#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
ESR2	2100	broad.mit.edu	37	14	64735549	64735549	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:64735549G>T	ENST00000341099.4	-	4	1033	c.616C>A	c.(616-618)Ctt>Att	p.L206I	ESR2_ENST00000358599.5_Missense_Mutation_p.L206I|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000357782.2_Missense_Mutation_p.L206I|ESR2_ENST00000553796.1_Missense_Mutation_p.L206I|ESR2_ENST00000554572.1_Missense_Mutation_p.L206I|ESR2_ENST00000555278.1_Missense_Mutation_p.L206I|ESR2_ENST00000542956.1_Missense_Mutation_p.L206I|ESR2_ENST00000353772.3_Missense_Mutation_p.L206I|ESR2_ENST00000557772.1_Missense_Mutation_p.L206I|ESR2_ENST00000267525.6_Missense_Mutation_p.L206I	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	206					brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CACTTCCGAAGTCGGCAGGCC	0.478																																						ENST00000557772.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(616-618)Ctt>Att		estrogen receptor 2 (ER beta)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						129.0	127.0	127.0					14																	64735549		2203	4300	6503	SO:0001583	missense	0				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64735549G>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.616C>A	14.37:g.64735549G>T	ENSP00000343925:p.Leu206Ile					ESR2_ENST00000554572.1_Missense_Mutation_p.L206I|ESR2_ENST00000553796.1_Missense_Mutation_p.L206I|ESR2_ENST00000542956.1_Missense_Mutation_p.L206I|ESR2_ENST00000358599.5_Missense_Mutation_p.L206I|ESR2_ENST00000353772.3_Missense_Mutation_p.L206I|ESR2_ENST00000341099.4_Missense_Mutation_p.L206I|ESR2_ENST00000555278.1_Missense_Mutation_p.L206I|ESR2_ENST00000357782.2_Missense_Mutation_p.L206I|ESR2_ENST00000267525.6_Missense_Mutation_p.L206I|ESR2_ENST00000555483.1_5'UTR	p.L206I	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	3	615	-			206					A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.616C>A	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	G	35	5.413647	0.96072	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65	5.67	5.67	0.87782	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (5);	0.059913	0.64402	D	0.000002	D	0.98820	0.9602	M	0.82923	2.615	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.997;0.997;0.996	D	0.99758	1.1020	10	0.87932	D	0	.	19.7793	0.96412	0.0:0.0:1.0:0.0	.	206;206;206;206;206	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	I	206	ENSP00000452485:L206I;ENSP00000441792:L206I;ENSP00000450699:L206I;ENSP00000335551:L206I;ENSP00000351412:L206I;ENSP00000450488:L206I;ENSP00000452426:L206I;ENSP00000350427:L206I;ENSP00000451582:L206I;ENSP00000343925:L206I;ENSP00000267525:L206I	ENSP00000267525:L206I	L	-	1	0	ESR2	63805302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.756000	0.98918	2.678000	0.91216	0.555000	0.69702	CTT		0.478	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			85	481	1	0	1.96202e-32	1	2.21072e-32	85	481				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		10	1325	0	0	0	1	0	10	1325				
PCDHA2	56146	broad.mit.edu	37	5	140176342	140176342	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:140176342A>G	ENST00000526136.1	+	1	1793	c.1793A>G	c.(1792-1794)gAc>gGc	p.D598G	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D598G|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D598G|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCAGTGGACGCTGACTCA	0.662																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1792-1794)gAc>gGc									160.0	144.0	149.0					5																	140176342		2203	4300	6503	SO:0001583	missense	0							g.chr5:140176342A>G	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1793A>G	5.37:g.140176342A>G	ENSP00000431748:p.Asp598Gly					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D598G|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D598G	p.D598G	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1793	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1793A>G	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	a	14.62	2.588873	0.46110	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.61627	0.09;0.09;0.09	3.91	3.91	0.45181	Cadherin (4);Cadherin-like (1);	0.000000	0.41194	U	0.000923	D	0.84433	0.5471	H	0.99261	4.49	0.46222	D	0.998935	D;D;D	0.62365	0.967;0.991;0.967	P;D;D	0.68039	0.799;0.923;0.955	D	0.90120	0.4198	10	0.87932	D	0	.	12.7909	0.57533	1.0:0.0:0.0:0.0	.	598;598;598	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	G	598	ENSP00000430584:D598G;ENSP00000367372:D598G;ENSP00000431748:D598G	ENSP00000367372:D598G	D	+	2	0	PCDHA2	140156526	1.000000	0.71417	0.959000	0.39883	0.110000	0.19582	8.674000	0.91191	1.563000	0.49615	0.449000	0.29647	GAC		0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		57	386	0	0	0	1	0	57	386				
ZNF114	163071	broad.mit.edu	37	19	48789965	48789965	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:48789965G>A	ENST00000595607.1	+	6	1578	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	ZNF114_ENST00000315849.1_Missense_Mutation_p.E362K|ZNF114_ENST00000597695.1_Missense_Mutation_p.E328K|ZNF114_ENST00000600687.1_Missense_Mutation_p.E362K			Q8NC26	ZN114_HUMAN	zinc finger protein 114	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		GAAGCCCTACGAATGTGAAGA	0.388																																						ENST00000595607.1																			0				endometrium(1)|large_intestine(6)|lung(11)	18						c.(1084-1086)Gaa>Aaa		zinc finger protein 114							113.0	112.0	113.0					19																	48789965		2203	4300	6503	SO:0001583	missense	163071				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:48789965G>A	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.1084G>A	19.37:g.48789965G>A	ENSP00000469998:p.Glu362Lys					ZNF114_ENST00000315849.1_Missense_Mutation_p.E362K|ZNF114_ENST00000600687.1_Missense_Mutation_p.E362K|ZNF114_ENST00000597695.1_Missense_Mutation_p.E328K	p.E362K			Q8NC26	ZN114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)	6	1578	+		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	362					A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	37	c.1084G>A	CCDS12713.1	.	.	.	.	.	.	.	.	.	.	G	5.803	0.332407	0.10956	.	.	ENSG00000178150	ENST00000315849	T	0.19250	2.16	2.35	-1.76	0.08006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.01576	-0.805	0.09310	N	1	B	0.24882	0.113	B	0.16289	0.015	T	0.41627	-0.9498	9	0.16420	T	0.52	.	6.9118	0.24338	0.6724:0.0:0.3276:0.0	.	362	Q8NC26	ZN114_HUMAN	K	362	ENSP00000318898:E362K	ENSP00000318898:E362K	E	+	1	0	ZNF114	53481777	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.780000	0.01775	-0.303000	0.08856	0.205000	0.17691	GAA		0.388	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	NM_153608		228	658	0	0	0	1	0	228	658				
NAPEPLD	222236	broad.mit.edu	37	7	102760426	102760426	+	Missense_Mutation	SNP	G	G	A	rs367936558		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:102760426G>A	ENST00000417955.1	-	3	693	c.539C>T	c.(538-540)gCg>gTg	p.A180V	NAPEPLD_ENST00000341533.4_Missense_Mutation_p.A180V|NAPEPLD_ENST00000465647.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.A253V|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.A180V			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	180					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GATAAGGACCGCATCTATTGG	0.463																																						ENST00000417955.1																			0				endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(538-540)gCg>gTg		N-acyl phosphatidylethanolamine phospholipase D		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	227.0	211.0	216.0		539,539	5.1	0.1	7		216	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NAPEPLD	NM_001122838.1,NM_198990.4	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	180/394,180/394	102760426	1,13005	2203	4300	6503	SO:0001583	missense	222236				phospholipid catabolic process	membrane	metal ion binding	g.chr7:102760426G>A	BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"""	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.539C>T	7.37:g.102760426G>A	ENSP00000407112:p.Ala180Val					NAPEPLD_ENST00000465647.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.A180V|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.A253V|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.A180V	p.A180V			Q6IQ20	NAPEP_HUMAN			3	693	-			180					Q5CZ87|Q769K1	Missense_Mutation	SNP	ENST00000417955.1	37	c.539C>T	CCDS5729.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.764953	0.69878	0.0	1.16E-4	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523	D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1	5.93	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.90528	0.7032	L	0.48642	1.525	0.80722	D	1	P;P	0.42248	0.774;0.604	P;B	0.44990	0.466;0.131	D	0.88523	0.3097	10	0.25751	T	0.34	-15.5937	15.3142	0.74059	0.0671:0.0:0.9329:0.0	.	253;180	B4E3B0;Q6IQ20	.;NAPEP_HUMAN	V	180;180;180;180;253	ENSP00000340093:A180V;ENSP00000407112:A180V;ENSP00000419188:A180V;ENSP00000392775:A180V;ENSP00000414364:A253V	ENSP00000340093:A180V	A	-	2	0	NAPEPLD	102547662	1.000000	0.71417	0.069000	0.20011	0.812000	0.45895	6.752000	0.74898	1.521000	0.48983	0.591000	0.81541	GCG		0.463	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347904.1	NM_198990		6	810	0	0	0	1	0	6	810				
ROCK1	6093	broad.mit.edu	37	18	18562785	18562785	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:18562785C>T	ENST00000399799.2	-	21	3438	c.2498G>A	c.(2497-2499)aGa>aAa	p.R833K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	833	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCATTTCCTCTATACTGTCT	0.333																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(2497-2499)aGa>aAa		Rho-associated, coiled-coil containing protein kinase 1							111.0	105.0	107.0					18																	18562785		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18562785C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2498G>A	18.37:g.18562785C>T	ENSP00000382697:p.Arg833Lys						p.R833K	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			21	3438	-	Melanoma(1;0.165)		833			Glu-rich.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.2498G>A	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130305	0.56721	.	.	ENSG00000067900	ENST00000399799	T	0.12879	2.64	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	L	0.47716	1.5	0.58432	D	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.09707	-1.0662	10	0.14252	T	0.57	.	18.8588	0.92264	0.0:1.0:0.0:0.0	.	833	Q13464	ROCK1_HUMAN	K	833	ENSP00000382697:R833K	ENSP00000382697:R833K	R	-	2	0	ROCK1	16816783	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.210000	0.65214	2.699000	0.92147	0.591000	0.81541	AGA		0.333	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		52	350	0	0	0	1	0	52	350				
MST1L	11223	broad.mit.edu	37	1	17083776	17083776	+	RNA	SNP	C	C	A	rs56318124	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:17083776C>A	ENST00000455405.2	-	0	812							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R674L(1)									CACAGAGACACGCGTGAAGAC	0.537																																						ENST00000455405.2																			1	Substitution - Missense(1)	p.R674L(1)	endometrium(1)																																																0							g.chr1:17083776C>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083776C>A														0	812	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	14.57	2.575742	0.45902	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42172	D	0.000756	T	0.66197	0.2765	.	.	.	.	.	.	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.72117	-0.4387	6	0.87932	D	0	.	6.7402	0.23431	0.0:0.9998:0.0:2.0E-4	rs56318124	674;700	Q2TV78-2;Q2TV78	.;MSTP9_HUMAN	L	674;700	.	ENSP00000439273:R674L	R	-	2	0	MST1P9	16956363	1.000000	0.71417	0.897000	0.35233	0.000000	0.00434	4.748000	0.62148	0.502000	0.28037	0.000000	0.15137	CGT		0.537	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		10	175	1	0	1.10923e-09	1	1.20733e-09	10	175				
PARP12	64761	broad.mit.edu	37	7	139756817	139756817	+	Missense_Mutation	SNP	T	T	A	rs539142185		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:139756817T>A	ENST00000263549.3	-	3	1472	c.599A>T	c.(598-600)gAt>gTt	p.D200V		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	200						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATTAGAGAAATCATGGGATCT	0.438																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(598-600)gAt>gTt		poly (ADP-ribose) polymerase family, member 12							92.0	98.0	96.0					7																	139756817		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139756817T>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.599A>T	7.37:g.139756817T>A	ENSP00000263549:p.Asp200Val						p.D200V	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			3	1472	-	Melanoma(164;0.0142)		200					Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.599A>T	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127084	0.37533	.	.	ENSG00000059378	ENST00000263549	T	0.40756	1.02	5.31	2.88	0.33553	Zinc finger, CCCH-type (3);	0.829138	0.11297	N	0.578676	T	0.41558	0.1164	M	0.69358	2.11	0.22581	N	0.998967	B	0.14438	0.01	B	0.19946	0.027	T	0.41484	-0.9506	10	0.72032	D	0.01	.	7.4741	0.27365	0.1274:0.0701:0.0:0.8025	.	200	Q9H0J9	PAR12_HUMAN	V	200	ENSP00000263549:D200V	ENSP00000263549:D200V	D	-	2	0	PARP12	139403286	0.998000	0.40836	0.644000	0.29465	0.955000	0.61496	2.199000	0.42715	0.393000	0.25203	0.445000	0.29226	GAT		0.438	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		71	477	0	0	0	1	0	71	477				
NBPF10	100132406	broad.mit.edu	37	1	145325997	145325997	+	Silent	SNP	A	A	G	rs199988926	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	633						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTCTTGCAAGACTCACTGG	0.468													.|||	70	0.0139776	0.0083	0.0245	5008	,	,		19189	0.0089		0.0239	False		,,,				2504	0.0092					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3868-3870)caA>caG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145325997A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3870A>G	1.37:g.145325997A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.Q1290Q	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	30	3905	+	all_hematologic(923;0.032)		1290					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.3870A>G	CCDS53355.1																																																																																				0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		9	656	0	0	0	1	0	9	656				
NBPF12	149013	broad.mit.edu	37	1	146397441	146397441	+	Silent	SNP	G	G	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:146397441G>C	ENST00000442909.2	+	6	1094	c.258G>C	c.(256-258)ctG>ctC	p.L86L	NBPF12_ENST00000446760.2_Silent_p.L86L|NBPF12_ENST00000309471.8_Intron			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						CAGAGCAGCTGAAACAAGCTG	0.512																																						ENST00000442909.2																			0				ovary(2)	2						c.(256-258)ctG>ctC		neuroblastoma breakpoint family, member 12																																				SO:0001819	synonymous_variant	149013							g.chr1:146397441G>C	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.258G>C	1.37:g.146397441G>C						NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Silent_p.L86L	p.L86L							6	1094	+								O95877	Silent	SNP	ENST00000442909.2	37	c.258G>C																																																																																					0.512	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	XM_003119146		6	1000	0	0	0	1	0	6	1000				
CCDC102A	92922	broad.mit.edu	37	16	57559977	57559977	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:57559977C>T	ENST00000258214.2	-	3	894	c.648G>A	c.(646-648)gaG>gaA	p.E216E		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	216										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GGCTGCGCGCCTCCCAGCAGT	0.716																																						ENST00000258214.2																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(646-648)gaG>gaA		coiled-coil domain containing 102A							12.0	13.0	12.0					16																	57559977		2191	4288	6479	SO:0001819	synonymous_variant	92922							g.chr16:57559977C>T	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.648G>A	16.37:g.57559977C>T							p.E216E	NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN			3	894	-			216					Q9BT74	Silent	SNP	ENST00000258214.2	37	c.648G>A	CCDS10784.1																																																																																				0.716	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		7	42	0	0	0	1	0	7	42				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	166	0	0	0	1	0	7	166				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	413	0	0	0	1	0	6	413				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	214	0	0	0	1	0	6	214				
GUSBP11	91316	broad.mit.edu	37	22	24002072	24002072	+	RNA	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr22:24002072G>A	ENST00000455485.1	-	0	3339				KB-1572G7.2_ENST00000421064.1_RNA|AP000347.2_ENST00000417194.1_RNA			Q6P575	BGP11_HUMAN	glucuronidase, beta pseudogene 11						carbohydrate metabolic process (GO:0005975)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										CATGAAATCGGCAAAATTCCA	0.443																																						ENST00000417194.1																			0																																																			0							g.chr22:24002072G>A			22q11.23	2011-06-09			ENSG00000228315	ENSG00000228315			42325	pseudogene	pseudogene							Standard	NR_024448		Approved		uc011aiz.2	Q6P575	OTTHUMG00000150709		22.37:g.24002072G>A														0	3212	-									RNA	SNP	ENST00000455485.1	37																																																																																						0.443	GUSBP11-005	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000319697.1			6	309	0	0	0	1	0	6	309				
UGT2B17	7367	broad.mit.edu	37	4	69403349	69403349	+	Silent	SNP	C	C	T	rs377546716		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:69403349C>T	ENST00000317746.2	-	6	1629	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	529					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.R529R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ATAACTAATCCCTTTTCTTCT	0.408																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			2	Substitution - coding silent(2)	p.R529R(2)	lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1585-1587)agG>agA		UDP glucuronosyltransferase 2 family, polypeptide B17							82.0	79.0	80.0					4																	69403349		2114	4002	6116	SO:0001819	synonymous_variant	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69403349C>T	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1587G>A	4.37:g.69403349C>T							p.R529R	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			6	1629	-			529						Silent	SNP	ENST00000317746.2	37	c.1587G>A	CCDS3523.1																																																																																				0.408	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		6	281	0	0	0	1	0	6	281				
TNNT1	7138	broad.mit.edu	37	19	55653261	55653261	+	Silent	SNP	C	C	T	rs369149321		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:55653261C>T	ENST00000588981.1	-	7	360	c.156G>A	c.(154-156)ccG>ccA	p.P52P	TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000587758.1_Silent_p.P41P|TNNT1_ENST00000536926.1_Silent_p.P41P|TNNT1_ENST00000356783.5_Silent_p.P41P|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000291901.8_Silent_p.P52P|TNNT1_ENST00000585321.2_5'UTR	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	52					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGATCTTTGGCGGGATCAAAG	0.597													c|||	1	0.000199681	0.0008	0.0	5008	,	,		13730	0.0		0.0	False		,,,				2504	0.0					ENST00000588981.1																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.(154-156)ccG>ccA		troponin T type 1 (skeletal, slow)							94.0	100.0	98.0					19																	55653261		2203	4300	6503	SO:0001819	synonymous_variant	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55653261C>T		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.156G>A	19.37:g.55653261C>T						TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000291901.8_Silent_p.P52P|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000587758.1_Silent_p.P41P|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000536926.1_Silent_p.P41P|TNNT1_ENST00000356783.5_Silent_p.P41P	p.P52P	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	7	360	-			52					O95472|Q16061|Q5U0E1	Silent	SNP	ENST00000588981.1	37	c.156G>A	CCDS12917.1																																																																																				0.597	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		7	854	0	0	0	1	0	7	854				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	97	0	0	0	1	0	4	97				
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.C595Y(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1783-1785)tGt>tAt		nuclear factor, erythroid 2-like 3							61.0	58.0	59.0					7																	26225102		2203	4299	6502	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225102G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1784G>A	7.37:g.26225102G>A	ENSP00000056233:p.Cys595Tyr						p.C595Y	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2043	+			595					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1784G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483904	0.84854	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.92858	-3.12	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-5.5783	19.4639	0.94931	0.0:0.0:1.0:0.0	.	595	Q9Y4A8	NF2L3_HUMAN	Y	595;300	ENSP00000056233:C595Y	ENSP00000056233:C595Y	C	+	2	0	NFE2L3	26191627	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	2.703000	0.92315	0.591000	0.81541	TGT		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			5	242	0	0	0	1	0	5	242				
MDM1	56890	broad.mit.edu	37	12	68720759	68720759	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:68720759G>A	ENST00000303145.7	-	3	262	c.176C>T	c.(175-177)cCt>cTt	p.P59L	MDM1_ENST00000411698.2_Missense_Mutation_p.P59L|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000430606.2_Missense_Mutation_p.P59L|MDM1_ENST00000545724.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	59					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GTCATGGTAAGGGACTCTTCT	0.413																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(175-177)cCt>cTt		Mdm1 nuclear protein homolog (mouse)							74.0	78.0	77.0					12																	68720759		2203	4300	6503	SO:0001583	missense	56890					nucleus		g.chr12:68720759G>A	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.176C>T	12.37:g.68720759G>A	ENSP00000302537:p.Pro59Leu					MDM1_ENST00000430606.2_Missense_Mutation_p.P59L|MDM1_ENST00000411698.2_Missense_Mutation_p.P59L|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_Intron	p.P59L	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	3	262	-			59					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	37	c.176C>T	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110659	0.77210	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686;ENST00000430606	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.1	5.1	0.69264	.	0.115685	0.56097	D	0.000021	T	0.52141	0.1716	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.51395	-0.8711	9	.	.	.	-18.3387	17.0854	0.86610	0.0:0.0:1.0:0.0	.	59;59;59	E7EPQ3;Q8TC05-2;Q8TC05	.;.;MDM1_HUMAN	L	59;59;54;59	ENSP00000302537:P59L;ENSP00000391006:P59L;ENSP00000446000:P54L;ENSP00000408694:P59L	.	P	-	2	0	MDM1	67007026	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.242000	0.72376	2.532000	0.85374	0.561000	0.74099	CCT		0.413	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		44	297	0	0	0	1	0	44	297				
AFF2	2334	broad.mit.edu	37	X	148072839	148072839	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:148072839C>T	ENST00000370460.2	+	21	4392	c.3913C>T	c.(3913-3915)Cgc>Tgc	p.R1305C	AFF2_ENST00000286437.5_Missense_Mutation_p.R946C|AFF2_ENST00000342251.3_Missense_Mutation_p.R1272C|AFF2_ENST00000370457.5_Missense_Mutation_p.R1270C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1305					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTGGCTGCGCATCGATGC	0.542																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(3913-3915)Cgc>Tgc		AF4/FMR2 family, member 2							243.0	163.0	190.0					X																	148072839		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148072839C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3913C>T	X.37:g.148072839C>T	ENSP00000359489:p.Arg1305Cys					AFF2_ENST00000370457.5_Missense_Mutation_p.R1270C|AFF2_ENST00000286437.5_Missense_Mutation_p.R946C|AFF2_ENST00000342251.3_Missense_Mutation_p.R1272C	p.R1305C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			21	4392	+	Acute lymphoblastic leukemia(192;6.56e-05)		1305					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3913C>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676515	0.88445	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.997;0.995;0.995;0.979;0.979;0.988	D	0.88026	0.2772	10	0.87932	D	0	.	18.3752	0.90433	0.0:1.0:0.0:0.0	.	946;1270;1270;1266;1295;1305	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	C	1305;1270;1272;946	ENSP00000359489:R1305C;ENSP00000359486:R1270C;ENSP00000345459:R1272C;ENSP00000286437:R946C	ENSP00000286437:R946C	R	+	1	0	AFF2	147880545	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.696000	0.84270	2.279000	0.76181	0.594000	0.82650	CGC		0.542	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		112	361	0	0	0	1	0	112	361				
