1205delGAA	CCDS34303.1																																																																																				0.645	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		9	134						9	134	---	---	---	---
C6orf10	10665	broad.mit.edu	37	6	32260980	32260982	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr6:32260980_32260982delCTT	ENST00000447241.2	-	23	1640_1642	c.1468_1470delAAG	c.(1468-1470)aagdel	p.K490del	C6orf10_ENST00000527965.1_In_Frame_Del_p.K474del|C6orf10_ENST00000375007.4_In_Frame_Del_p.K488del|C6orf10_ENST00000533191.1_In_Frame_Del_p.K488del|C6orf10_ENST00000375015.4_In_Frame_Del_p.K489del|C6orf10_ENST00000442822.2_Intron	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	490	Lys-rich.					integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CAAAACTCTCCTTCTTTTCTTGG	0.379																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(1465-1467)del		chromosome 6 open reading frame 10																																				SO:0001651	inframe_deletion	10665					integral to membrane		g.chr6:32260980_32260982delCTT	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1468_1470delAAG	6.37:g.32260983_32260985delCTT	ENSP00000415517:p.Lys490del					C6orf10_ENST00000527965.1_In_Frame_Del_p.K474del|C6orf10_ENST00000447241.2_In_Frame_Del_p.K490del|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000375007.4_In_Frame_Del_p.K488del|C6orf10_ENST00000533191.1_In_Frame_Del_p.K488del	p.K489del			Q5SRN2	CF010_HUMAN			26	1665_1667	-			490			Lys-rich.		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	In_Frame_Del	DEL	ENST00000447241.2	37	c.1465_1467delAAG	CCDS34422.1																																																																																				0.379	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		23	100						23	100	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52359596	52359596	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr8:52359596delT	ENST00000356297.4	-	12	1593	c.1493delA	c.(1492-1494)aagfs	p.K498fs	PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	498	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAGACACCTTTTTCACCCC	0.448																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1492-1494)agfs		peroxidasin homolog (Drosophila)-like							169.0	167.0	167.0					8																	52359596		2017	4175	6192	SO:0001589	frameshift_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52359596delT		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1493delA	8.37:g.52359596delT	ENSP00000348645:p.Lys498fs					PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs	p.K498fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			12	1593	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	498			Ig-like C2-type 3.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Frame_Shift_Del	DEL	ENST00000356297.4	37	c.1493delA	CCDS47855.1																																																																																				0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		8	241						8	241	---	---	---	---
RP11-867G2.8	0	broad.mit.edu	37	11	94373825	94373827	+	RNA	DEL	ACC	ACC	-	rs112219584|rs67430550	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:94373825_94373827delACC	ENST00000536540.1	-	0	437				RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.6_ENST00000544019.1_lincRNA|RP11-867G2.5_ENST00000438416.2_lincRNA																							tgcttggaagaccaccaccacca	0.557														1971	0.39357	0.4448	0.428	5008	,	,		8367	0.3343		0.3708	False		,,,				2504	0.3845					ENST00000536540.1																			0																																																			0							g.chr11:94373825_94373827delACC																													11.37:g.94373834_94373836delACC						RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.5_ENST00000438416.2_lincRNA								0	437	-									RNA	DEL	ENST00000536540.1	37																																																																																						0.557	RP11-867G2.8-001	KNOWN	basic	antisense	antisense	OTTHUMT00000396436.1			3	6						3	6	---	---	---	---
RP11-159L20.2	0	broad.mit.edu	37	14	31291081	31291082	+	RNA	INS	-	-	A	rs111525555|rs377310507|rs538462736|rs553783936	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:31291081_31291082insA	ENST00000554665.1	-	0	208																											AAATTAAAAAGAAAAAAAAAAC	0.312																																						ENST00000554665.1																			0																																																			0							g.chr14:31291081_31291082insA																													14.37:g.31291091_31291091dupA														0	208	-									RNA	INS	ENST00000554665.1	37																																																																																						0.312	RP11-159L20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000409699.1			2	4						2	4	---	---	---	---