VPS13D	55187	broad.mit.edu	37	1	12516159	12516159	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:12516159G>A	ENST00000358136.3	+	66	12569	c.12439G>A	c.(12439-12441)Gta>Ata	p.V4147I	VPS13D_ENST00000543766.1_Missense_Mutation_p.V145I|VPS13D_ENST00000356315.4_Missense_Mutation_p.V4122I|VPS13D_ENST00000496628.1_Intron	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAACACCTTGTAGCCGGCAT	0.532																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(12439-12441)Gta>Ata		vacuolar protein sorting 13 homolog D (S. cerevisiae)							100.0	74.0	83.0					1																	12516159		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12516159G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12439G>A	1.37:g.12516159G>A	ENSP00000350854:p.Val4147Ile					VPS13D_ENST00000543766.1_Missense_Mutation_p.V145I|VPS13D_ENST00000496628.1_Intron|VPS13D_ENST00000356315.4_Missense_Mutation_p.V4122I	p.V4147I	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	66	12569	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4146						Missense_Mutation	SNP	ENST00000358136.3	37	c.12439G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	36	5.629524	0.96671	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766	T;T;T	0.78003	0.59;0.59;-1.14	5.84	5.84	0.93424	.	0.109616	0.64402	D	0.000009	D	0.86806	0.6021	M	0.71581	2.175	0.80722	D	1	P;D;D	0.67145	0.724;0.99;0.996	B;P;P	0.61940	0.372;0.896;0.889	D	0.85069	0.0939	10	0.40728	T	0.16	.	20.1454	0.98074	0.0:0.0:1.0:0.0	.	145;4122;4146	F5GX56;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	I	4122;4147;145	ENSP00000348666:V4122I;ENSP00000350854:V4147I;ENSP00000441122:V145I	ENSP00000348666:V4122I	V	+	1	0	VPS13D	12438746	1.000000	0.71417	0.694000	0.30210	0.991000	0.79684	7.571000	0.82399	2.748000	0.94277	0.650000	0.86243	GTA		0.532	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		5	375	0	0	0	1	0	5	375				
BMS1P20	96610	broad.mit.edu	37	22	22664106	22664106	+	RNA	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr22:22664106G>A	ENST00000426066.1	+	0	629					NR_027293.1				BMS1 pseudogene 20																		TGTAGGGAATGTTTAATTCAG	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664106G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664106G>A								NR_027293.1						0	629	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	294	0	0	0	1	0	7	294				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			7	348	0	0	0	1	0	7	348				
ALG1L	200810	broad.mit.edu	37	3	125647387	125647387	+	IGR	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:125647387G>A	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						ACCAGAAACTGTTTCCCTATG	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647387G>A	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647387G>A								NR_024251.1						0	532	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		11	551	0	0	0	1	0	11	551				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs200662795		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GACAGCTGCCTTGTGTGGGAC	0.438																																						ENST00000376797.3																			0																																																			0							g.chr6:29977327T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977327T>C						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		8	270	0	0	0	1	0	8	270				
C1orf127	148345	broad.mit.edu	37	1	11007918	11007918	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:11007918C>T	ENST00000377008.4	-	11	2219	c.1773G>A	c.(1771-1773)acG>acA	p.T591T	C1orf127_ENST00000377004.4_Silent_p.T758T			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	591										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TCAGGGTTTGCGTGGATGGAG	0.672																																						ENST00000377004.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32						c.(2272-2274)acG>acA		chromosome 1 open reading frame 127							46.0	42.0	43.0					1																	11007918		2203	4300	6503	SO:0001819	synonymous_variant	148345							g.chr1:11007918C>T	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1773G>A	1.37:g.11007918C>T						C1orf127_ENST00000377008.4_Silent_p.T591T	p.T758T	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	12	2273	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	609					A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37	c.2274G>A		.	.	.	.	.	.	.	.	.	.	c	2.475	-0.321065	0.05386	.	.	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	3.59	-6.14	0.02111	.	.	.	.	.	T	0.20495	0.0493	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30592	-0.9973	4	.	.	.	0.8678	5.6596	0.17662	0.0:0.2003:0.281:0.5187	.	.	.	.	H	593;710	.	.	R	-	2	0	C1orf127	10930505	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.158000	0.10070	-1.131000	0.02910	-0.930000	0.02707	CGC		0.672	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		15	134	0	0	0	1	0	15	134				
PRG4	10216	broad.mit.edu	37	1	186276064	186276064	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:186276064G>A	ENST00000445192.2	+	7	1258	c.1213G>A	c.(1213-1215)Gca>Aca	p.A405T	PRG4_ENST00000367485.4_Missense_Mutation_p.A312T|PRG4_ENST00000367486.3_Missense_Mutation_p.A362T|PRG4_ENST00000367483.4_Missense_Mutation_p.A364T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	405	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.657																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1213-1215)Gca>Aca		proteoglycan 4							91.0	86.0	88.0					1																	186276064		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276064G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1213G>A	1.37:g.186276064G>A	ENSP00000399679:p.Ala405Thr					PRG4_ENST00000367485.4_Missense_Mutation_p.A312T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.A364T|PRG4_ENST00000367486.3_Missense_Mutation_p.A362T	p.A405T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1258	+			405			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1213G>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	7.396	0.631789	0.14322	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.06528	3.29;3.39;3.3;3.4	3.29	-0.723	0.11181	.	.	.	.	.	T	0.02807	0.0084	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.14012	0.009;0.009;0.005;0.009	B;B;B;B	0.11329	0.006;0.006;0.003;0.006	T	0.47249	-0.9132	8	.	.	.	.	0.4948	0.00570	0.1791:0.2004:0.2175:0.4031	.	271;312;405;364	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	T	362;271;364;312;405	ENSP00000356456:A362T;ENSP00000356453:A364T;ENSP00000356455:A312T;ENSP00000399679:A405T	.	A	+	1	0	PRG4	184542687	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.332000	0.07904	0.056000	0.16144	-0.420000	0.06012	GCA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	469	0	0	0	1	0	6	469				
PLIN4	729359	broad.mit.edu	37	19	4511859	4511859	+	Missense_Mutation	SNP	T	T	C	rs570898926		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:4511859T>C	ENST00000301286.3	-	3	2070	c.2071A>G	c.(2071-2073)Atg>Gtg	p.M691V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	691	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACTGCCCCCATGAGCCCAGTA	0.592													T|||	1	0.000199681	0.0	0.0	5008	,	,		39657	0.0		0.0	False		,,,				2504	0.001					ENST00000301286.3																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2071-2073)Atg>Gtg		perilipin 4							243.0	261.0	255.0					19																	4511859		2151	4245	6396	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511859T>C	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2071A>G	19.37:g.4511859T>C	ENSP00000301286:p.Met691Val						p.M691V	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN			3	2070	-			691			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2071A>G	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670420	0.29693	.	.	ENSG00000167676	ENST00000301286	T	0.02763	4.17	5.31	5.31	0.75309	.	1.216040	0.06290	N	0.699098	T	0.04182	0.0116	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.41858	-0.9485	10	0.30854	T	0.27	-0.8619	9.4897	0.38951	0.1579:0.0:0.0:0.8421	.	691	Q96Q06	PLIN4_HUMAN	V	691	ENSP00000301286:M691V	ENSP00000301286:M691V	M	-	1	0	PLIN4	4462859	0.000000	0.05858	0.024000	0.17045	0.045000	0.14185	0.103000	0.15292	2.008000	0.58898	0.386000	0.25728	ATG		0.592	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		9	1933	0	0	0	1	0	9	1933				
LCP1	3936	broad.mit.edu	37	13	46730641	46730641	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr13:46730641C>T	ENST00000398576.2	-	8	811	c.423G>A	c.(421-423)cgG>cgA	p.R141R	LCP1_ENST00000323076.2_Silent_p.R141R|LCP1_ENST00000460190.1_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	141	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.R141R(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGATGACATGCCGACAATCAG	0.383			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		1	Substitution - coding silent(1)	p.R141R(1)	kidney(1)	breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(421-423)cgG>cgA		lymphocyte cytosolic protein 1 (L-plastin)							251.0	241.0	244.0					13																	46730641		2203	4300	6503	SO:0001819	synonymous_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46730641C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.423G>A	13.37:g.46730641C>T						LCP1_ENST00000323076.2_Silent_p.R141R	p.R141R			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	8	811	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	141			Actin-binding 1.|CH 1.		B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	37	c.423G>A	CCDS9403.1																																																																																				0.383	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		6	706	0	0	0	1	0	6	706				
ZNF99	7652	broad.mit.edu	37	19	22940373	22940373	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:22940373T>C	ENST00000596209.1	-	4	2428	c.2338A>G	c.(2338-2340)Aag>Gag	p.K780E	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.K689E	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	780					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.343																																						ENST00000397104.3																			3	Substitution - Missense(3)	p.K689E(3)	prostate(1)|lung(1)|kidney(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2065-2067)Aag>Gag		zinc finger protein 99							32.0	34.0	34.0					19																	22940373		1947	4138	6085	SO:0001583	missense	7652							g.chr19:22940373T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2338A>G	19.37:g.22940373T>C	ENSP00000472969:p.Lys780Glu					ZNF99_ENST00000596209.1_Missense_Mutation_p.K780E	p.K689E							5	2064	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2065A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	9.727	1.161345	0.21538	.	.	ENSG00000213973	ENST00000397104	T	0.18016	2.24	1.26	-2.52	0.06346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20495	0.0493	L	0.28400	0.85	0.09310	N	1	D	0.65815	0.995	D	0.65233	0.933	T	0.12837	-1.0532	9	0.54805	T	0.06	.	4.187	0.10402	0.1821:0.0:0.5141:0.3038	.	689	A8MXY4	ZNF99_HUMAN	E	689	ENSP00000380293:K689E	ENSP00000380293:K689E	K	-	1	0	ZNF99	22732213	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.737000	0.04877	-0.939000	0.03709	0.313000	0.20887	AAG		0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	381	0	0	0	1	0	5	381				
AGBL2	79841	broad.mit.edu	37	11	47681762	47681762	+	Missense_Mutation	SNP	G	G	A	rs138759912	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:47681762G>A	ENST00000525123.1	-	19	2957	c.2672C>T	c.(2671-2673)gCg>gTg	p.A891V	AGBL2_ENST00000298861.4_Missense_Mutation_p.A891V|AGBL2_ENST00000357610.3_Missense_Mutation_p.A893V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	891						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TGGGTATGCCGCCATGGCAGC	0.507													G|||	8	0.00159744	0.0061	0.0	5008	,	,		17768	0.0		0.0	False		,,,				2504	0.0					ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(2671-2673)gCg>gTg		ATP/GTP binding protein-like 2		G	VAL/ALA	9,4393	15.5+/-35.6	0,9,2192	131.0	113.0	119.0		2672	0.6	0.0	11	dbSNP_134	119	0,8596		0,0,4298	yes	missense	AGBL2	NM_024783.3	64	0,9,6490	AA,AG,GG		0.0,0.2045,0.0692	benign	891/903	47681762	9,12989	2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47681762G>A		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2672C>T	11.37:g.47681762G>A	ENSP00000435582:p.Ala891Val					AGBL2_ENST00000357610.3_Missense_Mutation_p.A893V|AGBL2_ENST00000298861.4_Missense_Mutation_p.A891V	p.A891V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			19	2957	-			891					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.2672C>T	CCDS7944.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	3.229	-0.157929	0.06544	0.002045	0.0	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861	T;T;T	0.09538	2.97;2.97;2.97	4.79	0.562	0.17290	.	0.950318	0.08662	N	0.912279	T	0.03915	0.0110	N	0.16478	0.41	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46555	-0.9183	10	0.13108	T	0.6	2.8316	6.4798	0.22057	0.4834:0.0:0.5166:0.0	.	891	Q5U5Z8	CBPC2_HUMAN	V	274;891;893;891	ENSP00000435582:A891V;ENSP00000350228:A893V;ENSP00000298861:A891V	ENSP00000298861:A891V	A	-	2	0	AGBL2	47638338	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.127000	0.10547	0.017000	0.15025	-0.384000	0.06662	GCG		0.507	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		42	333	0	0	0	1	0	42	333				
MUC17	140453	broad.mit.edu	37	7	100681963	100681963	+	Silent	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:100681963T>C	ENST00000306151.4	+	3	7330	c.7266T>C	c.(7264-7266)gtT>gtC	p.V2422V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2422	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTCCTGTTGACACCAGCA	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7264-7266)gtT>gtC		mucin 17, cell surface associated							373.0	361.0	365.0					7																	100681963		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681963T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7266T>C	7.37:g.100681963T>C							p.V2422V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7330	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2422			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7266T>C	CCDS34711.1																																																																																				0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		11	1808	0	0	0	1	0	11	1808				
TRDJ3	28520	broad.mit.edu	37	14	22928115	22928115	+	RNA	SNP	T	T	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:22928115T>A	ENST00000390476.1	+	0	26				TRDJ2_ENST00000390475.1_RNA|AE000661.37_ENST00000514473.2_RNA					T cell receptor delta joining 3																		ACAGATGTTTTTCGGAACTGG	0.522																																						ENST00000514473.2																			0																				65.0	67.0	66.0					14																	22928115		1842	4093	5935			0							g.chr14:22928115T>A	M21508		14q11.2	2012-02-07			ENSG00000211828	ENSG00000211828		"""T cell receptors / TRD locus"""	12259	other	T cell receptor gene						3186718	Standard	NG_001332		Approved				OTTHUMG00000170904		14.37:g.22928115T>A						TRDJ3_ENST00000390476.1_RNA								0	225	-									RNA	SNP	ENST00000390476.1	37																																																																																						0.522	TRDJ3-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	TR_J_gene	TR_J_gene	OTTHUMT00000410935.1	NG_001332		14	62	0	0	0	1	0	14	62				
CNOT3	4849	broad.mit.edu	37	19	54649652	54649652	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:54649652C>T	ENST00000406403.1	+	8	2313	c.710C>T	c.(709-711)gCg>gTg	p.A237V	CNOT3_ENST00000221232.5_Missense_Mutation_p.A237V|CNOT3_ENST00000358389.3_Missense_Mutation_p.A56V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	237					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGCACAGGCGCTGGTCGCC	0.632																																						ENST00000406403.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(709-711)gCg>gTg		CCR4-NOT transcription complex, subunit 3							115.0	94.0	101.0					19																	54649652		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54649652C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.710C>T	19.37:g.54649652C>T	ENSP00000383954:p.Ala237Val					CNOT3_ENST00000221232.5_Missense_Mutation_p.A237V|CNOT3_ENST00000358389.3_Missense_Mutation_p.A56V	p.A237V			O75175	CNOT3_HUMAN			8	2313	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		237					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.710C>T	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.172407|5.172407	0.94807|0.94807	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000440571	T;T;T|.	0.61510|.	0.89;0.1;0.89|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.179711|.	0.48767|.	D|.	0.000163|.	T|T	0.58047|0.58047	0.2095|0.2095	L|L	0.34521|0.34521	1.04|1.04	0.52099|0.52099	D|D	0.999947|0.999947	D;P;D|.	0.67145|.	0.978;0.886;0.996|.	B;B;P|.	0.47786|.	0.313;0.206;0.557|.	T|T	0.52968|0.52968	-0.8504|-0.8504	10|5	0.41790|.	T|.	0.15|.	-26.6693|-26.6693	17.1265|17.1265	0.86715|0.86715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	237;237;161|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	V|C	237;56;237|159	ENSP00000221232:A237V;ENSP00000351159:A56V;ENSP00000383954:A237V|.	ENSP00000221232:A237V|.	A|R	+|+	2|1	0|0	CNOT3|CNOT3	59341464|59341464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.923000|6.923000	0.75817|0.75817	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.632	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		19	349	0	0	0	1	0	19	349				
LRP1	4035	broad.mit.edu	37	12	57578958	57578958	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:57578958A>G	ENST00000243077.3	+	40	6899	c.6433A>G	c.(6433-6435)Atc>Gtc	p.I2145V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2145					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTTAAAGACATCAAAGTCTT	0.627																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(6433-6435)Atc>Gtc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						61.0	65.0	63.0					12																	57578958		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57578958A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6433A>G	12.37:g.57578958A>G	ENSP00000243077:p.Ile2145Val						p.I2145V	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	40	6899	+			2145					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6433A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002798	0.35320	.	.	ENSG00000123384	ENST00000243077	D	0.91180	-2.8	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.88683	0.6503	N	0.14661	0.345	0.80722	D	1	P	0.48640	0.913	P	0.61592	0.891	D	0.85470	0.1172	10	0.12103	T	0.63	.	14.2419	0.65963	1.0:0.0:0.0:0.0	.	2145	Q07954	LRP1_HUMAN	V	2145	ENSP00000243077:I2145V	ENSP00000243077:I2145V	I	+	1	0	LRP1	55865225	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	5.392000	0.66272	2.014000	0.59158	0.402000	0.26972	ATC		0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		38	412	0	0	0	1	0	38	412				
ATP10A	57194	broad.mit.edu	37	15	25953443	25953443	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:25953443G>A	ENST00000356865.6	-	11	2460	c.2349C>T	c.(2347-2349)gaC>gaT	p.D783D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	783					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCCTCTGGCGTCAACTAGGT	0.502																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2347-2349)gaC>gaT		ATPase, class V, type 10A							86.0	77.0	80.0					15																	25953443		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953443G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2349C>T	15.37:g.25953443G>A							p.D783D	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	11	2460	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	783					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2349C>T	CCDS32178.1																																																																																				0.502	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		44	316	0	0	0	1	0	44	316				
NPFFR1	64106	broad.mit.edu	37	10	72025941	72025941	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:72025941G>A	ENST00000277942.6	-	2	213	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	72					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			endometrium(2)|lung(1)	3						TGCATGTGCCGGTTCTTGAGC	0.562																																						ENST00000277942.5																			0				endometrium(2)|lung(1)	3						c.(214-216)Cgg>Tgg		neuropeptide FF receptor 1							84.0	83.0	83.0					10																	72025941		2157	4277	6434	SO:0001583	missense	64106					integral to membrane|plasma membrane	neuropeptide receptor activity	g.chr10:72025941G>A	AB040104	CCDS53539.1	10q21-q22	2012-08-10	2006-02-15	2006-02-15	ENSG00000148734	ENSG00000148734		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	17425	protein-coding gene	gene with protein product	"""neuropeptide FF 1"""	607448	"""G protein-coupled receptor 147"""	GPR147		11024015	Standard	NM_022146		Approved	OT7T022, NPFF1R1	uc021psj.1	Q9GZQ6	OTTHUMG00000018404	ENST00000277942.6:c.214C>T	10.37:g.72025941G>A	ENSP00000277942:p.Arg72Trp						p.R72W	NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN			2	221	-			72					A2RRF0|Q8NGR0|Q96RN3	Missense_Mutation	SNP	ENST00000277942.6	37	c.214C>T	CCDS53539.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.147879	0.57151	.	.	ENSG00000148734	ENST00000449957;ENST00000277942	T;T	0.42513	0.97;0.97	5.05	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	0.066848	0.64402	D	0.000014	T	0.72661	0.3488	H	0.95884	3.735	0.50039	D	0.999847	D	0.89917	1.0	D	0.97110	1.0	T	0.80169	-0.1494	10	0.87932	D	0	.	11.5084	0.50481	0.0:0.0:0.5446:0.4554	.	72	Q9GZQ6	NPFF1_HUMAN	W	70;72	ENSP00000401171:R70W;ENSP00000277942:R72W	ENSP00000277942:R72W	R	-	1	2	NPFFR1	71695947	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	1.797000	0.38804	1.098000	0.41479	0.313000	0.20887	CGG		0.562	NPFFR1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048504.2	NM_022146		36	261	0	0	0	1	0	36	261				
NPIPA5	100288332	broad.mit.edu	37	16	15457754	15457754	+	Missense_Mutation	SNP	T	T	G	rs148628178	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:15457754T>G	ENST00000360151.4	-	8	814	c.815A>C	c.(814-816)tAt>tCt	p.Y272S		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	272	Pro-rich.																TGGAAGGGGATAGAGCAGACG	0.517																																						ENST00000360151.4																			0											c.(814-816)tAt>tCt		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457754T>G		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.815A>C	16.37:g.15457754T>G	ENSP00000433597:p.Tyr272Ser						p.Y272S	NM_001277325.1	NP_001264254.1					8	814	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.815A>C	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	0.116	-1.132157	0.01756	.	.	ENSG00000183793	ENST00000360151	T	0.39592	1.07	.	.	.	.	.	.	.	.	T	0.19525	0.0469	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.25398	-1.0133	4	0.22109	T	0.4	.	.	.	.	.	.	.	.	S	272	ENSP00000433597:Y272S	ENSP00000433597:Y272S	Y	-	2	0	RP11-82O18.1	15365255	.	.	.	.	.	.	.	.	.	.	.	.	TAT		0.517	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			7	1481	0	0	0	1	0	7	1481				
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38.0	29.0	33.0					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		5	173	0	0	0	1	0	5	173				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			5	151	0	0	0	1	0	5	151				
KCNH6	81033	broad.mit.edu	37	17	61611293	61611293	+	Missense_Mutation	SNP	C	C	T	rs184322799	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:61611293C>T	ENST00000583023.1	+	5	733	c.722C>T	c.(721-723)gCg>gTg	p.A241V	KCNH6_ENST00000456941.2_Missense_Mutation_p.A241V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A241V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A241V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A241V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	241					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A241V(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AAGCTGCAGGCGCCGCGCATC	0.672													C|||	4	0.000798722	0.0023	0.0	5008	,	,		16650	0.001		0.0	False		,,,				2504	0.0					ENST00000583023.1																			1	Substitution - Missense(1)	p.A241V(1)	endometrium(1)	breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(721-723)gCg>gTg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)	C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	100.0	85.0	90.0		722,722	2.9	0.8	17		90	0,8600		0,0,4300	no	missense,missense	KCNH6	NM_173092.1,NM_030779.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	241/906,241/995	61611293	1,13005	2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611293C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.722C>T	17.37:g.61611293C>T	ENSP00000463533:p.Ala241Val					KCNH6_ENST00000581784.1_Missense_Mutation_p.A241V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A241V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A241V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A241V	p.A241V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			5	733	+			241					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.722C>T	CCDS11638.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.97	1.501304	0.26861	2.27E-4	0.0	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.94650	-3.48;-3.48	3.9	2.93	0.34026	.	0.064020	0.64402	D	0.000008	D	0.92645	0.7663	M	0.68952	2.095	0.50039	D	0.999849	B;B;P;B;B	0.47841	0.004;0.001;0.901;0.003;0.006	B;B;B;B;B	0.42319	0.007;0.004;0.383;0.002;0.005	D	0.91303	0.5068	10	0.49607	T	0.09	.	11.9936	0.53189	0.0:0.9134:0.0:0.0866	.	118;241;241;241;241	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	241	ENSP00000318212:A241V;ENSP00000396900:A241V	ENSP00000318212:A241V	A	+	2	0	KCNH6	58965025	1.000000	0.71417	0.842000	0.33263	0.406000	0.30931	5.929000	0.70096	0.969000	0.38237	-0.657000	0.03884	GCG		0.672	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		78	382	0	0	0	1	0	78	382				
AKT2	208	broad.mit.edu	37	19	40762881	40762881	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:40762881C>T	ENST00000392038.2	-	3	425	c.127G>A	c.(127-129)Gag>Aag	p.E43K	AKT2_ENST00000311278.6_Missense_Mutation_p.E43K|AKT2_ENST00000424901.1_Missense_Mutation_p.E43K|AKT2_ENST00000579047.1_5'UTR	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	43	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TCAGGGGCCTCGGGCCTCTCC	0.562			A		"""ovarian, pancreatic """																																	ENST00000392038.2				Dom	yes		19	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2			E			"""ovarian, pancreatic """		0				breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27						c.(127-129)Gag>Aag		v-akt murine thymoma viral oncogene homolog 2							88.0	83.0	84.0					19																	40762881		2203	4300	6503	SO:0001583	missense	208				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:40762881C>T	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.127G>A	19.37:g.40762881C>T	ENSP00000375892:p.Glu43Lys					AKT2_ENST00000311278.6_Missense_Mutation_p.E43K|AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000424901.1_Missense_Mutation_p.E43K	p.E43K	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	Lung(22;0.000499)		3	425	-			43			PH.		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	37	c.127G>A	CCDS12552.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868462	0.51588	.	.	ENSG00000105221	ENST00000392038;ENST00000358335;ENST00000424901;ENST00000311278;ENST00000537834;ENST00000452077;ENST00000392037;ENST00000416362;ENST00000423127;ENST00000456441;ENST00000416994;ENST00000427375;ENST00000441941	T;T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.27	5.27	0.74061	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.093111	0.64402	D	0.000001	T	0.23688	0.0573	N	0.10733	0.035	0.49798	D	0.999823	B;B;B	0.22480	0.07;0.027;0.008	B;B;B	0.19666	0.026;0.015;0.004	T	0.09596	-1.0667	10	0.07482	T	0.82	.	17.8288	0.88674	0.0:1.0:0.0:0.0	.	43;43;43	B7Z8Z9;Q0VAN0;P31751	.;.;AKT2_HUMAN	K	43;42;43;43;43;43;43;43;43;43;43;43;43	ENSP00000375892:E43K;ENSP00000399532:E43K;ENSP00000309428:E43K;ENSP00000404083:E43K;ENSP00000375891:E43K;ENSP00000407999:E43K;ENSP00000403842:E43K;ENSP00000396532:E43K;ENSP00000392458:E43K;ENSP00000403890:E43K;ENSP00000396968:E43K	ENSP00000309428:E43K	E	-	1	0	AKT2	45454721	0.888000	0.30383	0.953000	0.39169	0.965000	0.64279	1.770000	0.38532	2.758000	0.94735	0.561000	0.74099	GAG		0.562	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	NM_001626		6	330	0	0	0	1	0	6	330				
EIF2B5	8893	broad.mit.edu	37	3	183854501	183854501	+	Silent	SNP	T	T	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:183854501T>A	ENST00000273783.3	+	2	419	c.297T>A	c.(295-297)gcT>gcA	p.A99A	RP11-778D9.12_ENST00000608232.1_RNA|EIF2B5_ENST00000498831.1_3'UTR|RP11-778D9.12_ENST00000608135.1_RNA|EIF2B5_ENST00000432569.1_Silent_p.A99A|EIF2B5_ENST00000444495.1_Silent_p.A99A	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	99					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCTGGAAAGCTGCTCAAATCA	0.423																																						ENST00000273783.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27						c.(295-297)gcT>gcA		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							197.0	195.0	196.0					3																	183854501		2203	4300	6503	SO:0001819	synonymous_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183854501T>A	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.297T>A	3.37:g.183854501T>A						EIF2B5_ENST00000432569.1_Silent_p.A99A|EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Silent_p.A99A	p.A99A	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		2	419	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		99					Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.297T>A	CCDS3252.1																																																																																				0.423	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			7	900	0	0	0	1	0	7	900				
FRG1B	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	72										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(214-216)cCa>cAa																																						SO:0001583	missense	0							g.chr20:29625971C>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.215C>A	20.37:g.29625971C>A	ENSP00000278882:p.Pro72Gln					FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q	p.P72Q							5	595	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.215C>A		.	.	.	.	.	.	.	.	.	.	c	12.14	1.847531	0.32606	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49720	0.77	1.68	1.68	0.24146	.	0.112402	0.64402	D	0.000009	T	0.63271	0.2497	.	.	.	0.49483	D	0.999795	D	0.63046	0.992	D	0.79784	0.993	T	0.65948	-0.6044	9	0.66056	D	0.02	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	77	F5H5R5	.	Q	72;77;72	ENSP00000408863:P77Q	ENSP00000278882:P72Q	P	+	2	0	FRG1B	28239632	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CCA		0.328	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	497	1	0	0.010729	1	0.0109341	7	497				
UBR4	23352	broad.mit.edu	37	1	19439055	19439055	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:19439055G>A	ENST00000375254.3	-	78	11791	c.11764C>T	c.(11764-11766)Cgg>Tgg	p.R3922W	UBR4_ENST00000375217.2_Missense_Mutation_p.R3915W|UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375226.2_Missense_Mutation_p.R3898W|UBR4_ENST00000375267.2_Missense_Mutation_p.R3922W	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3922					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCTCCTCCCGCATGGCCGCA	0.602																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(11764-11766)Cgg>Tgg		ubiquitin protein ligase E3 component n-recognin 4							64.0	70.0	68.0					1																	19439055		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19439055G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11764C>T	1.37:g.19439055G>A	ENSP00000364403:p.Arg3922Trp					UBR4_ENST00000375254.3_Missense_Mutation_p.R3922W|UBR4_ENST00000375217.2_Missense_Mutation_p.R3915W|UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375226.2_Missense_Mutation_p.R3898W	p.R3922W			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	78	11767	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3922					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.11764C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187593	0.78789	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.85	2.67	0.31697	.	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.85499	0.1190	10	0.87932	D	0	.	13.6518	0.62314	0.0:0.0:0.5163:0.4837	.	3922	Q5T4S7	UBR4_HUMAN	W	3922;3922;3915;3898	ENSP00000364403:R3922W;ENSP00000364416:R3922W;ENSP00000364365:R3915W;ENSP00000364374:R3898W	ENSP00000364365:R3915W	R	-	1	2	UBR4	19311642	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.609000	0.36858	0.734000	0.32515	0.655000	0.94253	CGG		0.602	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		5	401	0	0	0	1	0	5	401				
DCAF8	50717	broad.mit.edu	37	1	160213756	160213756	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:160213756C>T	ENST00000368073.3	-	3	477	c.43G>A	c.(43-45)Gct>Act	p.A15T	DCAF8_ENST00000610139.1_Missense_Mutation_p.A15T|DCAF8_ENST00000326837.2_Missense_Mutation_p.A15T|DCAF8_ENST00000556710.1_Missense_Mutation_p.A169T|DCAF8_ENST00000475733.1_Missense_Mutation_p.A15T|DCAF8_ENST00000608310.1_Missense_Mutation_p.A169T|DCAF8_ENST00000368074.1_Missense_Mutation_p.A15T			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	15					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TTACCATTAGCTAAGTCTGTT	0.463																																						ENST00000368073.3																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						c.(43-45)Gct>Act		DDB1 and CUL4 associated factor 8							319.0	264.0	283.0					1																	160213756		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160213756C>T	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.43G>A	1.37:g.160213756C>T	ENSP00000357052:p.Ala15Thr					DCAF8_ENST00000556710.1_Missense_Mutation_p.A169T|DCAF8_ENST00000368074.1_Missense_Mutation_p.A15T|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000326837.2_Missense_Mutation_p.A15T	p.A15T			Q5TAQ9	DCAF8_HUMAN			3	477	-			15					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.43G>A	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395161	0.62066	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000419626;ENST00000556710	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.13;-0.13	5.48	5.48	0.80851	.	0.098728	0.39020	U	0.001496	T	0.36552	0.0971	N	0.22421	0.69	0.38321	D	0.943512	P;B;B	0.37330	0.59;0.006;0.0	B;B;B	0.37304	0.246;0.007;0.0	T	0.33163	-0.9879	10	0.13108	T	0.6	.	14.4304	0.67246	0.0:0.8517:0.1483:0.0	.	169;15;15	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	T	15;15;15;169;15;15;15;15;15;169	ENSP00000357052:A15T;ENSP00000318227:A15T;ENSP00000357053:A15T;ENSP00000451989:A169T;ENSP00000451235:A169T	ENSP00000318227:A15T	A	-	1	0	RP11-574F21.3;DCAF8	158480380	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.360000	0.44151	2.575000	0.86900	0.655000	0.94253	GCT		0.463	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		112	771	0	0	0	1	0	112	771				
RBM19	9904	broad.mit.edu	37	12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T	rs201979395		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1906-1908)cGc>cAc		RNA binding motif protein 19		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	47.0	53.0	51.0		1907,1907,1907	2.4	1.0	12		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	636/961,636/961,636/961	114377796	1,13005	2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114377796C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1907G>A	12.37:g.114377796C>T	ENSP00000442053:p.Arg636His					RBM19_ENST00000261741.5_Missense_Mutation_p.R636H|RBM19_ENST00000392561.3_Missense_Mutation_p.R636H	p.R636H	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			15	1985	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		636			RRM 4.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1907G>A	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745338	0.69418	0.0	1.16E-4	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.09073	3.02;3.02;3.02	4.3	2.42	0.29668	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.185022	0.44483	N	0.000448	T	0.19805	0.0476	M	0.65320	2	0.39781	D	0.972299	D	0.71674	0.998	D	0.68353	0.957	T	0.01146	-1.1437	10	0.87932	D	0	-11.8564	6.7325	0.23390	0.0:0.5626:0.0:0.4373	.	636	Q9Y4C8	RBM19_HUMAN	H	636	ENSP00000442053:R636H;ENSP00000376344:R636H;ENSP00000261741:R636H	ENSP00000261741:R636H	R	-	2	0	RBM19	112862179	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.445000	0.66594	0.820000	0.34516	0.561000	0.74099	CGC		0.622	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		6	351	0	0	0	1	0	6	351				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	524	0	0	0	1	0	6	524				
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		AGTACTGGAAGAACGTGGTTG	0.373																																						ENST00000400153.2																			0																																																			0							g.chr15:23205094G>A	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205094G>A								NR_003521.1						0	760	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.373	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		5	83	0	0	0	1	0	5	83				
C11orf40	143501	broad.mit.edu	37	11	4594586	4594586	+	Missense_Mutation	SNP	A	A	T	rs143067877		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:4594586A>T	ENST00000307616.1	-	2	257	c.258T>A	c.(256-258)gaT>gaA	p.D86E		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	86										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTGGCCGTTATCACCCATCA	0.473																																						ENST00000307616.1																			0				large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7						c.(256-258)gaT>gaA		chromosome 11 open reading frame 40							218.0	178.0	192.0					11																	4594586		2201	4298	6499	SO:0001583	missense	143501							g.chr11:4594586A>T		CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.258T>A	11.37:g.4594586A>T	ENSP00000302918:p.Asp86Glu						p.D86E	NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	257	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	86						Missense_Mutation	SNP	ENST00000307616.1	37	c.258T>A	CCDS31354.1	.	.	.	.	.	.	.	.	.	.	A	8.861	0.946988	0.18356	.	.	ENSG00000171987	ENST00000307616	T	0.54866	0.55	1.45	-1.1	0.09872	.	.	.	.	.	T	0.26304	0.0642	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16808	-1.0390	9	0.87932	D	0	.	2.2405	0.04018	0.4644:0.3189:0.2167:0.0	.	86	Q8WZ69	CK040_HUMAN	E	86	ENSP00000302918:D86E	ENSP00000302918:D86E	D	-	3	2	C11orf40	4551162	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.039000	0.03550	-0.336000	0.08438	0.338000	0.21704	GAT		0.473	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	NM_144663		26	381	0	0	0	1	0	26	381				
DNM1P47	100216544	broad.mit.edu	37	15	102293007	102293007	+	RNA	SNP	C	C	G	rs200546955	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:102293007C>G	ENST00000561463.1	+	0	1053									DNM1 pseudogene 47																		CGCGTGGGAACAAGAAGACAC	0.582																																						ENST00000561463.1																			0																																																			0							g.chr15:102293007C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293007C>G														0	1053	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.582	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	48	0	0	0	1	0	5	48				
DMRT3	58524	broad.mit.edu	37	9	990483	990483	+	Silent	SNP	C	C	T	rs145231691	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:990483C>T	ENST00000190165.2	+	2	935	c.897C>T	c.(895-897)tcC>tcT	p.S299S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	299					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCGAACTTCCGCAGAACCTG	0.577													C|||	5	0.000998403	0.003	0.0014	5008	,	,		17312	0.0		0.0	False		,,,				2504	0.0					ENST00000190165.2																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(895-897)tcC>tcT		doublesex and mab-3 related transcription factor 3		C		26,4380	32.6+/-62.9	0,26,2177	111.0	98.0	103.0		897	-8.9	0.0	9	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous	DMRT3	NM_021240.2		0,26,6477	TT,TC,CC		0.0,0.5901,0.1999		299/473	990483	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990483C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.897C>T	9.37:g.990483C>T							p.S299S	NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	935	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	299					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	c.897C>T	CCDS6443.1																																																																																				0.577	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		65	255	0	0	0	1	0	65	255				
OR4D5	219875	broad.mit.edu	37	11	123810641	123810641	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:123810641C>A	ENST00000307033.2	+	1	392	c.318C>A	c.(316-318)ttC>ttA	p.F106L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTTCCACTTCATTGGAGGCA	0.498																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(316-318)ttC>ttA		olfactory receptor, family 4, subfamily D, member 5							128.0	108.0	115.0					11																	123810641		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810641C>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.318C>A	11.37:g.123810641C>A	ENSP00000305970:p.Phe106Leu						p.F106L	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	392	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	106					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.318C>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580034	0.46006	.	.	ENSG00000171014	ENST00000307033	T	0.00408	7.54	5.5	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.132917	0.34386	N	0.004004	T	0.00178	0.0005	N	0.04063	-0.285	0.32942	D	0.518614	B	0.17038	0.02	B	0.18871	0.023	T	0.33111	-0.9881	10	0.13470	T	0.59	-18.5794	8.7808	0.34789	0.0:0.8248:0.0:0.1752	.	106	Q8NGN0	OR4D5_HUMAN	L	106	ENSP00000305970:F106L	ENSP00000305970:F106L	F	+	3	2	OR4D5	123315851	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.448000	0.21726	2.575000	0.86900	0.655000	0.94253	TTC		0.498	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		56	319	1	0	7.89702e-26	1	8.83583e-26	56	319				
SLC4A5	57835	broad.mit.edu	37	2	74477486	74477486	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:74477486G>A	ENST00000377634.4	-	17	2036	c.1637C>T	c.(1636-1638)gCc>gTc	p.A546V	SLC4A5_ENST00000377632.1_Missense_Mutation_p.A546V|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.A546V|SLC4A5_ENST00000394019.2_Missense_Mutation_p.A546V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.A546V|SLC4A5_ENST00000346834.4_Missense_Mutation_p.A546V|SLC4A5_ENST00000359484.4_Missense_Mutation_p.A482V|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.A482V					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATTGTCGGTGGCATCCCCCAG	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1636-1638)gCc>gTc		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							91.0	89.0	90.0					2																	74477486		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74477486G>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1637C>T	2.37:g.74477486G>A	ENSP00000366861:p.Ala546Val		OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1153	SLC4A5_ENST00000377632.1_Missense_Mutation_p.A546V|SLC4A5_ENST00000423644.1_Missense_Mutation_p.A546V|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.A482V|SLC4A5_ENST00000377634.4_Missense_Mutation_p.A546V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.A546V|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.A546V|SLC4A5_ENST00000358683.4_Missense_Mutation_p.A482V	p.A546V	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			17	2034	-			546						Missense_Mutation	SNP	ENST00000377634.4	37	c.1637C>T	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332318	0.95733	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.65	5.65	0.86999	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	M	0.84846	2.72	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.966;1.0;1.0;1.0;0.974	D	0.91427	0.5163	10	0.87932	D	0	.	17.2626	0.87075	0.0:0.0:1.0:0.0	.	546;546;482;546;546	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	V	546;546;546;482;546;482;546;546;546;546	ENSP00000377587:A546V;ENSP00000251768:A546V;ENSP00000352461:A482V;ENSP00000395804:A546V;ENSP00000351513:A482V;ENSP00000350475:A546V;ENSP00000366859:A546V;ENSP00000366861:A546V;ENSP00000405678:A546V	ENSP00000251768:A546V	A	-	2	0	SLC4A5	74330994	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GCC		0.527	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			5	439	0	0	0	1	0	5	439				
SARM1	23098	broad.mit.edu	37	17	26715525	26715525	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:26715525G>A	ENST00000457710.3	+	7	2259	c.1788G>A	c.(1786-1788)atG>atA	p.M596I	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	630	TIR.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		ACAAGTGCATGCAAGACCATG	0.542																																						ENST00000457710.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1786-1788)atG>atA		sterile alpha and TIR motif containing 1							236.0	204.0	215.0					17																	26715525		2203	4300	6503	SO:0001583	missense	23098				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	g.chr17:26715525G>A	AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1788G>A	17.37:g.26715525G>A	ENSP00000406738:p.Met596Ile					SARM1_ENST00000379061.4_3'UTR	p.M596I	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	2259	+	all_lung(13;0.000533)|Lung NSC(42;0.00171)		630			TIR.		O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	ENST00000457710.3	37	c.1788G>A		.	.	.	.	.	.	.	.	.	.	G	11.45	1.643477	0.29246	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.39	3.4	0.38934	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.134186	0.64402	N	0.000002	T	0.27313	0.0670	.	.	.	0.45676	D	0.998592	B	0.21071	0.051	B	0.17433	0.018	T	0.14309	-1.0477	8	0.02654	T	1	-27.5633	9.6035	0.39619	0.0742:0.1415:0.7842:0.0	.	630	Q6SZW1	SARM1_HUMAN	I	628;596	.	ENSP00000003834:M596I	M	+	3	0	SARM1	23739652	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.795000	0.85887	0.832000	0.34804	-0.878000	0.02970	ATG		0.542	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000255679.3	NM_015077		7	900	0	0	0	1	0	7	900				
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522																																						ENST00000564451.1																			1	Substitution - coding silent(1)	p.T398T(1)	kidney(1)																																																0							g.chr16:90162462A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162462A>G						TUBB8P7_ENST00000567960.1_RNA								0	1815	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	475	0	0	0	1	0	8	475				
IGDCC4	57722	broad.mit.edu	37	15	65678310	65678310	+	Silent	SNP	T	T	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:65678310T>G	ENST00000352385.2	-	18	3248	c.3039A>C	c.(3037-3039)ccA>ccC	p.P1013P	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1013						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CATGGGCAGCTGGGGGGCTGG	0.667											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(3037-3039)ccA>ccC		immunoglobulin superfamily, DCC subclass, member 4							10.0	12.0	11.0					15																	65678310		2109	4164	6273	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65678310T>G		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3039A>C	15.37:g.65678310T>G			OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.P1013P	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			18	3248	-			1013					Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.3039A>C	CCDS10206.1																																																																																				0.667	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		8	78	0	0	0	1	0	8	78				