FOXF1	2294	broad.mit.edu	37	16	86544211	86544213	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:86544211_86544213delCGG	ENST00000262426.4	+	1	79_81	c.36_38delCGG	c.(34-39)cacggc>cac	p.G23del	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	23					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						AGCCACCGCAcggcggcggcggc	0.803																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(34-39)cac>ca		forkhead box F1				6,174		2,2,86						1.8	1.0			1	27,779		7,13,383	no	coding	FOXF1	NM_001451.2		9,15,469	A1A1,A1R,RR		3.3499,3.3333,3.3469				33,953				SO:0001651	inframe_deletion	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544211_86544213delCGG	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.36_38delCGG	16.37:g.86544220_86544222delCGG	ENSP00000262426:p.Gly23del						p.HG12del	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	79_81	+			12					B2RAF4|Q5FWE5	In_Frame_Del	DEL	ENST00000262426.4	37	c.36_38delCGG	CCDS10957.2																																																																																				0.803	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		2	4						2	4	---	---	---	---
C19orf33	64073	broad.mit.edu	37	19	38795581	38795583	+	In_Frame_Del	DEL	AAG	AAG	-	rs201974576	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:38795581_38795583delAAG	ENST00000301246.5	+	4	399_401	c.298_300delAAG	c.(298-300)aagdel	p.K102del	C19orf33_ENST00000588605.1_3'UTR	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	chromosome 19 open reading frame 33	102						nucleus (GO:0005634)						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ggagaagggcaagaagaaggagG	0.596														137	0.0273562	0.0401	0.0159	5008	,	,		18521	0.0		0.0378	False		,,,				2504	0.0358					ENST00000301246.5																			0											c.(298-300)del		chromosome 19 open reading frame 33			,,,,,,,	194,4058		3,188,1935					,,,,,,,	-6.4	0.0		dbSNP_114	84	327,7919		6,315,3802	no	utr-3,coding,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3	C19orf33,YIF1B	NM_033557.3,NM_033520.1,NM_001145463.1,NM_001145462.1,NM_001145461.1,NM_001039673.2,NM_001039672.2,NM_001039671.2	,,,,,,,	9,503,5737	A1A1,A1R,RR		3.9656,4.5626,4.1687	,,,,,,,	,,,,,,,		521,11977				SO:0001651	inframe_deletion	64073					nucleus		g.chr19:38795581_38795583delAAG	AF213678	CCDS12511.1	19q13.2	2012-10-26			ENSG00000167644	ENSG00000167644			16668	protein-coding gene	gene with protein product	"""immortalization-upregulated protein"", ""HAI-2 related small protein"", ""hepatocyte growth factor activator inhibitor type 2-related small protein"""					11080599	Standard	NM_033520		Approved	IMUP-1, IMUP-2, H2RSP, IMUP	uc002ohu.1	Q9GZP8	OTTHUMG00000181894	ENST00000301246.5:c.298_300delAAG	19.37:g.38795587_38795589delAAG	ENSP00000301246:p.Lys102del					C19orf33_ENST00000588605.1_3'UTR	p.K102del	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		4	399_401	+	all_cancers(60;1.07e-06)		102					Q0P6G2|Q96H58|Q9HCR4	In_Frame_Del	DEL	ENST00000301246.5	37	c.298_300delAAG	CCDS12511.1																																																																																				0.596	C19orf33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458168.1	NM_033520		9	5						9	5	---	---	---	---
CLCNKB	1188	broad.mit.edu	37	1	16375645	16375646	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr1:16375645_16375646delCC	ENST00000375679.4	+	8	797_798	c.686_687delCC	c.(685-687)tccfs	p.S229fs	CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	229					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GTCATGTCTTCCCACTTCTCTG	0.634																																						ENST00000375679.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21						c.(685-687)tfs		chloride channel, voltage-sensitive Kb																																				SO:0001589	frameshift_variant	1188							g.chr1:16375645_16375646delCC	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.686_687delCC	1.37:g.16375645_16375646delCC	ENSP00000364831:p.Ser229fs					CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	p.S229fs	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	8	797_798	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Frame_Shift_Del	DEL	ENST00000375679.4	37	c.686_687delCC	CCDS168.1																																																																																				0.634	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		23	131						23	131	---	---	---	---
RP11-159L20.2	0	broad.mit.edu	37	14	31291081	31291082	+	RNA	INS	-	-	A	rs111525555|rs377310507|rs538462736|rs553783936	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr14:31291081_31291082insA	ENST00000554665.1	-	0	208																											AAATTAAAAAGAAAAAAAAAAC	0.312																																						ENST00000554665.1																			0																																																			0							g.chr14:31291081_31291082insA																													14.37:g.31291091_31291091dupA														0	208	-									RNA	INS	ENST00000554665.1	37																																																																																						0.312	RP11-159L20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000409699.1			2	4						2	4	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66422312	66422312	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:66422312delG	ENST00000341529.3	+	4	733	c.585delG	c.