MAP2K4	6416	broad.mit.edu	37	17	11998898	11998898	+	Missense_Mutation	SNP	C	C	T	rs375500789		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:11998898C>T	ENST00000353533.5	+	4	463	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.R145W	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.R134W(2)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CCAGAGAATTCGGTCAACAGT	0.338			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		13	Whole gene deletion(10)|Substitution - Missense(2)|Unknown(1)	p.0?(10)|p.R134W(2)|p.?(1)	breast(4)|ovary(4)|large_intestine(2)|biliary_tract(1)|skin(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(433-435)Cgg>Tgg		mitogen-activated protein kinase kinase 4							112.0	109.0	110.0					17																	11998898		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:11998898C>T	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.400C>T	17.37:g.11998898C>T	ENSP00000262445:p.Arg134Trp					MAP2K4_ENST00000353533.5_Missense_Mutation_p.R134W	p.R145W			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	5	486	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	134			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.433C>T	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600257	0.46423	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.66815	-0.23;-0.23	5.97	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	D	0.85848	0.1402	10	0.87932	D	0	.	14.9277	0.70893	0.1438:0.8562:0.0:0.0	.	6;145;134	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	W	134;145;111;6	ENSP00000262445:R134W;ENSP00000410402:R145W	ENSP00000262445:R134W	R	+	1	2	MAP2K4	11939623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.735000	0.62051	2.835000	0.97688	0.591000	0.81541	CGG		0.338	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			34	230	0	0	0	1	0	34	230				
NTM	50863	broad.mit.edu	37	11	132177680	132177680	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:132177680C>T	ENST00000374786.1	+	4	1103	c.624C>T	c.(622-624)gcC>gcT	p.A208A	NTM_ENST00000427481.2_Silent_p.A199A|NTM_ENST00000374791.3_Silent_p.A208A|NTM_ENST00000425719.2_Silent_p.A208A|NTM_ENST00000539799.1_Silent_p.A208A|NTM_ENST00000374784.1_Silent_p.A208A|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	208	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ATGACGTGGCCGCGCCCGTGG	0.582																																						ENST00000374786.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.(622-624)gcC>gcT		neurotrimin							89.0	77.0	81.0					11																	132177680		2201	4297	6498	SO:0001819	synonymous_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132177680C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.624C>T	11.37:g.132177680C>T						NTM_ENST00000539799.1_Silent_p.A208A|NTM_ENST00000374791.3_Silent_p.A208A|NTM_ENST00000425719.2_Silent_p.A208A|NTM_ENST00000427481.2_Silent_p.A199A|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Silent_p.A208A	p.A208A	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			4	1103	+			208			Ig-like C2-type 2.		A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	c.624C>T	CCDS8491.1																																																																																				0.582	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		26	151	0	0	0	1	0	26	151				
MAK	4117	broad.mit.edu	37	6	10764813	10764813	+	Missense_Mutation	SNP	G	G	A	rs199594233		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:10764813G>A	ENST00000313243.2	-	14	2126	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.R582W|MAK_ENST00000474039.1_Missense_Mutation_p.R582W|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_3'UTR			P20794	MAK_HUMAN	male germ cell-associated kinase	582					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)	p.R582R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AACTGCCCCCGACCAGTTTTT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		18592	0.0		0.001	False		,,,				2504	0.0					ENST00000313243.2																			1	Substitution - coding silent(1)	p.R582R(1)	lung(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(1744-1746)Cgg>Tgg		male germ cell-associated kinase							88.0	90.0	89.0					6																	10764813		2203	4300	6503	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10764813G>A		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1744C>T	6.37:g.10764813G>A	ENSP00000313021:p.Arg582Trp					MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.R582W|MAK_ENST00000354489.2_Missense_Mutation_p.R582W|RP11-637O19.3_ENST00000480294.1_Intron	p.R582W			P20794	MAK_HUMAN			14	2126	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	582					F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.1744C>T	CCDS4516.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.7	4.660715	0.88154	.	.	ENSG00000111837	ENST00000313243;ENST00000354489	T;T	0.74002	-0.8;-0.8	5.66	5.66	0.87406	.	0.265585	0.36932	N	0.002337	D	0.83704	0.5312	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	P	0.62382	0.901	D	0.85294	0.1069	10	0.87932	D	0	.	19.3453	0.94361	0.0:0.0:1.0:0.0	.	582	P20794	MAK_HUMAN	W	582	ENSP00000313021:R582W;ENSP00000346484:R582W	ENSP00000313021:R582W	R	-	1	2	MAK	10872799	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	6.187000	0.72039	2.648000	0.89879	0.655000	0.94253	CGG		0.398	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		87	510	0	0	0	1	0	87	510				
LRRC37A3	374819	broad.mit.edu	37	17	62893346	62893346	+	Silent	SNP	C	C	A	rs201745948		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:62893346C>A	ENST00000584306.1	-	3	560	c.30G>T	c.(28-30)gcG>gcT	p.A10A	RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000319651.5_Silent_p.A10A|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.2_ENST00000581622.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	10						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACATGACACACGCTAGTGCCG	0.572																																						ENST00000584306.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(28-30)gcG>gcT		leucine rich repeat containing 37, member A3							63.0	135.0	111.0					17																	62893346		2178	4300	6478	SO:0001819	synonymous_variant	374819					integral to membrane		g.chr17:62893346C>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.30G>T	17.37:g.62893346C>A						LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000319651.5_Silent_p.A10A|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584131.1_RNA	p.A10A	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			3	560	-			10					Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	37	c.30G>T	CCDS32708.1																																																																																				0.572	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		10	910	1	0	2.17888e-05	1	2.26377e-05	10	910				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		9	264	0	0	0	1	0	9	264				
DMBT1	1755	broad.mit.edu	37	10	124339199	124339199	+	Missense_Mutation	SNP	A	A	G	rs199611914	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:124339199A>G	ENST00000338354.3	+	10	891	c.785A>G	c.(784-786)tAc>tGc	p.Y262C	DMBT1_ENST00000344338.3_Missense_Mutation_p.Y262C|DMBT1_ENST00000368956.2_Missense_Mutation_p.Y262C|DMBT1_ENST00000330163.4_Missense_Mutation_p.Y262C|DMBT1_ENST00000368955.3_Missense_Mutation_p.Y262C|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.Y262C			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	262	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTGATGACTACTGGGACACC	0.617													A|||	28	0.00559105	0.0	0.0	5008	,	,		19813	0.0		0.0	False		,,,				2504	0.0286				Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(784-786)tAc>tGc		deleted in malignant brain tumors 1							240.0	237.0	238.0					10																	124339199		2011	4187	6198	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339199A>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.785A>G	10.37:g.124339199A>G	ENSP00000342210:p.Tyr262Cys					DMBT1_ENST00000344338.3_Missense_Mutation_p.Y262C|DMBT1_ENST00000330163.4_Missense_Mutation_p.Y262C|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.Y262C|DMBT1_ENST00000368955.3_Missense_Mutation_p.Y262C|DMBT1_ENST00000338354.3_Missense_Mutation_p.Y262C	p.Y262C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			10	891	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	262			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.785A>G		.	.	.	.	.	.	.	.	.	.	a	6.477	0.456123	0.12283	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	4.07	-6.64	0.01801	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.28764	0.0713	L	0.35414	1.06	0.39884	D	0.973673	B;P;B;D;D	0.62365	0.346;0.867;0.218;0.991;0.973	B;P;B;P;P	0.57502	0.382;0.77;0.163;0.822;0.796	T	0.51756	-0.8665	9	0.39692	T	0.17	.	7.858	0.29493	0.424:0.3155:0.2604:0.0	.	262;262;262;262;262	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	C	262	ENSP00000342210:Y262C;ENSP00000343175:Y262C;ENSP00000327747:Y262C;ENSP00000357905:Y262C;ENSP00000357951:Y262C;ENSP00000357952:Y262C	ENSP00000331522:Y262C	Y	+	2	0	DMBT1	124329189	0.000000	0.05858	0.004000	0.12327	0.055000	0.15305	-4.873000	0.00175	-1.021000	0.03350	-1.747000	0.00681	TAC		0.617	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		12	1981	0	0	0	1	0	12	1981				
CPXM2	119587	broad.mit.edu	37	10	125539748	125539748	+	Missense_Mutation	SNP	G	G	A	rs372846460		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:125539748G>A	ENST00000241305.3	-	7	1067	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	RP11-391M7.3_ENST00000446888.1_RNA|CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	305					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATCTCGTTCCGGCGGTGATAA	0.448																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(913-915)Cgg>Tgg		carboxypeptidase X (M14 family), member 2		G	TRP/ARG	0,4406		0,0,2203	176.0	172.0	173.0		913	2.6	1.0	10		173	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPXM2	NM_198148.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	305/757	125539748	1,13005	2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125539748G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.913C>T	10.37:g.125539748G>A	ENSP00000241305:p.Arg305Trp					CPXM2_ENST00000368854.3_5'UTR	p.R305W	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	7	1067	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	305					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.913C>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555273	0.45487	0.0	1.16E-4	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.96459	-4.02	4.62	2.6	0.31112	.	0.059335	0.64402	D	0.000003	D	0.95996	0.8696	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.94907	0.8061	10	0.87932	D	0	-16.204	7.5893	0.28012	0.0955:0.0:0.684:0.2205	.	305	Q8N436	CPXM2_HUMAN	W	305;138;305	ENSP00000241305:R305W	ENSP00000241305:R305W	R	-	1	2	CPXM2	125529738	1.000000	0.71417	0.998000	0.56505	0.342000	0.28953	2.618000	0.46393	1.169000	0.42739	-0.136000	0.14681	CGG		0.448	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		59	547	0	0	0	1	0	59	547				
CDYL	9425	broad.mit.edu	37	6	4892101	4892101	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:4892101C>T	ENST00000328908.5	+	4	472	c.341C>T	c.(340-342)aCg>aTg	p.T114M	CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Missense_Mutation_p.T60M|CDYL_ENST00000449732.2_5'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	114	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGACGCCACACGGAGAAGCAG	0.507																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(340-342)aCg>aTg		chromodomain protein, Y-like							149.0	146.0	147.0					6																	4892101		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4892101C>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.341C>T	6.37:g.4892101C>T	ENSP00000330512:p.Thr114Met					CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.T60M|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR	p.T114M			Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	4	472	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	114			Chromo.		A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.341C>T		.	.	.	.	.	.	.	.	.	.	C	8.820	0.937390	0.18206	.	.	ENSG00000153046	ENST00000328908;ENST00000397588	T;T	0.55930	0.97;0.49	5.79	1.46	0.22682	Chromo domain-like (1);Chromo domain/shadow (2);	0.437153	0.26029	N	0.026769	T	0.19127	0.0459	L	0.57536	1.79	0.09310	N	0.999993	B;B	0.27140	0.037;0.169	B;B	0.20577	0.025;0.03	T	0.13176	-1.0519	10	0.28530	T	0.3	.	2.7961	0.05401	0.3942:0.3057:0.2149:0.0852	.	60;114	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	M	114;60	ENSP00000330512:T114M;ENSP00000380718:T60M	ENSP00000330512:T114M	T	+	2	0	CDYL	4837100	0.057000	0.20700	0.224000	0.23877	0.400000	0.30750	0.442000	0.21628	0.327000	0.23409	0.650000	0.86243	ACG		0.507	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		5	256	0	0	0	1	0	5	256				
KRTAP19-3	337970	broad.mit.edu	37	21	31864178	31864178	+	Missense_Mutation	SNP	C	C	T	rs371263018		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr21:31864178C>T	ENST00000334063.4	-	1	97	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	33						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						ACCCAGTCTGCGGAAGCTGCC	0.582																																						ENST00000334063.4																			0				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						c.(97-99)cGc>cAc		keratin associated protein 19-3		C	HIS/ARG	0,4406		0,0,2203	149.0	155.0	153.0		98	-4.8	0.0	21		153	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRTAP19-3	NM_181609.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	33/82	31864178	1,13005	2203	4300	6503	SO:0001583	missense	337970					intermediate filament		g.chr21:31864178C>T	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.98G>A	21.37:g.31864178C>T	ENSP00000386376:p.Arg33His						p.R33H	NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN			1	97	-			33						Missense_Mutation	SNP	ENST00000334063.4	37	c.98G>A	CCDS13596.1	.	.	.	.	.	.	.	.	.	.	C	9.864	1.197214	0.22037	0.0	1.16E-4	ENSG00000244025	ENST00000334063	T	0.10668	2.85	4.72	-4.85	0.03142	.	.	.	.	.	T	0.07324	0.0185	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37033	-0.9723	8	0.87932	D	0	.	6.2846	0.21027	0.0:0.2226:0.3779:0.3996	.	33	Q7Z4W3	KR193_HUMAN	H	33	ENSP00000386376:R33H	ENSP00000386376:R33H	R	-	2	0	KRTAP19-3	30786049	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.462000	0.06704	-1.247000	0.02507	-0.218000	0.12543	CGC		0.582	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2			141	966	0	0	0	1	0	141	966				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			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.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	419	0	0	0	1	0	6	419				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	0							g.chr20:29628278G>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.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	494	0	0	0	1	0	6	494				
FAM104B	90736	broad.mit.edu	37	X	55172659	55172659	+	Missense_Mutation	SNP	A	A	G	rs5018687		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:55172659A>G	ENST00000358460.4	-	3	359	c.206T>C	c.(205-207)aTt>aCt	p.I69T	FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.I68T|FAM104B_ENST00000425133.2_Missense_Mutation_p.I70T|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000332132.4_Missense_Mutation_p.I70T|FAM104B_ENST00000477847.2_Missense_Mutation_p.I66T			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	69								p.I70T(2)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TTCAGTAACAATCTGGTTTAA	0.458																																						ENST00000425133.2																			2	Substitution - Missense(2)	p.I70T(2)	endometrium(2)	endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(208-210)aTt>aCt		family with sequence similarity 104, member B							141.0	113.0	123.0					X																	55172659		2203	4300	6503	SO:0001583	missense	90736							g.chrX:55172659A>G	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.206T>C	X.37:g.55172659A>G	ENSP00000364101:p.Ile69Thr					FAM104B_ENST00000358460.4_Missense_Mutation_p.I69T|FAM104B_ENST00000489298.1_Missense_Mutation_p.I68T|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000332132.4_Missense_Mutation_p.I70T|FAM104B_ENST00000477847.2_Missense_Mutation_p.I66T	p.I70T	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	247	-			69					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	37	c.209T>C	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	a	7.632	0.678969	0.14841	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	1.6	-0.877	0.10621	.	0.273281	0.24341	N	0.039374	T	0.34424	0.0897	N	0.20685	0.6	0.09310	N	1	B;B;B	0.33000	0.007;0.393;0.393	B;P;B	0.51701	0.003;0.677;0.291	T	0.41215	-0.9521	10	0.21014	T	0.42	-1.7781	4.1887	0.10411	0.5262:0.0:0.4738:0.0	rs5018687;rs5018687	70;69;70	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	T	69;70;70;66;68	ENSP00000364101:I69T;ENSP00000333394:I70T;ENSP00000397188:I70T;ENSP00000421161:I66T;ENSP00000423164:I68T	ENSP00000333394:I70T	I	-	2	0	FAM104B	55189384	0.000000	0.05858	0.000000	0.03702	0.238000	0.25445	-0.374000	0.07484	-0.346000	0.08312	0.356000	0.21956	ATT		0.458	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		6	285	0	0	0	1	0	6	285				
MAP4K2	5871	broad.mit.edu	37	11	64566932	64566932	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:64566932G>A	ENST00000294066.2	-	14	1105	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	MAP4K2_ENST00000468062.1_5'Flank|MAP4K2_ENST00000377350.3_Silent_p.G338G	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	338					activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TGCGTGGGGCGCCAAATTTCA	0.597																																						ENST00000294066.2																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(1012-1014)ggC>ggT		mitogen-activated protein kinase kinase kinase kinase 2							79.0	75.0	76.0					11																	64566932		2201	4297	6498	SO:0001819	synonymous_variant	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64566932G>A	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1014C>T	11.37:g.64566932G>A						MAP4K2_ENST00000377350.3_Silent_p.G338G	p.G338G	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN			14	1105	-			338					Q86VU3	Silent	SNP	ENST00000294066.2	37	c.1014C>T	CCDS8082.1																																																																																				0.597	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		7	392	0	0	0	1	0	7	392				
FLG2	388698	broad.mit.edu	37	1	152326017	152326017	+	Missense_Mutation	SNP	C	C	A	rs200173482		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:152326017C>A	ENST00000388718.5	-	3	4317	c.4245G>T	c.(4243-4245)agG>agT	p.R1415S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1415					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGTTGTCCTGGACCCTC	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4243-4245)agG>agT		filaggrin family member 2							268.0	254.0	259.0					1																	152326017		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326017C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4245G>T	1.37:g.152326017C>A	ENSP00000373370:p.Arg1415Ser					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.R1415S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4317	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1415					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4245G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	1.080	-0.667351	0.03428	.	.	ENSG00000143520	ENST00000388718	T	0.03663	3.85	3.86	-7.71	0.01254	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.47886	-0.9082	9	0.07325	T	0.83	0.4423	1.4492	0.02371	0.1718:0.1676:0.3822:0.2784	.	1415	Q5D862	FILA2_HUMAN	S	1415	ENSP00000373370:R1415S	ENSP00000373370:R1415S	R	-	3	2	FLG2	150592641	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-10.701000	0.00005	-2.959000	0.00290	-0.514000	0.04452	AGG		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	1229	1	0	2.80697e-09	1	3.03457e-09	9	1229				
CACNA1H	8912	broad.mit.edu	37	16	1260913	1260913	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:1260913G>A	ENST00000348261.5	+	21	4413	c.4165G>A	c.(4165-4167)Gcc>Acc	p.A1389T	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1389T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1389T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1389					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGCTGGTGGCGCCAAGATCCT	0.687																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4165-4167)Gcc>Acc		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						92.0	108.0	103.0					16																	1260913		2193	4282	6475	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1260913G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4165G>A	16.37:g.1260913G>A	ENSP00000334198:p.Ala1389Thr					CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1389T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1389T	p.A1389T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			21	4413	+		Hepatocellular(780;0.00369)	1389					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4165G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797039	0.31777	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98493	-4.96;-4.96	4.25	4.25	0.50352	Ion transport (1);	0.185020	0.47852	D	0.000214	D	0.96827	0.8964	N	0.13371	0.34	0.33419	D	0.579653	D;P;P;D;D	0.89917	0.996;0.806;0.798;0.988;1.0	P;B;B;P;D	0.76575	0.878;0.423;0.153;0.859;0.988	D	0.93939	0.7221	10	0.06757	T	0.87	.	16.1494	0.81602	0.0:0.0:1.0:0.0	.	130;130;130;1389;1389	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	T	1389	ENSP00000334198:A1389T;ENSP00000351401:A1389T	ENSP00000334198:A1389T	A	+	1	0	CACNA1H	1200914	1.000000	0.71417	0.941000	0.38009	0.666000	0.39218	7.202000	0.77856	2.367000	0.80283	0.591000	0.81541	GCC		0.687	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		7	697	0	0	0	1	0	7	697				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA22_ENST00000383907.1_RNA|SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		7	66	1	0	0.0167234	1	0.0169351	7	66				
KRTAP4-2	85291	broad.mit.edu	37	17	39334112	39334112	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:39334112C>T	ENST00000377726.2	-	1	348	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	102	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)		p.R102H(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCTGGGGCGGCAGCAGGT	0.657																																						ENST00000377726.2																			1	Substitution - Missense(1)	p.R102H(1)	upper_aerodigestive_tract(1)	kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7						c.(304-306)cGc>cAc		keratin associated protein 4-2							59.0	70.0	66.0					17																	39334112		2202	4296	6498	SO:0001583	missense	85291					keratin filament		g.chr17:39334112C>T	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.305G>A	17.37:g.39334112C>T	ENSP00000366955:p.Arg102His						p.R102H	NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	348	-		Breast(137;0.000496)	102			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.305G>A	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	15.62	2.886123	0.51908	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.01505	4.82	4.21	0.00697	0.14069	.	5.476650	0.00783	U	0.001287	T	0.04634	0.0126	M	0.74467	2.265	0.09310	N	1	D	0.53885	0.963	P	0.46389	0.515	T	0.42999	-0.9418	10	0.33141	T	0.24	.	6.1825	0.20480	0.5372:0.303:0.1599:0.0	.	102	Q9BYR5	KRA42_HUMAN	H	102;219	ENSP00000366955:R102H	ENSP00000366955:R102H	R	-	2	0	KRTAP4-2	36587638	0.000000	0.05858	0.005000	0.12908	0.538000	0.34931	-2.424000	0.01029	0.251000	0.21505	0.609000	0.83330	CGC		0.657	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			78	426	0	0	0	1	0	78	426				
CDC27	996	broad.mit.edu	37	17	45219271	45219271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:45219271C>T	ENST00000066544.3	-	12	1592	c.1499G>A	c.(1498-1500)tGg>tAg	p.W500*	CDC27_ENST00000531206.1_Nonsense_Mutation_p.W506*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.W499*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.W439*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	500					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GCACAGTACCCAACCAGTATT	0.358																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1498-1500)tGg>tAg		cell division cycle 27							104.0	110.0	108.0					17																	45219271		2203	4299	6502	SO:0001587	stop_gained	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219271C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1499G>A	17.37:g.45219271C>T	ENSP00000066544:p.Trp500*					CDC27_ENST00000446365.2_Nonsense_Mutation_p.W439*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.W506*|CDC27_ENST00000527547.1_Nonsense_Mutation_p.W499*	p.W500*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			12	1592	-			500					G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	c.1499G>A	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	38	6.704610	0.97776	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4639	17.8151	0.88630	0.0:1.0:0.0:0.0	.	.	.	.	X	500;506;439;499	.	ENSP00000066544:W500X	W	-	2	0	CDC27	42574270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	2.810000	0.96702	0.650000	0.86243	TGG		0.358	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			9	908	0	0	0	1	0	9	908				
SMU1	55234	broad.mit.edu	37	9	33068870	33068870	+	Silent	SNP	G	G	A	rs113018466		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:33068870G>A	ENST00000397149.3	-	4	503	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CACTGACTTCGCCAGCTAAGG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19589	0.0		0.0	False		,,,				2504	0.0					ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(451-453)ggC>ggT		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)		G		10,4396	17.9+/-39.9	0,10,2193	191.0	152.0	166.0		453	-0.1	1.0	9	dbSNP_132	166	0,8600		0,0,4300	no	coding-synonymous	SMU1	NM_018225.2		0,10,6493	AA,AG,GG		0.0,0.227,0.0769		151/514	33068870	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33068870G>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.453C>T	9.37:g.33068870G>A						SMU1_ENST00000536631.1_5'UTR	p.G151G	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	4	503	-			151					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.453C>T	CCDS6534.1																																																																																				0.507	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		4	193	0	0	0	1	0	4	193				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			9	231	0	0	0	1	0	9	231				
NBPF3	84224	broad.mit.edu	37	1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G	rs201055589		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:21806606T>G	ENST00000318249.5	+	11	1621	c.1271T>G	c.(1270-1272)tTt>tGt	p.F424C	NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318220.6_Missense_Mutation_p.F368C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1102-1104)tTt>tGt		neuroblastoma breakpoint family, member 3							63.0	41.0	49.0					1																	21806606		2154	3794	5948	SO:0001583	missense	84224					cytoplasm		g.chr1:21806606T>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1271T>G	1.37:g.21806606T>G	ENSP00000316782:p.Phe424Cys					NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C	p.F368C			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2151	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	424			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1103T>G	CCDS216.1	126	0.057692307692307696	13	0.026422764227642278	16	0.04419889502762431	35	0.06118881118881119	62	0.08179419525065963	.	0.001	-4.102467	0.00002	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.00073	0.0002	N	0.00075	-2.25	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.25187	-1.0139	8	0.02654	T	1	.	.	.	.	.	354;412;424	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	C	354;368;424;412;368	ENSP00000415711:F354C;ENSP00000316739:F368C;ENSP00000316782:F424C;ENSP00000340336:F412C;ENSP00000391865:F368C	ENSP00000316739:F368C	F	+	2	0	NBPF3	21679193	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	-1.071000	0.03437	-2.951000	0.00293	-1.884000	0.00543	TTT		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		6	90	0	0	0	1	0	6	90				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			6	212	1	0	1	1	1	6	212				
KIF1A	547	broad.mit.edu	37	2	241712602	241712602	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:241712602C>T	ENST00000320389.7	-	13	1267	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	KIF1A_ENST00000498729.2_Missense_Mutation_p.R370H	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	370					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTTCAGCTCGCGGATCAGCTT	0.617																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1108-1110)cGc>cAc		kinesin family member 1A							81.0	88.0	86.0					2																	241712602		2195	4297	6492	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241712602C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1109G>A	2.37:g.241712602C>T	ENSP00000322791:p.Arg370His					KIF1A_ENST00000320389.7_Missense_Mutation_p.R370H	p.R370H	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	13	1355	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	370					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1109G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.777059	0.90195	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76186	-0.89;-0.92;-1.0	3.83	3.83	0.44106	.	0.000000	0.85682	U	0.000000	D	0.90225	0.6944	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	D	0.93733	0.7043	10	0.87932	D	0	.	15.7385	0.77866	0.0:1.0:0.0:0.0	.	370;370;370	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	H	370	ENSP00000322791:R370H;ENSP00000438388:R370H;ENSP00000384231:R370H	ENSP00000322791:R370H	R	-	2	0	KIF1A	241361275	1.000000	0.71417	0.853000	0.33588	0.956000	0.61745	7.626000	0.83164	1.688000	0.51068	0.491000	0.48974	CGC		0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		39	216	0	0	0	1	0	39	216				
PPIP5K2	23262	broad.mit.edu	37	5	102509562	102509562	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:102509562G>A	ENST00000358359.3	+	21	2924	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	PPIP5K2_ENST00000321521.9_Splice_Site_p.V805V|PPIP5K2_ENST00000414217.1_Splice_Site_p.V805V|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	805					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTAATTTTAGGTATTCTAGAG	0.303																																						ENST00000321521.9																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.e21-1		diphosphoinositol pentakisphosphate kinase 2							127.0	124.0	125.0					5																	102509562		2202	4299	6501	SO:0001630	splice_region_variant	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102509562G>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2415-1G>A	5.37:g.102509562G>A						PPIP5K2_ENST00000358359.3_Splice_Site_p.V805_splice|PPIP5K2_ENST00000414217.1_Splice_Site_p.V805_splice|PPIP5K2_ENST00000513500.1_3'UTR	p.V805_splice			O43314	VIP2_HUMAN			21	2988	+			805					A1NI53|A6NGS8|Q8TB50	Splice_Site	SNP	ENST00000358359.3	37	c.2414_splice																																																																																					0.303	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216	Silent	36	214	0	0	0	1	0	36	214				
PARD3	56288	broad.mit.edu	37	10	34663823	34663823	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:34663823G>A	ENST00000374789.3	-	11	1972	c.1647C>T	c.(1645-1647)gaC>gaT	p.D549D	PARD3_ENST00000374768.1_5'Flank|PARD3_ENST00000350537.4_Silent_p.D549D|PARD3_ENST00000374790.3_Silent_p.D505D|PARD3_ENST00000374776.1_Silent_p.D549D|PARD3_ENST00000374773.1_Silent_p.D549D|PARD3_ENST00000544292.1_Silent_p.D279D|PARD3_ENST00000545693.1_Silent_p.D549D|PARD3_ENST00000374788.3_Silent_p.D549D|PARD3_ENST00000346874.4_Silent_p.D549D|PARD3_ENST00000374794.3_Silent_p.D505D|PARD3_ENST00000340077.5_Silent_p.D549D|PARD3_ENST00000545260.1_Silent_p.D505D	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	549					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGTGGAAGGCGTCTTCCTGGC	0.478																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(1645-1647)gaC>gaT		par-3 family cell polarity regulator							179.0	180.0	179.0					10																	34663823		2203	4300	6503	SO:0001819	synonymous_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34663823G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1647C>T	10.37:g.34663823G>A						PARD3_ENST00000374773.1_Silent_p.D549D|PARD3_ENST00000346874.4_Silent_p.D549D|PARD3_ENST00000374776.1_Silent_p.D549D|PARD3_ENST00000545693.1_Silent_p.D549D|PARD3_ENST00000545260.1_Silent_p.D505D|PARD3_ENST00000350537.4_Silent_p.D549D|PARD3_ENST00000544292.1_Silent_p.D279D|PARD3_ENST00000374794.3_Silent_p.D505D|PARD3_ENST00000374788.3_Silent_p.D549D|PARD3_ENST00000374790.3_Silent_p.D505D|PARD3_ENST00000340077.5_Silent_p.D549D	p.D549D	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			11	1972	-		Breast(68;0.0707)	549					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	c.1647C>T	CCDS7178.1																																																																																				0.478	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		137	785	0	0	0	1	0	137	785				
CYP21A1P	1590	broad.mit.edu	37	6	31975463	31975463	+	5'Flank	SNP	T	T	C	rs370433041	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:31975463T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GCAGCGACTGTAGGAGGAGCT	0.657													C|||	271	0.0541134	0.1324	0.0303	5008	,	,		12708	0.0288		0.0268	False		,,,				2504	0.0194					ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975463T>C																													6.37:g.31975463T>C	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1386	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.657	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	51	0	0	0	1	0	3	51				
ZNF845	91664	broad.mit.edu	37	19	53855284	53855284	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26.0	24.0	25.0					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		8	487	0	0	0	1	0	8	487				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	245	0	0	0	1	0	6	245				
DNMT1	1786	broad.mit.edu	37	19	10254528	10254528	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:10254528G>A	ENST00000340748.4	-	28	3217	c.2982C>T	c.(2980-2982)ggC>ggT	p.G994G	DNMT1_ENST00000540357.1_Silent_p.G994G|DNMT1_ENST00000359526.4_Silent_p.G1010G|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	994	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTTTGATCCGGCCAATTCGGT	0.542																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2980-2982)ggC>ggT		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						254.0	241.0	245.0					19																	10254528		2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10254528G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2982C>T	19.37:g.10254528G>A						DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Silent_p.G994G|DNMT1_ENST00000359526.4_Silent_p.G1010G	p.G994G			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		28	3217	-			994			BAH 2.		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.2982C>T	CCDS12228.1																																																																																				0.542	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		8	1289	0	0	0	1	0	8	1289				
XPO5	57510	broad.mit.edu	37	6	43540277	43540277	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:43540277T>C	ENST00000265351.7	-	3	476	c.266A>G	c.(265-267)tAt>tGt	p.Y89C		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	89	Necessary for interaction with Ran.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTTCTTCAGATACACCTTCTC	0.423																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(265-267)tAt>tGt		exportin 5							205.0	192.0	196.0					6																	43540277		1978	4169	6147	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43540277T>C	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.266A>G	6.37:g.43540277T>C	ENSP00000265351:p.Tyr89Cys						p.Y89C	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		3	476	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		89			Necessary for interaction with Ran.		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.266A>G	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122120	0.37436	.	.	ENSG00000124571	ENST00000265351	T	0.67523	-0.27	4.88	0.572	0.17357	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (1);	0.296130	0.34411	N	0.003997	T	0.27169	0.0666	N	0.20986	0.625	0.47374	D	0.999402	B	0.02656	0.0	B	0.01281	0.0	T	0.07309	-1.0779	10	0.39692	T	0.17	-8.5042	5.3596	0.16081	0.3917:0.0735:0.0:0.5348	.	89	Q9HAV4	XPO5_HUMAN	C	89	ENSP00000265351:Y89C	ENSP00000265351:Y89C	Y	-	2	0	XPO5	43648255	0.998000	0.40836	0.987000	0.45799	0.975000	0.68041	2.130000	0.42064	0.258000	0.21686	-0.336000	0.08194	TAT		0.423	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		8	339	0	0	0	1	0	8	339				
ITGAX	3687	broad.mit.edu	37	16	31373160	31373160	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:31373160C>T	ENST00000268296.4	+	10	1137	c.1016C>T	c.(1015-1017)aCg>aTg	p.T339M	ITGAX_ENST00000562522.1_Missense_Mutation_p.T339M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	339	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCCCAGGTACGGAGACCACA	0.572																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1015-1017)aCg>aTg		integrin, alpha X (complement component 3 receptor 4 subunit)							133.0	114.0	120.0					16																	31373160		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31373160C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1016C>T	16.37:g.31373160C>T	ENSP00000268296:p.Thr339Met					ITGAX_ENST00000562522.1_Missense_Mutation_p.T339M	p.T339M	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			10	1137	+			339			VWFA.		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1016C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	c	28.1	4.894262	0.91889	.	.	ENSG00000140678	ENST00000268296	T	0.72615	-0.67	4.91	4.91	0.64330	.	.	.	.	.	T	0.82199	0.4985	M	0.83384	2.64	0.41043	D	0.985244	D	0.89917	1.0	P	0.57620	0.824	D	0.85835	0.1394	9	0.87932	D	0	.	15.3668	0.74529	0.0:1.0:0.0:0.0	.	339	P20702	ITAX_HUMAN	M	339	ENSP00000268296:T339M	ENSP00000268296:T339M	T	+	2	0	ITGAX	31280661	0.993000	0.37304	0.907000	0.35723	0.547000	0.35210	4.865000	0.62998	2.441000	0.82636	0.586000	0.80456	ACG		0.572	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		6	648	0	0	0	1	0	6	648				
KLF15	28999	broad.mit.edu	37	3	126070729	126070729	+	Missense_Mutation	SNP	G	G	A	rs552047494		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:126070729G>A	ENST00000296233.3	-	2	1267	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	346					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CTTCTCACCCGTGTGCCGGCG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		19251	0.0		0.001	False		,,,				2504	0.0					ENST00000296233.3																			0				endometrium(1)|lung(7)|ovary(2)|skin(2)	12						c.(1036-1038)aCg>aTg		Kruppel-like factor 15							63.0	67.0	65.0					3																	126070729		2203	4300	6503	SO:0001583	missense	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126070729G>A	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.1037C>T	3.37:g.126070729G>A	ENSP00000296233:p.Thr346Met						p.T346M	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	1267	-			346						Missense_Mutation	SNP	ENST00000296233.3	37	c.1037C>T	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439084	0.83885	.	.	ENSG00000163884	ENST00000296233	T	0.26373	1.74	5.37	5.37	0.77165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60520	-0.7247	10	0.72032	D	0.01	.	16.9708	0.86298	0.0:0.0:1.0:0.0	.	346	Q9UIH9	KLF15_HUMAN	M	346	ENSP00000296233:T346M	ENSP00000296233:T346M	T	-	2	0	KLF15	127553419	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	9.792000	0.99085	2.688000	0.91661	0.491000	0.48974	ACG		0.592	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		5	116	0	0	0	1	0	5	116				
APCDD1	147495	broad.mit.edu	37	18	10471951	10471951	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:10471951C>T	ENST00000355285.5	+	3	1021	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TCACCACAACCTCGACCACCT	0.572																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(667-669)Ctc>Ttc		adenomatosis polyposis coli down-regulated 1							110.0	103.0	105.0					18																	10471951		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10471951C>T	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.667C>T	18.37:g.10471951C>T	ENSP00000347433:p.Leu223Phe					APCDD1_ENST00000578882.1_Intron|APCDD1_ENST00000584596.1_3'UTR	p.L223F	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	1021	+			223						Missense_Mutation	SNP	ENST00000355285.5	37	c.667C>T	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	C	5.558	0.287867	0.10513	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.18174	2.23	5.3	1.14	0.20703	.	0.067248	0.64402	D	0.000011	T	0.15825	0.0381	M	0.69823	2.125	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.08743	-1.0707	10	0.14656	T	0.56	-22.2921	7.5727	0.27918	0.0:0.4399:0.0:0.5601	.	223	Q8J025	APCD1_HUMAN	F	223;274	ENSP00000347433:L223F	ENSP00000347433:L223F	L	+	1	0	APCDD1	10461951	1.000000	0.71417	0.931000	0.37212	0.062000	0.15995	1.147000	0.31602	0.329000	0.23460	0.655000	0.94253	CTC		0.572	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		123	568	0	0	0	1	0	123	568				
DMRT2	10655	broad.mit.edu	37	9	1056404	1056404	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:1056404C>G	ENST00000358146.2	+	3	817	c.817C>G	c.(817-819)Cgc>Ggc	p.R273G	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.R273G|DMRT2_ENST00000302441.6_Missense_Mutation_p.R273G			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	273					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TCTGCCCAACCGCATGGTGCC	0.473																																						ENST00000382251.3																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(817-819)Cgc>Ggc		doublesex and mab-3 related transcription factor 2							96.0	91.0	93.0					9																	1056404		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056404C>G	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.817C>G	9.37:g.1056404C>G	ENSP00000350865:p.Arg273Gly					DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.R273G|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.R273G	p.R273G			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	5	1146	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	273					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.817C>G	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	C	9.364	1.068695	0.20147	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.23552	1.9;1.9;1.9	5.53	4.63	0.57726	.	0.302422	0.37095	N	0.002246	T	0.30603	0.0770	L	0.31420	0.93	0.32914	D	0.514908	B;P	0.48016	0.001;0.904	B;P	0.53954	0.003;0.738	T	0.29731	-1.0002	10	0.21014	T	0.42	-7.1803	15.4265	0.75055	0.1402:0.8598:0.0:0.0	.	273;117	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	G	273	ENSP00000371686:R273G;ENSP00000305785:R273G;ENSP00000350865:R273G	ENSP00000305785:R273G	R	+	1	0	DMRT2	1046404	0.996000	0.38824	0.529000	0.27951	0.954000	0.61252	3.530000	0.53539	1.333000	0.45449	0.585000	0.79938	CGC		0.473	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		5	405	0	0	0	1	0	5	405				
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89395322C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395322C>T										Q9HBA9	FOH1B_HUMAN			0	720	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		5	182	0	0	0	1	0	5	182				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	202	0	0	0	1	0	7	202				
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1																			6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)																																																0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C														0	1111	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		8	367	0	0	0	1	0	8	367				
ATP10A	57194	broad.mit.edu	37	15	26026228	26026228	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:26026228C>T	ENST00000356865.6	-	2	703	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	198					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCAGGTTGGCGGTCTCGATG	0.602																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(592-594)Gcc>Acc		ATPase, class V, type 10A							86.0	86.0	86.0					15																	26026228		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:26026228C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.592G>A	15.37:g.26026228C>T	ENSP00000349325:p.Ala198Thr						p.A198T	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	2	703	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	198					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.592G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	35	5.527017	0.96431	.	.	ENSG00000206190	ENST00000356865	D	0.91996	-2.95	4.67	4.67	0.58626	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	M	0.88775	2.98	0.58432	D	0.999998	D	0.60160	0.987	P	0.62491	0.903	D	0.96807	0.9594	10	0.66056	D	0.02	-27.9289	16.7413	0.85460	0.0:1.0:0.0:0.0	.	198	O60312	AT10A_HUMAN	T	198	ENSP00000349325:A198T	ENSP00000349325:A198T	A	-	1	0	ATP10A	23577321	1.000000	0.71417	0.948000	0.38648	0.963000	0.63663	5.657000	0.67996	2.428000	0.82296	0.561000	0.74099	GCC		0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		43	343	0	0	0	1	0	43	343				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	133	0	0	0	1	0	6	133				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	205	0	0	0	1	0	7	205				
TP63	8626	broad.mit.edu	37	3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:189582120G>A	ENST00000264731.3	+	5	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	227					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTATCCGCGCCATGCCTGT	0.517										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(679-681)Gcc>Acc		tumor protein p63							123.0	120.0	121.0					3																	189582120		2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189582120G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.679G>A	3.37:g.189582120G>A	ENSP00000264731:p.Ala227Thr	HNSCC(45;0.13)				TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T	p.A227T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	5	768	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		227					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.679G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046830	0.93740	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.85	4.97	0.65823	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	M	0.75264	2.295	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.995;0.999;0.999;0.999;0.999;0.999;1.0;0.995;1.0;0.999	D	0.96749	0.9552	9	.	.	.	-13.4834	14.4917	0.67654	0.0715:0.0:0.9285:0.0	.	48;227;227;133;133;133;133;227;227;227	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	T	227;227;227;227;227;142;133;133;133;133;48;133	ENSP00000264731:A227T;ENSP00000407144:A227T;ENSP00000317510:A227T;ENSP00000376253:A227T;ENSP00000394337:A227T;ENSP00000371495:A142T;ENSP00000346614:A133T;ENSP00000392488:A133T;ENSP00000376256:A133T;ENSP00000376254:A133T;ENSP00000387839:A48T;ENSP00000389485:A133T	.	A	+	1	0	TP63	191064814	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.013000	0.88655	2.768000	0.95171	0.655000	0.94253	GCC		0.517	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		5	489	0	0	0	1	0	5	489				
GJC1	10052	broad.mit.edu	37	17	42882797	42882797	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:42882797G>A	ENST00000426548.1	-	3	658	c.389C>T	c.(388-390)aCg>aTg	p.T130M	GJC1_ENST00000590758.1_Missense_Mutation_p.T130M|GJC1_ENST00000330514.4_Missense_Mutation_p.T130M|GJC1_ENST00000592524.1_Missense_Mutation_p.T130M	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	130					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GTCCTCCTCCGTTTCTTCCAG	0.483																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(388-390)aCg>aTg		gap junction protein, gamma 1, 45kDa							154.0	141.0	146.0					17																	42882797		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882797G>A	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.389C>T	17.37:g.42882797G>A	ENSP00000411528:p.Thr130Met					GJC1_ENST00000330514.4_Missense_Mutation_p.T130M|GJC1_ENST00000592524.1_Missense_Mutation_p.T130M|GJC1_ENST00000590758.1_Missense_Mutation_p.T130M	p.T130M	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN			3	658	-		Prostate(33;0.0959)	130					B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.389C>T	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.883056	0.33255	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97976	-4.64;-4.64	5.27	5.27	0.74061	.	0.449024	0.23777	N	0.044678	D	0.96160	0.8748	L	0.29908	0.895	0.40774	D	0.983116	P	0.47484	0.896	P	0.47044	0.535	D	0.96891	0.9653	10	0.54805	T	0.06	.	17.8983	0.88896	0.0:0.0:1.0:0.0	.	130	P36383	CXG1_HUMAN	M	130	ENSP00000411528:T130M;ENSP00000333193:T130M	ENSP00000333193:T130M	T	-	2	0	GJC1	40238323	1.000000	0.71417	0.995000	0.50966	0.210000	0.24377	7.686000	0.84128	2.462000	0.83206	0.462000	0.41574	ACG		0.483	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		78	512	0	0	0	1	0	78	512				