(583-585)aagfs	p.K195fs	CDH5_ENST00000563425.2_Frame_Shift_Del_p.K195fs	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AAATCCTGAAGGGGAAAGAGT	0.517																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(583-585)aafs		cadherin 5, type 2 (vascular endothelium)							238.0	192.0	208.0					16																	66422312		2202	4300	6502	SO:0001589	frameshift_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66422312delG	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.585delG	16.37:g.66422312delG	ENSP00000344115:p.Lys195fs					CDH5_ENST00000563425.2_Frame_Shift_Del_p.K195fs	p.K195fs	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	4	733	+		Ovarian(137;0.0955)	195			Cadherin 2.		Q4VAI5|Q4VAI6	Frame_Shift_Del	DEL	ENST00000341529.3	37	c.585delG	CCDS10804.1																																																																																				0.517	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		26	159						26	159	---	---	---	---
LINC01229	101928248	broad.mit.edu	37	16	79756932	79756934	+	lincRNA	DEL	TGG	TGG	-	rs397803293|rs140929970|rs59942846		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:79756932_79756934delTGG	ENST00000561510.1	+	0	361																											atgatggtgatggtggtggtggt	0.567																																						ENST00000561510.1																			0																																																			0							g.chr16:79756932_79756934delTGG																													16.37:g.79756941_79756943delTGG														0	361	+									RNA	DEL	ENST00000561510.1	37																																																																																						0.567	RP11-345M22.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000434548.1			3	5						3	5	---	---	---	---
FOXF1	2294	broad.mit.edu	37	16	86544211	86544213	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:86544211_86544213delCGG	ENST00000262426.4	+	1	79_81	c.36_38delCGG	c.(34-39)cacggc>cac	p.G23del	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	23					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						AGCCACCGCAcggcggcggcggc	0.803																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(34-39)cac>ca		forkhead box F1				6,174		2,2,86						1.8	1.0			1	27,779		7,13,383	no	coding	FOXF1	NM_001451.2		9,15,469	A1A1,A1R,RR		3.3499,3.3333,3.3469				33,953				SO:0001651	inframe_deletion	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544211_86544213delCGG	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.36_38delCGG	16.37:g.86544220_86544222delCGG	ENSP00000262426:p.Gly23del						p.HG12del	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			1	79_81	+			12					B2RAF4|Q5FWE5	In_Frame_Del	DEL	ENST00000262426.4	37	c.36_38delCGG	CCDS10957.2																																																																																				0.803	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		2	4						2	4	---	---	---	---
C19orf33	64073	broad.mit.edu	37	19	38795581	38795583	+	In_Frame_Del	DEL	AAG	AAG	-	rs201974576	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr19:38795581_38795583delAAG	ENST00000301246.5	+	4	399_401	c.298_300delAAG	c.(298-300)aagdel	p.K102del	C19orf33_ENST00000588605.1_3'UTR	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	chromosome 19 open reading frame 33	102						nucleus (GO:0005634)						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ggagaagggcaagaagaaggagG	0.596														137	0.0273562	0.0401	0.0159	5008	,	,		18521	0.0		0.0378	False		,,,				2504	0.0358					ENST00000301246.5																			0											c.(298-300)del		chromosome 19 open reading frame 33			,,,,,,,	194,4058		3,188,1935					,,,,,,,	-6.4	0.0		dbSNP_114	84	327,7919		6,315,3802	no	utr-3,coding,utr-3,utr-3,utr-3,utr-3,utr-3,utr-3	C19orf33,YIF1B	NM_033557.3,NM_033520.1,NM_001145463.1,NM_001145462.1,NM_001145461.1,NM_001039673.2,NM_001039672.2,NM_001039671.2	,,,,,,,	9,503,5737	A1A1,A1R,RR		3.9656,4.5626,4.1687	,,,,,,,	,,,,,,,		521,11977				SO:0001651	inframe_deletion	64073					nucleus		g.chr19:38795581_38795583delAAG	AF213678	CCDS12511.1	19q13.2	2012-10-26			ENSG00000167644	ENSG00000167644			16668	protein-coding gene	gene with protein product	"""immortalization-upregulated protein"", ""HAI-2 related small protein"", ""hepatocyte growth factor activator inhibitor type 2-related small protein"""					11080599	Standard	NM_033520		Approved	IMUP-1, IMUP-2, H2RSP, IMUP	uc002ohu.1	Q9GZP8	OTTHUMG00000181894	ENST00000301246.5:c.298_300delAAG	19.37:g.38795587_38795589delAAG	ENSP00000301246:p.Lys102del					C19orf33_ENST00000588605.1_3'UTR	p.K102del	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		4	399_401	+	all_cancers(60;1.07e-06)		102					Q0P6G2|Q96H58|Q9HCR4	In_Frame_Del	DEL	ENST00000301246.5	37	c.298_300delAAG	CCDS12511.1																																																																																				0.596	C19orf33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458168.1	NM_033520		9	5						9	5	---	---	---	---