MMP13	4322	broad.mit.edu	37	11	102822797	102822797	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:102822797C>T	ENST00000260302.3	-	5	771	c.743G>A	c.(742-744)gGc>gAc	p.G248D	MMP13_ENST00000340273.4_Missense_Mutation_p.G248D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	248					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G248D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GTGGCTTTTGCCGGTGTAGGT	0.448																																						ENST00000260302.3																			1	Substitution - Missense(1)	p.G248D(1)	kidney(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(742-744)gGc>gAc		matrix metallopeptidase 13 (collagenase 3)							248.0	239.0	242.0					11																	102822797		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822797C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.743G>A	11.37:g.102822797C>T	ENSP00000260302:p.Gly248Asp					MMP13_ENST00000340273.4_Missense_Mutation_p.G248D	p.G248D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	5	771	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	248					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.743G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	5.496	0.276438	0.10403	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.46819	0.86;0.86	5.59	4.68	0.58851	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.207964	0.52532	N	0.000079	T	0.16557	0.0398	N	0.01417	-0.88	0.44635	D	0.99761	B	0.02656	0.0	B	0.08055	0.003	T	0.20706	-1.0267	10	0.02654	T	1	.	10.717	0.46019	0.0:0.8549:0.0:0.1451	.	248	P45452	MMP13_HUMAN	D	248	ENSP00000260302:G248D;ENSP00000339672:G248D	ENSP00000260302:G248D	G	-	2	0	MMP13	102328007	0.817000	0.29147	1.000000	0.80357	0.983000	0.72400	1.516000	0.35856	1.479000	0.48272	0.655000	0.94253	GGC		0.448	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		9	955	0	0	0	1	0	9	955				
ADSS	159	broad.mit.edu	37	1	244574656	244574656	+	Silent	SNP	C	C	T	rs191651118		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:244574656C>T	ENST00000366535.3	-	12	1567	c.1251G>A	c.(1249-1251)gcG>gcA	p.A417A	RP11-518L10.5_ENST00000417765.1_RNA	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			GTTCTTTAAACGCCCTTGCAT	0.333													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18077	0.0		0.0	False		,,,				2504	0.0					ENST00000366535.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(1249-1251)gcG>gcA		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						168.0	162.0	164.0					1																	244574656		2203	4300	6503	SO:0001819	synonymous_variant	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244574656C>T	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1251G>A	1.37:g.244574656C>T							p.A417A	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		12	1567	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	417						Silent	SNP	ENST00000366535.3	37	c.1251G>A	CCDS1624.1																																																																																				0.333	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		65	335	0	0	0	1	0	65	335				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		16	181	0	0	0	1	0	16	181				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		8	190	0	0	0	1	0	8	190				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	283	1	0	8.12818e-05	1	8.3366e-05	5	283				
AQP7	364	broad.mit.edu	37	9	33385585	33385585	+	Missense_Mutation	SNP	C	C	A	rs373454335		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:33385585C>A	ENST00000541274.1	-	5	859	c.410G>T	c.(409-411)gGg>gTg	p.G137V	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CACCCCCCACCCCTCAACACA	0.602																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(409-411)gGg>gTg		aquaporin 7																																				SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385585C>A	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.410G>T	9.37:g.33385585C>A	ENSP00000438860:p.Gly137Val					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.G137V			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	859	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.410G>T		.	.	.	.	.	.	.	.	.	.	c	6.340	0.430890	0.12045	.	.	ENSG00000165269	ENST00000541274	T	0.58940	0.3	4.16	-1.14	0.09741	.	.	.	.	.	T	0.40145	0.1105	.	.	.	0.09310	N	1	B	0.34372	0.451	B	0.31686	0.134	T	0.32929	-0.9888	8	0.87932	D	0	.	3.9387	0.09316	0.0:0.3773:0.1846:0.4381	.	137	B7Z7F6	.	V	137	ENSP00000438860:G137V	ENSP00000438860:G137V	G	-	2	0	AQP7	33375585	0.004000	0.15560	0.024000	0.17045	0.041000	0.13682	0.014000	0.13333	-0.108000	0.12066	-0.270000	0.10280	GGG		0.602	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		5	179	1	0	5.9392e-07	1	6.21093e-07	5	179				
RAD17	5884	broad.mit.edu	37	5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A	rs200909538	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTCTAATAAATAAAAAGGTAA	0.338								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1597-1599)aaT>aaA	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							19.0	19.0	19.0					5																	68692367		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692367T>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1599T>A	5.37:g.68692367T>A	ENSP00000426191:p.Asn533Lys					RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K	p.N533K			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2277	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	533			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1599T>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328380	0.41197	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.24	1.46	0.22682	.	0.188302	0.56097	D	0.000039	T	0.25121	0.0610	M	0.64404	1.975	0.37592	D	0.920216	P;P;B	0.43973	0.587;0.823;0.348	B;P;B	0.46320	0.287;0.512;0.191	T	0.19224	-1.0312	10	0.16420	T	0.52	0.2205	5.2212	0.15370	0.0:0.24:0.1489:0.6111	.	533;436;522	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	522;533;522;357;522;522;522;436;357;533;141	ENSP00000355226:N522K;ENSP00000426191:N533K;ENSP00000346938:N522K;ENSP00000427743:N357K;ENSP00000346271:N522K;ENSP00000311227:N522K;ENSP00000303134:N522K;ENSP00000282891:N436K;ENSP00000350725:N357K;ENSP00000370151:N533K;ENSP00000425005:N141K	ENSP00000282891:N436K	N	+	3	2	RAD17	68728123	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.030000	0.30153	0.071000	0.16664	0.455000	0.32223	AAT		0.338	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		12	58	0	0	0	1	0	12	58				
NRXN2	9379	broad.mit.edu	37	11	64375284	64375284	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:64375284G>A	ENST00000377551.1	-	22	4734	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M	NRXN2_ENST00000377559.3_Missense_Mutation_p.T1438M|NRXN2_ENST00000265459.6_Missense_Mutation_p.T1508M|NRXN2_ENST00000301894.2_Missense_Mutation_p.T462M|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1501M			Q9P2S2	NRX2A_HUMAN	neurexin 2	1508					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTCGTCGTCCGTGGGGGGGAG	0.687																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(4522-4524)aCg>aTg		neurexin 2							38.0	33.0	35.0					11																	64375284		2189	4292	6481	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64375284G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.4523C>T	11.37:g.64375284G>A	ENSP00000366774:p.Thr1508Met					NRXN2_ENST00000377559.3_Missense_Mutation_p.T1438M|NRXN2_ENST00000377551.1_Missense_Mutation_p.T1508M|NRXN2_ENST00000301894.2_Missense_Mutation_p.T462M|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1501M	p.T1508M	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			23	4984	-			1508					A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.4523C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350585	0.61183	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.65549	0.35;-0.15;-0.16;-0.15;-0.04	3.9	3.9	0.45041	.	.	.	.	.	T	0.66790	0.2825	N	0.24115	0.695	0.50313	D	0.99986	D;D;D;D	0.89917	0.999;0.979;0.989;1.0	P;P;P;D	0.87578	0.83;0.582;0.63;0.998	T	0.71500	-0.4574	9	0.72032	D	0.01	.	13.7387	0.62833	0.0:0.0:1.0:0.0	.	1438;1508;1254;462	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	M	462;1508;1438;1508;1438;1501	ENSP00000301894:T462M;ENSP00000366774:T1508M;ENSP00000366782:T1438M;ENSP00000265459:T1508M;ENSP00000386416:T1501M	ENSP00000265459:T1508M	T	-	2	0	NRXN2	64131860	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.307000	0.65762	1.899000	0.54978	0.313000	0.20887	ACG		0.687	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		6	47	0	0	0	1	0	6	47				
SMAD4	4089	broad.mit.edu	37	18	48581229	48581229	+	Nonsense_Mutation	SNP	C	C	A	rs377767331		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:48581229C>A	ENST00000342988.3	+	5	1071	c.533C>A	c.(532-534)tCa>tAa	p.S178*	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S178*|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S178*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	178					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAAGGACATTCAATTCAAACC	0.438																																						ENST00000342988.3																			39	Whole gene deletion(36)|Unknown(3)	p.0?(36)|p.?(3)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM994756	SMAD4	M		c.(532-534)tCa>tAa		SMAD family member 4							196.0	138.0	157.0					18																	48581229		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48581229C>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.533C>A	18.37:g.48581229C>A	ENSP00000341551:p.Ser178*					RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S178*|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S178*	p.S178*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	5	1071	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	178					A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.533C>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42	9.219139	0.99105	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	.	0.282373	0.35378	N	0.003258	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	19.3335	0.94306	0.0:1.0:0.0:0.0	.	.	.	.	X	178	.	ENSP00000341551:S178X	S	+	2	0	SMAD4	46835227	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.952000	0.56691	2.937000	0.99478	0.650000	0.86243	TCA		0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		67	331	1	0	8.83742e-36	1	1.00283e-35	67	331				
KDM6A	7403	broad.mit.edu	37	X	44833922	44833922	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:44833922T>C	ENST00000377967.4	+	4	387	c.346T>C	c.(346-348)Tac>Cac	p.Y116H	KDM6A_ENST00000536777.1_Missense_Mutation_p.Y116H|KDM6A_ENST00000382899.4_Missense_Mutation_p.Y116H|KDM6A_ENST00000543216.1_Missense_Mutation_p.Y116H	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	116	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(14)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTATCTGCATACCAGAGGTA	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		21	No detectable mRNA/protein(14)|Whole gene deletion(6)|Unknown(1)	p.0(14)|p.0?(6)|p.?(1)	haematopoietic_and_lymphoid_tissue(13)|oesophagus(4)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(346-348)Tac>Cac		lysine (K)-specific demethylase 6A							206.0	164.0	178.0					X																	44833922		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44833922T>C	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.346T>C	X.37:g.44833922T>C	ENSP00000367203:p.Tyr116His					KDM6A_ENST00000543216.1_Missense_Mutation_p.Y116H|KDM6A_ENST00000382899.4_Missense_Mutation_p.Y116H|KDM6A_ENST00000536777.1_Missense_Mutation_p.Y116H	p.Y116H	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			4	387	+			116					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.346T>C	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597277	0.66332	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	T;T;T;T	0.76709	2.23;2.23;-1.04;2.23	4.75	4.75	0.60458	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.116882	0.64402	D	0.000012	D	0.87402	0.6168	M	0.82823	2.61	0.51233	D	0.999919	D;D;D;D;D	0.76494	0.997;0.998;0.999;0.995;0.997	D;D;D;D;D	0.79784	0.991;0.983;0.993;0.969;0.961	D	0.88806	0.3288	10	0.87932	D	0	-7.0249	10.9422	0.47281	0.0:0.0:0.0:1.0	.	116;116;116;116;116	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	H	116	ENSP00000367203:Y116H;ENSP00000437405:Y116H;ENSP00000372355:Y116H;ENSP00000443078:Y116H	ENSP00000367203:Y116H	Y	+	1	0	KDM6A	44718866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.968000	0.70413	1.853000	0.53794	0.441000	0.28932	TAC		0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		4	230	0	0	0	1	0	4	230				
TENM4	26011	broad.mit.edu	37	11	78423616	78423616	+	Missense_Mutation	SNP	G	G	A	rs200340921		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:78423616G>A	ENST00000278550.7	-	26	4427	c.3965C>T	c.(3964-3966)gCg>gTg	p.A1322V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1322					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										ACCTGTCCCCGCAACCACCTC	0.577													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15702	0.0		0.0	False		,,,				2504	0.0					ENST00000278550.7																			0											c.(3964-3966)gCg>gTg		teneurin transmembrane protein 4							130.0	134.0	133.0					11																	78423616		1980	4155	6135	SO:0001583	missense	26011							g.chr11:78423616G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3965C>T	11.37:g.78423616G>A	ENSP00000278550:p.Ala1322Val						p.A1322V	NM_001098816.2	NP_001092286.2					26	4427	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3965C>T	CCDS44688.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.15	3.560276	0.65538	.	.	ENSG00000149256	ENST00000278550	D	0.89123	-2.47	5.19	5.19	0.71726	.	0.112703	0.64402	D	0.000013	D	0.86510	0.5950	M	0.74467	2.265	0.80722	D	1	P	0.39737	0.685	B	0.21708	0.036	D	0.86913	0.2062	9	.	.	.	.	18.8947	0.92419	0.0:0.0:1.0:0.0	.	1322	Q6N022	TEN4_HUMAN	V	1322	ENSP00000278550:A1322V	.	A	-	2	0	ODZ4	78101264	1.000000	0.71417	0.764000	0.31436	0.976000	0.68499	9.657000	0.98554	2.710000	0.92621	0.655000	0.94253	GCG		0.577	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			7	670	0	0	0	1	0	7	670				
FLNB	2317	broad.mit.edu	37	3	58120468	58120468	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:58120468C>T	ENST00000295956.4	+	27	4805	c.4640C>T	c.(4639-4641)gCc>gTc	p.A1547V	FLNB_ENST00000493452.1_Missense_Mutation_p.A1378V|FLNB_ENST00000358537.3_Missense_Mutation_p.A1547V|FLNB_ENST00000429972.2_Missense_Mutation_p.A1547V|FLNB_ENST00000357272.4_Missense_Mutation_p.A1547V|FLNB_ENST00000490882.1_Missense_Mutation_p.A1578V|FLNB_ENST00000419752.2_Missense_Mutation_p.A1378V|FLNB_ENST00000348383.5_Missense_Mutation_p.A1547V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1547					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCCGAGATGCCGGGGAAGGC	0.483																																						ENST00000357272.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120	GRCh37	CM061773	FLNB	M		c.(4639-4641)gCc>gTc		filamin B, beta							158.0	156.0	156.0					3																	58120468		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58120468C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4640C>T	3.37:g.58120468C>T	ENSP00000295956:p.Ala1547Val					FLNB_ENST00000348383.5_Missense_Mutation_p.A1547V|FLNB_ENST00000295956.4_Missense_Mutation_p.A1547V|FLNB_ENST00000419752.2_Missense_Mutation_p.A1378V|FLNB_ENST00000493452.1_Missense_Mutation_p.A1378V|FLNB_ENST00000490882.1_Missense_Mutation_p.A1578V|FLNB_ENST00000429972.2_Missense_Mutation_p.A1547V|FLNB_ENST00000358537.3_Missense_Mutation_p.A1547V	p.A1547V			O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	27	4805	+			1547					B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.4640C>T	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522694	0.96431	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.68	5.68	0.88126	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	M	0.90595	3.13	0.80722	D	1	P;D;P;D;P;P	0.71674	0.832;0.998;0.879;0.977;0.917;0.917	P;D;P;P;P;P	0.77557	0.55;0.99;0.67;0.809;0.863;0.863	D	0.95415	0.8502	10	0.87932	D	0	.	19.7958	0.96481	0.0:1.0:0.0:0.0	.	1547;1578;1378;1378;1547;1547	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	V	1547;1578;1547;1547;1547;1547;1378;1378	ENSP00000295956:A1547V;ENSP00000420213:A1578V;ENSP00000351339:A1547V;ENSP00000415599:A1547V;ENSP00000232447:A1547V;ENSP00000349819:A1547V;ENSP00000418510:A1378V;ENSP00000414532:A1378V	ENSP00000295956:A1547V	A	+	2	0	FLNB	58095508	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	7.764000	0.85297	2.669000	0.90835	0.563000	0.77884	GCC		0.483	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		6	701	0	0	0	1	0	6	701				
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs200267032		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e2+1																																						SO:0001630	splice_region_variant	0							g.chr20:29614328G>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.-61+1G>A	20.37:g.29614328G>A						FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site								2	320	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37																																																																																						0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	4	118	0	0	0	1	0	4	118				
OR8B12	219858	broad.mit.edu	37	11	124412927	124412927	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:124412927C>A	ENST00000306842.2	-	1	648	c.624G>T	c.(622-624)atG>atT	p.M208I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGACAATGGGCATTCCAACGT	0.453																																						ENST00000306842.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(622-624)atG>atT		olfactory receptor, family 8, subfamily B, member 12							97.0	77.0	84.0					11																	124412927		2201	4299	6500	SO:0001583	missense	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124412927C>A		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.624G>T	11.37:g.124412927C>A	ENSP00000307159:p.Met208Ile						p.M208I	NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	648	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	208					B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	c.624G>T	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	C	0.960	-0.703660	0.03255	.	.	ENSG00000170953	ENST00000306842	T	0.30981	1.51	3.89	-0.137	0.13469	GPCR, rhodopsin-like superfamily (1);	1.388370	0.04278	N	0.343265	T	0.09247	0.0228	N	0.00436	-1.5	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.17198	-1.0377	10	0.39692	T	0.17	.	4.7775	0.13187	0.0:0.4882:0.1521:0.3598	.	208	Q8NGG6	OR8BC_HUMAN	I	208	ENSP00000307159:M208I	ENSP00000307159:M208I	M	-	3	0	OR8B12	123918137	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-2.035000	0.01423	-0.013000	0.14199	-0.145000	0.13849	ATG		0.453	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			24	147	1	0	2.89027e-11	1	3.16742e-11	24	147				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	205	0	0	0	1	0	6	205				
LINC00969	440993	broad.mit.edu	37	3	195391115	195391115	+	lincRNA	SNP	T	T	C	rs28401477	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:195391115T>C	ENST00000445430.1	+	0	641									long intergenic non-protein coding RNA 969																		ACACCTTATATGGGAGGGTAA	0.597													.|||	4	0.000798722	0.003	0.0	5008	,	,		20461	0.0		0.0	False		,,,				2504	0.0					ENST00000445430.1																			0																																																			0							g.chr3:195391115T>C	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195391115T>C														0	641	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	159	0	0	0	1	0	6	159				
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		9	353						9	353	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs					PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	p.P344fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		8	966						8	966	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37307495	37307495	+	Missense_Mutation	SNP	C	C	T	rs377447344		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:37307495C>T	ENST00000373091.3	-	10	1388	c.1372G>A	c.(1372-1374)Ggg>Agg	p.G458R	GRIK3_ENST00000373093.4_Missense_Mutation_p.G458R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	458					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGGTCATTCCCGTATAGCGTC	0.572																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1372-1374)Ggg>Agg		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)	C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	186.0	172.0	177.0		1372	4.9	0.9	1		177	0,8600		0,0,4300	no	missense	GRIK3	NM_000831.3	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	458/920	37307495	1,13005	2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37307495C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1372G>A	1.37:g.37307495C>T	ENSP00000362183:p.Gly458Arg					GRIK3_ENST00000373093.4_Missense_Mutation_p.G458R	p.G458R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			10	1388	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	458					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1372G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779833	0.70222	2.27E-4	0.0	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.80123	-1.34;-1.34	4.95	4.95	0.65309	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95656	0.8711	10	0.87932	D	0	.	18.5686	0.91126	0.0:1.0:0.0:0.0	.	458;458	A9Z1Z8;Q13003	.;GRIK3_HUMAN	R	458	ENSP00000362183:G458R;ENSP00000362185:G458R	ENSP00000362183:G458R	G	-	1	0	GRIK3	37080082	1.000000	0.71417	0.904000	0.35570	0.167000	0.22549	5.959000	0.70339	2.446000	0.82766	0.655000	0.94253	GGG		0.572	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		80	603	0	0	0	1	0	80	603				
RSPO1	284654	broad.mit.edu	37	1	38078467	38078469	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:38078467_38078469delTGC	ENST00000401069.1	-	7	1462_1464	c.750_752delGCA	c.(748-753)cagcaa>caa	p.250_251QQ>Q	RSPO1_ENST00000373059.1_In_Frame_Del_p.223_224QQ>Q|RSPO1_ENST00000401070.1_In_Frame_Del_p.187_188QQ>Q|RSPO1_ENST00000401068.1_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000356545.2_In_Frame_Del_p.250_251QQ>Q|RSPO1_ENST00000401071.2_In_Frame_Del_p.187_188QQ>Q	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	250					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACTGTCCCTTGCTGCTGCTGCT	0.621																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(748-753)caa>ca		R-spondin 1			,,,	31,74,4091		12,0,7,2,70,2007					,,,	2.3	1.0			96	37,0,8137		16,0,5,0,0,4066	no	codingComplex,codingComplex,codingComplex,codingComplex	RSPO1	NM_001242910.1,NM_001242909.1,NM_001242908.1,NM_001038633.3	,,,	28,0,12,2,70,6073	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4527,2.5024,1.1479	,,,	,,,		68,74,12228				SO:0001651	inframe_deletion	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38078467_38078469delTGC	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.750_752delGCA	1.37:g.38078476_38078478delTGC	ENSP00000383847:p.Gln251del					RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del	p.QQ250del	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			8	1537_1539	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	250					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	In_Frame_Del	DEL	ENST00000401069.1	37	c.750_752delGCA	CCDS41304.1																																																																																				0.621	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		13	791						13	791	---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114968116	114968118	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:114968116_114968118delTGT	ENST00000358465.2	-	9	1731_1733	c.1648_1650delACA	c.(1648-1650)acadel	p.T550del	TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	550	Poly-Thr.				gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGCTGTTGTGTTGTTGTTGTT	0.429			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1648-1650)del		tripartite motif containing 33																																				SO:0001651	inframe_deletion	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968116_114968118delTGT	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1648_1650delACA	1.37:g.114968125_114968127delTGT	ENSP00000351250:p.Thr550del					TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del	p.T550del	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1731_1733	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	550			Poly-Thr.		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	In_Frame_Del	DEL	ENST00000358465.2	37	c.1648_1650delACA	CCDS872.1																																																																																				0.429	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		11	1284						11	1284	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		12	404						12	404	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-	rs543977738		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2872-2874)del		importin 9				1,4265		0,1,2132						-9.5	0.1			127	2,8252		0,2,4125	no	coding	IPO9	NM_018085.4		0,3,6257	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001651	inframe_deletion	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843998_201844000delGAG	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2872_2874delGAG	1.37:g.201844007_201844009delGAG	ENSP00000354742:p.Glu962del						p.E962del	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2941_2943	+			962					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	In_Frame_Del	DEL	ENST00000361565.4	37	c.2872_2874delGAG	CCDS1415.1																																																																																				0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		9	459						9	459	---	---	---	---
INTS7	25896	broad.mit.edu	37	1	212115191	212115193	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:212115191_212115193delTGC	ENST00000366994.3	-	20	2966_2968	c.2862_2864delGCA	c.(2860-2865)cagcaa>caa	p.954_955QQ>Q	INTS7_ENST00000366993.3_In_Frame_Del_p.940_941QQ>Q|INTS7_ENST00000366992.3_In_Frame_Del_p.934_935QQ>Q|INTS7_ENST00000440600.2_In_Frame_Del_p.905_906QQ>Q|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	954	Gln-rich.				cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGCATTGCGTTGCTGCTGCTGCT	0.443																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(2860-2865)caa>ca		integrator complex subunit 7																																				SO:0001651	inframe_deletion	25896				snRNA processing	integrator complex	protein binding	g.chr1:212115191_212115193delTGC	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2862_2864delGCA	1.37:g.212115200_212115202delTGC	ENSP00000355961:p.Gln955del					INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del	p.QQ954del	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	20	2966_2968	-			954			Gln-rich.		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	In_Frame_Del	DEL	ENST00000366994.3	37	c.2862_2864delGCA	CCDS1501.1																																																																																				0.443	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		8	779						8	779	---	---	---	---
AGBL5	60509	broad.mit.edu	37	2	27278900	27278901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:27278900_27278901insC	ENST00000360131.4	+	7	1418_1419	c.1259_1260insC	c.(1258-1263)atccccfs	p.IP420fs	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Frame_Shift_Ins_p.IP420fs	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	420					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGATACCATCCCCCCCAAAG	0.515																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(1258-1260)accfs		ATP/GTP binding protein-like 5																																				SO:0001589	frameshift_variant	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27278900_27278901insC	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1266dupC	2.37:g.27278907_27278907dupC	ENSP00000353249:p.Ile420fs					AGBL5_ENST00000323064.8_Frame_Shift_Ins_p.T420fs	p.T420fs	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN			7	1418_1419	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		420					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Frame_Shift_Ins	INS	ENST00000360131.4	37	c.1259_1260insC	CCDS1732.3																																																																																				0.515	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		7	1300						7	1300	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91887905	91887906	+	RNA	INS	-	-	T	rs374250838|rs369805878|rs199562278	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:91887905_91887906insT	ENST00000436174.1	-	0	540																											GCTATTTTCCATTTTTTTTTTT	0.292														393	0.0784744	0.1354	0.0533	5008	,	,		61150	0.0546		0.0567	False		,,,				2504	0.0665					ENST00000436174.1																			0																																																			0							g.chr2:91887905_91887906insT																													2.37:g.91887916_91887916dupT														0	540	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			11	156						11	156	---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95539829	95539830	+	Frame_Shift_Ins	INS	-	-	G	rs149873671		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:95539829_95539830insG	ENST00000295201.4	+	3	826_827	c.689_690insG	c.(688-693)ccgtacfs	p.Y231fs	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	231					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGGCTCATCCGTACTCCACCA	0.663																																						ENST00000295201.4																			1	Substitution - coding silent(1)	p.P230P(1)	lung(1)	NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(688-690)ctafs		tektin 4																																				SO:0001589	frameshift_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95539829_95539830insG	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.690dupG	2.37:g.95539830_95539830dupG	ENSP00000295201:p.Tyr231fs					AC097374.2_ENST00000568768.1_RNA	p.L230fs	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			3	826_827	+			230						Frame_Shift_Ins	INS	ENST00000295201.4	37	c.689_690insG	CCDS2005.1																																																																																				0.663	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		8	419						8	419	---	---	---	---
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-	rs199680376		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atcctc>atc	p.L20del	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	20					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631																																						ENST00000192314.6																			1	Substitution - Missense(1)	p.L16I(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14						c.(43-48)atc>a		galactose-3-O-sulfotransferase 2																																				SO:0001651	inframe_deletion	64090				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	g.chr2:242738494_242738496delTCC	AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.44_46delTCC	2.37:g.242738503_242738505delTCC	ENSP00000192314:p.Leu20del						p.IL15del	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	2	175_177	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	15					Q17RK0|Q57Z52	In_Frame_Del	DEL	ENST00000192314.6	37	c.44_46delTCC	CCDS33427.1																																																																																				0.631	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322792.1	NM_022134		8	404						8	404	---	---	---	---
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tcctct>tct	p.55_56SS>S	TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000435218.2_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000431022.2_In_Frame_Del_p.71_72SS>S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	55	Ser-rich.			S -> F (in Ref. 1; BAA91967). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(163-168)tct>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790198_12790200delGAG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.165_167delCTC	3.37:g.12790207_12790209delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	521_523	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.165_167delCTC	CCDS2613.1																																																																																				0.419	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		7	701						7	701	---	---	---	---
RHOA	387	broad.mit.edu	37	3	49395674	49395676	+	IGR	DEL	GCC	GCC	-	rs71077799|rs56041243|rs139760138|rs17838762	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:49395674_49395676delGCC	ENST00000418115.1	-	0	2031				GPX1_ENST00000419783.1_In_Frame_Del_p.12_13AA>A|GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_In_Frame_Del_p.12_13AA>A	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.A12_A13delAA(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CACCGACTGGgccgccgccgccg	0.69														3825	0.763778	0.5257	0.7406	5008	,	,		9124	0.9742		0.7386	False		,,,				2504	0.911					ENST00000419783.1																			1	Deletion - In frame(1)	p.A12_A13delAA(1)	breast(1)	breast(1)|large_intestine(2)|lung(1)	4						c.(34-39)gcc>gc		glutathione peroxidase 1	Glutathione(DB00143)																																			SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395674_49395676delGCC	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395683_49395685delGCC						GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_In_Frame_Del_p.AA12del	p.AA12del	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	357_359	-			12					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	In_Frame_Del	DEL	ENST00000418115.1	37	c.36_38delGGC	CCDS2795.1																																																																																				0.690	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		4	8						4	8	---	---	---	---
CACNA2D2	9254	broad.mit.edu	37	3	50418559	50418560	+	Splice_Site	INS	-	-	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:50418559_50418560insG	ENST00000479441.1	-	7	652		c.e7-2		CACNA2D2_ENST00000424201.2_Splice_Site|CACNA2D2_ENST00000435965.1_Splice_Site|CACNA2D2_ENST00000266039.3_Splice_Site|CACNA2D2_ENST00000360963.3_Splice_Site|CACNA2D2_ENST00000429770.1_Splice_Site|CACNA2D2_ENST00000395083.1_Splice_Site|CACNA2D2_ENST00000423994.2_Splice_Site			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2						energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGACAGTGGCTGGGGGGAAGCG	0.599																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.e7-2		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)		,,	0,4266		0,0,2133					,,	4.6	1.0			104	1,8253		0,1,4126	no	splice-3,splice-3,splice-3	CACNA2D2	NM_006030.2,NM_001174051.1,NM_001005505.1	,,	0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080	,,	,,		1,12519				SO:0001630	splice_region_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50418559_50418560insG	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.653-2->C	3.37:g.50418565_50418565dupG						CACNA2D2_ENST00000479441.1_Splice_Site|CACNA2D2_ENST00000424201.2_Splice_Site|CACNA2D2_ENST00000395083.1_Splice_Site|CACNA2D2_ENST00000360963.3_Splice_Site|CACNA2D2_ENST00000423994.2_Splice_Site|CACNA2D2_ENST00000429770.1_Splice_Site|CACNA2D2_ENST00000266039.3_Splice_Site				Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	7	826	-								A7MD15|Q9NY48|Q9UEW0|Q9Y268	Splice_Site	INS	ENST00000479441.1	37		CCDS54588.1																																																																																				0.599	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030	Intron	8	734						8	734	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		7	521						7	521	---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:99568273delT	ENST00000354552.3	-	5	2717	c.2247delA	c.(2245-2247)aaafs	p.K749fs	FILIP1L_ENST00000383694.2_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000471562.1_Frame_Shift_Del_p.K509fs|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Frame_Shift_Del_p.K325fs|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Frame_Shift_Del_p.K749fs	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	749						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GTTGATTTAGTTTTTTTTGCA	0.403																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(2245-2247)aafs		filamin A interacting protein 1-like							166.0	147.0	153.0					3																	99568273		1847	4097	5944	SO:0001589	frameshift_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99568273delT		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2247delA	3.37:g.99568273delT	ENSP00000346560:p.Lys749fs					FILIP1L_ENST00000383694.2_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000487087.1_Frame_Shift_Del_p.K325fs|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000354552.3_Frame_Shift_Del_p.K749fs|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron	p.K749fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	2717	-			749					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Frame_Shift_Del	DEL	ENST00000354552.3	37	c.2247delA	CCDS43117.1																																																																																				0.403	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		7	594						7	594	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			8	1009						8	1009	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1708-1710)del		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129370576_129370578delCTG	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1708_1710delCAG	3.37:g.129370585_129370587delCTG	ENSP00000376930:p.Gln570del					TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	p.Q570del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2048_2050	-			570					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.1708_1710delCAG	CCDS33855.1																																																																																				0.581	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		14	495						14	495	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193130095	193130096	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:193130095_193130096insT	ENST00000342695.4	-	27	3401_3402	c.3079_3080insA	c.(3079-3081)atgfs	p.M1027fs	ATP13A4_ENST00000400270.2_Frame_Shift_Ins_p.M43fs|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Frame_Shift_Ins_p.M1008fs	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1027						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATTACTTTCCATTTTTTCTGGA	0.391																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(3079-3081)ggafs		ATPase type 13A4																																				SO:0001589	frameshift_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193130095_193130096insT	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3080dupA	3.37:g.193130101_193130101dupT	ENSP00000339182:p.Met1027fs					ATP13A4_ENST00000392443.3_Frame_Shift_Ins_p.G1008fs|ATP13A4_ENST00000400270.2_Frame_Shift_Ins_p.G43fs|ATP13A4_ENST00000482964.1_5'UTR	p.G1027fs	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	27	3401_3402	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1027					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Frame_Shift_Ins	INS	ENST00000342695.4	37	c.3079_3080insA	CCDS3304.2																																																																																				0.391	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		70	1083						70	1083	---	---	---	---
TMEM175	84286	broad.mit.edu	37	4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tgtfs	p.C144fs	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(430-432)tfs		transmembrane protein 175																																				SO:0001589	frameshift_variant	84286					integral to membrane		g.chr4:946206_946207delTG	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.430_431delTG	4.37:g.946216_946217delTG	ENSP00000264771:p.Cys144fs					TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	p.C144fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		7	615_616	+			144					D3DVN4|Q8ND13	Frame_Shift_Del	DEL	ENST00000264771.4	37	c.430_431delTG	CCDS3341.1																																																																																				0.515	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		8	869						8	869	---	---	---	---
RPL9	6133	broad.mit.edu	37	4	39462464	39462464	+	5'Flank	DEL	A	A	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:39462464delA	ENST00000449470.2	-	0	0				LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|RPL9_ENST00000295955.9_5'Flank|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000261434.3_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K36fs*31(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CTTGCCAGATAAAAAAAAGGA	0.393																																						ENST00000261434.3																			1	Deletion - Frameshift(1)	p.K36fs*31(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(100-102)aafs		lipoic acid synthetase	Lipoic Acid(DB00166)						107.0	120.0	115.0					4																	39462464		2203	4300	6503	SO:0001631	upstream_gene_variant	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39462464delA	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462464delA	Exception_encountered					LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs	p.K36fs	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN			2	218	+			36						Frame_Shift_Del	DEL	ENST00000449470.2	37	c.100delA	CCDS3452.1																																																																																				0.393	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			11	839						11	839	---	---	---	---
UGDH	7358	broad.mit.edu	37	4	39515752	39515753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:39515752_39515753insA	ENST00000316423.6	-	3	556_557	c.214_215insT	c.(214-216)tctfs	p.S72fs	UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.S72fs|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.S72fs|UGDH_ENST00000515398.1_5'UTR	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	72					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.S72fs*18(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						AATATTGGTAGAAAAAAAAAGA	0.297																																						ENST00000316423.6																			1	Deletion - Frameshift(1)	p.S72fs*18(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(214-216)tacfs		UDP-glucose 6-dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39515752_39515753insA	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.215dupT	4.37:g.39515761_39515761dupA	ENSP00000319501:p.Ser72fs					UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000515398.1_5'UTR	p.Y72fs	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			3	556_557	-			72					B3KUU2|B4DN25|O60589	Frame_Shift_Ins	INS	ENST00000316423.6	37	c.214_215insT	CCDS3455.1																																																																																				0.297	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		17	722						17	722	---	---	---	---
OCIAD2	132299	broad.mit.edu	37	4	48894833	48894833	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:48894833delA	ENST00000508632.1	-	6	571	c.339delT	c.(337-339)tttfs	p.F113fs	OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Intron	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	113	OCIA.					endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						GCTGATCTTCAAAAAAATGGA	0.393																																						ENST00000508632.1																			0				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						c.(337-339)ttfs		OCIA domain containing 2							144.0	150.0	148.0					4																	48894833		2203	4300	6503	SO:0001589	frameshift_variant	132299					endosome		g.chr4:48894833delA	BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.339delT	4.37:g.48894833delA	ENSP00000423014:p.Phe113fs					OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Intron	p.F113fs	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN			6	571	-			113			OCIA.		B4DPE7|Q8N544	Frame_Shift_Del	DEL	ENST00000508632.1	37	c.339delT	CCDS33981.1																																																																																				0.393	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361984.5	NM_152398		7	1297						7	1297	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0.0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			9	300						9	300	---	---	---	---
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-	rs368167746		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)ccadel	p.P333del	NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(982-984)del		nephronectin																																				SO:0001651	inframe_deletion	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863682_106863684delCCA		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.982_984delCCA	4.37:g.106863691_106863693delCCA	ENSP00000369323:p.Pro333del					NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del	p.P333del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1198_1200	+		Hepatocellular(203;0.217)	333			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	c.982_984delCCA	CCDS34046.1																																																																																				0.522	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		7	355						7	355	---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188924331	188924331	+	Frame_Shift_Del	DEL	A	A	-	rs141008020		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr4:188924331delA	ENST00000326866.4	+	4	778	c.370delA	c.(370-372)aaafs	p.K125fs	ZFP42_ENST00000509524.1_Frame_Shift_Del_p.K125fs	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	125					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GGAATACATGAAAAAAGGGGT	0.403																																						ENST00000326866.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(370-372)aafs		ZFP42 zinc finger protein							86.0	94.0	91.0					4																	188924331		2203	4300	6503	SO:0001589	frameshift_variant	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924331delA	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.370delA	4.37:g.188924331delA	ENSP00000317686:p.Lys125fs					ZFP42_ENST00000509524.1_Frame_Shift_Del_p.K125fs	p.K125fs	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	778	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	125					D3DP65|Q8WXE2	Frame_Shift_Del	DEL	ENST00000326866.4	37	c.370delA	CCDS3849.1																																																																																				0.403	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		7	797						7	797	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1576-1578)tcfs		cadherin 10, type 2 (T2-cadherin)							170.0	183.0	179.0					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.F526fs	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2084	-			526			Cadherin 5.		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		9	1183						9	1183	---	---	---	---
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			12	1125						12	1125	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(868-870)del		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_ENST00000504926.1_Intron	p.E290del	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	1303_1305	-		all_cancers(142;0.186)|Prostate(80;0.081)	290					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		7	1154						7	1154	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137801633	137801635	+	In_Frame_Del	DEL	CAG	CAG	-	rs555024246|rs140268489		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:137801633_137801635delCAG	ENST00000239938.4	+	1	455_457	c.183_185delCAG	c.(181-186)aacagc>aac	p.S67del		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	67	Gly/Ser-rich.				BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			gcggcagcaacagcagcagcagc	0.7																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(181-186)aac>aa		early growth response 1																																				SO:0001651	inframe_deletion	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137801633_137801635delCAG	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.183_185delCAG	5.37:g.137801642_137801644delCAG	ENSP00000239938:p.Ser67del						p.NS61del	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		1	455_457	+			61			Gly/Ser-rich.			In_Frame_Del	DEL	ENST00000239938.4	37	c.183_185delCAG	CCDS4206.1																																																																																				0.700	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		8	252						8	252	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:139905676delA	ENST00000360839.2	+	26	4742	c.4588delA	c.(4588-4590)aaafs	p.K1531fs	ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000544120.1_5'Flank|SNORD45_ENST00000363181.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1531						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4588-4590)aafs		ankyrin repeat and KH domain containing 1							133.0	145.0	141.0					5																	139905676		2203	4300	6503	SO:0001589	frameshift_variant	54882							g.chr5:139905676delA	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4588delA	5.37:g.139905676delA	ENSP00000354085:p.Lys1531fs					ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs	p.K1531fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4712	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.4588delA	CCDS4225.1																																																																																				0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		9	1064						9	1064	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(454-459)agc>a		T-cell immunoglobulin and mucin domain containing 4																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del	p.TS152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	511_513	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		11	1424						11	1424	---	---	---	---
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	CCT	-	rs546542545		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:26384091_26384093delCCT	ENST00000356709.4	+	2	153_155	c.42_44delCCT	c.(40-45)tccctc>tcc	p.L24del	BTN2A2_ENST00000432533.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.L24del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.L24del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.L24del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	24					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(40-45)tcc>tc		butyrophilin, subfamily 2, member A2																																				SO:0001651	inframe_deletion	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26384091_26384093delCCT	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.42_44delCCT	6.37:g.26384100_26384102delCCT	ENSP00000349143:p.Leu24del					BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del	p.SL14del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			2	153_155	+			14					A6NM84|B4DE97|B4DQ01|E9PH07|O00480	In_Frame_Del	DEL	ENST00000356709.4	37	c.42_44delCCT	CCDS4606.1																																																																																				0.581	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			7	443						7	443	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGCCAGCCTCCCTCCTCCTCCTC	0.586																																						ENST00000466808.2																			0																	383,304,2,3575		10,8,0,355,12,0,272,0,2,1473						0.4	0.0		dbSNP_134	150	684,576,1,6991		22,7,0,633,28,0,513,0,1,2922	no	intergenic				32,15,0,988,40,0,785,0,3,4395	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		15.2811,16.1585,15.5801				1067,880,3,10566						0							g.chr6:26422388_26422390delCCT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422397_26422399delCCT														0	42_44	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.586	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		19	626						19	626	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-	rs200721788|rs146992654|rs372287572|rs577687250	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	175					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495														7	0.00139776	0.0045	0.0	5008	,	,		21251	0.0		0.0	False		,,,				2504	0.001				NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(523-525)cfs		MAS1 oncogene-like				52,4210		1,50,2080						-4.7	0.0		dbSNP_134	66	110,8144		1,108,4018	yes	frameshift	MAS1L	NM_052967.1		2,158,6098	A1A1,A1R,RR		1.3327,1.2201,1.2943				162,12354				SO:0001589	frameshift_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455156_29455157delAC	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.523_524delGT	6.37:g.29455166_29455167delAC	ENSP00000366331:p.Val175fs						p.V175fs	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	581_582	-			175					Q5SUN5	Frame_Shift_Del	DEL	ENST00000377127.3	37	c.523_524delGT	CCDS4661.1																																																																																				0.495	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		11	306						11	306	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521769	32521771	+	RNA	DEL	ATT	ATT	-	rs66758325|rs115430423|rs67954476		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:32521769_32521771delATT	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AGGTTTAGTGATTTTTATTCCAA	0.429																																						ENST00000411500.1																			0																																																			0							g.chr6:32521769_32521771delATT	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521769_32521771delATT								NR_001298.1						0	740	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.429	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		10	32						10	32	---	---	---	---
C6orf89	221477	broad.mit.edu	37	6	36867371	36867371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:36867371delC	ENST00000480824.2	+	3	445	c.151delC	c.(151-153)cccfs	p.P53fs	C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	53					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						ACCTCAGAGACCCCCCCCGCA	0.428																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(151-153)ccfs		chromosome 6 open reading frame 89							62.0	69.0	66.0					6																	36867371		2203	4300	6503	SO:0001589	frameshift_variant	221477					integral to membrane		g.chr6:36867371delC	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.151delC	6.37:g.36867371delC	ENSP00000475947:p.Pro53fs					C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Frame_Shift_Del_p.P53fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.P60fs	p.P53fs			Q6UWU4	CF089_HUMAN			3	445	+			53					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Frame_Shift_Del	DEL	ENST00000480824.2	37	c.151delC																																																																																					0.428	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		8	401						8	401	---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCTCCTGAGTTTTCTTTGCA	0.584																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2611-2613)tcafs		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44269188_44269189insT	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2612dupA	6.37:g.44269192_44269192dupT	ENSP00000244571:p.Thr871fs					TMEM151B_ENST00000438774.2_Intron	p.S871fs	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2613_2614	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		871						Frame_Shift_Ins	INS	ENST00000244571.4	37	c.2611_2612insA	CCDS34464.1																																																																																				0.584	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		7	611						7	611	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A	rs551348450	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:76599857_76599858insA	ENST00000369977.3	+	26	2881_2882	c.2742_2743insA	c.(2743-2745)aaafs	p.K915fs	MYO6_ENST00000369985.4_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369981.3_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.K915fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	915					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	18	0.00359425	0.0083	0.0014	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0061					ENST00000369981.3																			1	Deletion - Frameshift(1)	p.K917fs*10(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2740-2745)caaaaafs		myosin VI				9,4255		0,9,2123						5.8	1.0			86	31,8223		0,31,4096	no	frameshift	MYO6	NM_004999.3		0,40,6219	A1A1,A1R,RR		0.3756,0.2111,0.3195				40,12478				SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599857_76599858insA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2751dupA	6.37:g.76599866_76599866dupA	ENSP00000358994:p.Lys915fs					MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs	p.QK914fs			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	3021_3022	+		all_hematologic(105;0.189)	914					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Ins	INS	ENST00000369977.3	37	c.2742_2743insA	CCDS34487.1																																																																																				0.381	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		17	415						17	415	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58.0	61.0	60.0			0.1	1.0	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		8	419						8	419	---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcctcg>tcg	p.11_12SS>S	MAP3K7_ENST00000369332.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369327.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369325.3_In_Frame_Del_p.11_12SS>S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	11	Interaction with MAPK8IP1. {ECO:0000250}.|Poly-Ser.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(31-36)tcg>tc		mitogen-activated protein kinase kinase kinase 7																																				SO:0001651	inframe_deletion	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91296568_91296570delGAG	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.33_35delCTC	6.37:g.91296577_91296579delGAG	ENSP00000358335:p.Ser14del					MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del	p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	1	194_196	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	13			Poly-Ser.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	In_Frame_Del	DEL	ENST00000369329.3	37	c.33_35delCTC	CCDS5028.1																																																																																				0.655	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		8	128						8	128	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150713	65150714	+	RNA	INS	-	-	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:65150713_65150714insA	ENST00000430126.2	+	0	694_695							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		CATACCATGAGAAAATCTCTAA	0.436																																						ENST00000430126.2																			0																																																			0							g.chr7:65150713_65150714insA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150717_65150717dupA														0	694_695	+									RNA	INS	ENST00000430126.2	37																																																																																						0.436	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		13	147						13	147	---	---	---	---
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aaafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408																																						ENST00000257663.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(229-231)aafs		transmembrane protein 60							142.0	141.0	141.0					7																	77423460		2203	4300	6503	SO:0001589	frameshift_variant	85025					integral to membrane		g.chr7:77423460delT	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.231delA	7.37:g.77423460delT	ENSP00000257663:p.Lys77fs						p.K77fs	NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN			2	607	-			77					A4D1C3|Q86UM0	Frame_Shift_Del	DEL	ENST00000257663.3	37	c.231delA	CCDS5593.1																																																																																				0.408	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		15	562						15	562	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82595446	82595447	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:82595446_82595447insT	ENST00000333891.9	-	4	3994_3995	c.3657_3658insA	c.(3655-3660)aaactafs	p.L1220fs	PCLO_ENST00000423517.2_Frame_Shift_Ins_p.L1220fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCAGGGATTAGTTTTTTTTCTT	0.386																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(3655-3660)aataatfs		piccolo presynaptic cytomatrix protein																																				SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595446_82595447insT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3658dupA	7.37:g.82595454_82595454dupT	ENSP00000334319:p.Leu1220fs					PCLO_ENST00000333891.8_Frame_Shift_Ins_p.NN1219fs	p.NN1219fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	3994_3995	-			1158						Frame_Shift_Ins	INS	ENST00000333891.9	37	c.3657_3658insA	CCDS47630.1																																																																																				0.386	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	954						7	954	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		9	273						9	273	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(313-315)aafs		microcephalin 1							83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	79648					microtubule organizing center		g.chr8:6289099delA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs					MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	4	389	+		Hepatocellular(245;0.0663)	107					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	c.313delA	CCDS43689.1																																																																																				0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		8	408						8	408	---	---	---	---
BMP1	649	broad.mit.edu	37	8	22020159	22020161	+	5'Flank	DEL	GTG	GTG	-	rs183533911	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr8:22020159_22020161delGTG	ENST00000306385.5	+	0	0				SFTPC_ENST00000524255.1_Intron|BMP1_ENST00000306349.8_5'Flank|BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000521315.1_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|BMP1_ENST00000397814.3_5'Flank|SFTPC_ENST00000520605.1_Intron	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCTTATCGTGGTGGTGGTGG	0.601																																						ENST00000521315.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(115-117)del		surfactant protein C																																				SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020159_22020161delGTG		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020168_22020170delGTG	Exception_encountered					SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del	p.V44del			P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	147_149	+			44					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	In_Frame_Del	DEL	ENST00000306385.5	37	c.115_117delGTG	CCDS6026.1																																																																																				0.601	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		8	661						8	661	---	---	---	---
GTF2E2	2961	broad.mit.edu	37	8	30511012	30511014	+	In_Frame_Del	DEL	GAT	GAT	-	rs572162637|rs113662547		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr8:30511012_30511014delGAT	ENST00000355904.4	-	2	384_386	c.102_104delATC	c.(100-105)tcatcg>tcg	p.34_35SS>S		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	34	Poly-Ser.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CTTCTTTGACGATGATGATGATG	0.384																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(100-105)tcg>tc		general transcription factor IIE, polypeptide 2, beta 34kDa				132,4130		66,0,2065						-1.2	0.3			151	153,8101		76,1,4050	no	coding	GTF2E2	NM_002095.4		142,1,6115	A1A1,A1R,RR		1.8536,3.0971,2.2771				285,12231				SO:0001651	inframe_deletion	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30511012_30511014delGAT	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.102_104delATC	8.37:g.30511021_30511023delGAT	ENSP00000348168:p.Ser36del						p.SS34del	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	2	384_386	-			34			Poly-Ser.		D3DSV2|Q9H2B9	In_Frame_Del	DEL	ENST00000355904.4	37	c.102_104delATC	CCDS6078.1																																																																																				0.384	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		7	576						7	576	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(766-768)del		thymocyte selection-associated high mobility group box																																				SO:0001651	inframe_deletion	9760					nucleus	DNA binding	g.chr8:59750796_59750798delCTT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.766_768delAAG	8.37:g.59750805_59750807delCTT	ENSP00000354842:p.Lys256del						p.K256del	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	986_988	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	256					Q96AV5	In_Frame_Del	DEL	ENST00000361421.1	37	c.766_768delAAG	CCDS34897.1																																																																																				0.453	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		7	778						7	778	---	---	---	---
ASPH	444	broad.mit.edu	37	8	62588724	62588726	+	Intron	DEL	TTC	TTC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr8:62588724_62588726delTTC	ENST00000379454.4	-	3	510				ASPH_ENST00000517856.1_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000379449.6_In_Frame_Del_p.E174del|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CGGTTTCGCTTTCTTCTTCTTCT	0.369																																						ENST00000379449.6																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(520-522)del		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)																																			SO:0001627	intron_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62588724_62588726delTTC	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.322+4800GAA>-	8.37:g.62588733_62588735delTTC						ASPH_ENST00000517903.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000356457.5_Intron	p.E174del	NM_001164756.1	NP_001158228.1	Q12797	ASPH_HUMAN			5	694_696	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	0			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	In_Frame_Del	DEL	ENST00000379454.4	37	c.520_522delGAA	CCDS34898.1																																																																																				0.369	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		9	300						9	300	---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494020	65494021	+	In_Frame_Ins	INS	-	-	GCA	rs71561231|rs34265378|rs62519836|rs564889045	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr8:65494020_65494021insGCA	ENST00000321870.1	+	1	1207_1208	c.673_674insGCA	c.(673-675)ggc>gGCAgc	p.234_235insS	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S234delS(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						cggcagcggcggcagcagcagc	0.718																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			1	Deletion - In frame(1)	p.S234delS(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(673-675)cag>GCAcag		basic helix-loop-helix family, member e22																																				SO:0001652	inframe_insertion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494020_65494021insGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.701_703dupGCA	8.37:g.65494027_65494029dupGCA	ENSP00000318799:p.Ser234_Ser234dup					RP11-21C4.1_ENST00000517909.1_RNA	p.224_225insA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1207_1208	+			224			Gly-rich.|Ser-rich.			In_Frame_Ins	INS	ENST00000321870.1	37	c.673_674insGCA	CCDS6179.1																																																																																				0.718	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		15	26						15	26	---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94747495	94747496	+	Frame_Shift_Del	DEL	TA	TA	-	rs111589624	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr8:94747495_94747496delTA	ENST00000399300.2	-	3	1356_1357	c.1143_1144delTA	c.(1141-1146)gataggfs	p.DR381fs	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Frame_Shift_Del_p.DR381fs|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	381							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGTCCGGGCCTATCTCTCTCTA	0.361																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1141-1146)gaggfs		RNA binding motif protein 12B																																				SO:0001589	frameshift_variant	389677						nucleotide binding|RNA binding	g.chr8:94747495_94747496delTA		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1143_1144delTA	8.37:g.94747495_94747496delTA	ENSP00000382239:p.Asp381fs					RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Frame_Shift_Del_p.DR381fs	p.DR381fs	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1356_1357	-	Breast(36;4.14e-07)		381					A8MYB5	Frame_Shift_Del	DEL	ENST00000399300.2	37	c.1143_1144delTA	CCDS43755.1																																																																																				0.361	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		9	751						9	751	---	---	---	---
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1084-1086)aafs		dihydropyrimidinase							179.0	176.0	177.0					8																	105440214		2203	4300	6503	SO:0001589	frameshift_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105440214delT	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1086delA	8.37:g.105440214delT	ENSP00000276651:p.Lys362fs						p.K362fs	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		6	1218	-			362						Frame_Shift_Del	DEL	ENST00000351513.2	37	c.1086delA	CCDS6302.1																																																																																				0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		8	1079						8	1079	---	---	---	---
OXR1	55074	broad.mit.edu	37	8	107704955	107704955	+	Splice_Site	DEL	G	G	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr8:107704955delG	ENST00000442977.2	+	6	627		c.e6-1		OXR1_ENST00000445937.1_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000517566.2_Splice_Site	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1						adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAAAAAAGAATCCTGATG	0.348																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.e7-1		oxidation resistance 1							34.0	37.0	36.0					8																	107704955		2203	4299	6502	SO:0001630	splice_region_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107704955delG	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.529-1G>-	8.37:g.107704955delG						OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000497705.1_Splice_Site		NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	786	+								A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Splice_Site	DEL	ENST00000442977.2	37		CCDS56548.1																																																																																				0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	Intron	8	208						8	208	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124140521	124140521	+	Splice_Site	DEL	T	T	-	rs570441854		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr8:124140521delT	ENST00000287380.1	+	14	1975	c.1885delT	c.(1885-1887)ttt>tt	p.F631fs	TBC1D31_ENST00000378080.2_Splice_Site_p.F526fs|TBC1D31_ENST00000521676.1_Splice_Site_p.F508fs|TBC1D31_ENST00000309336.3_Splice_Site_p.F631fs|TBC1D31_ENST00000327098.5_Splice_Site_p.F631fs|TBC1D31_ENST00000522420.1_Splice_Site_p.F526fs|TBC1D31_ENST00000518805.1_Intron	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	631						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTCTTACAGTTTTTTTTTCA	0.323																																						ENST00000287380.1																			0											c.e14-1		TBC1 domain family, member 31							76.0	76.0	76.0					8																	124140521		2203	4300	6503	SO:0001630	splice_region_variant	93594							g.chr8:124140521delT	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1T>-	8.37:g.124140521delT						TBC1D31_ENST00000378080.2_Splice_Site_p.F526_splice|TBC1D31_ENST00000309336.3_Splice_Site_p.F631_splice|TBC1D31_ENST00000521676.1_Splice_Site_p.F508_splice|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000522420.1_Splice_Site_p.F526_splice|TBC1D31_ENST00000327098.5_Splice_Site_p.F631_splice	p.F631_splice	NM_145647.3	NP_663622.2					14	1975	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Splice_Site	DEL	ENST00000287380.1	37	c.1884_splice	CCDS6338.1																																																																																				0.323	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647	Frame_Shift_Del	8	333						8	333	---	---	---	---
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	DEL	G	G	-	rs201713470	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:41962602delG	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1																			0																																																			0							g.chr9:41962602delG																													9.37:g.41962602delG								NR_003670.1						0	902	-									RNA	DEL	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			8	437						8	437	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214.0	216.0	215.0					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		7	978						7	978	---	---	---	---
ZNF367	195828	broad.mit.edu	37	9	99180258	99180259	+	In_Frame_Ins	INS	-	-	GGC	rs553637829	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:99180258_99180259insGGC	ENST00000375256.4	-	1	352_353	c.56_57insGCC	c.(55-57)ccc>ccGCCc	p.19_19P>PP		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	19	Pro-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				AGAAGATGACGggcggcggcgg	0.752														27	0.00539137	0.0008	0.0029	5008	,	,		10525	0.0		0.0219	False		,,,				2504	0.002					ENST00000375256.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12						c.(55-57)cgt>cGCCgt		zinc finger protein 367																																				SO:0001652	inframe_insertion	195828				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:99180258_99180259insGGC	AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"""Zinc fingers, C2H2-type"""	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.54_56dupGCC	9.37:g.99180265_99180267dupGGC	ENSP00000364405:p.Pro19dup						p.19_19R>RR	NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN			1	352_353	-		Acute lymphoblastic leukemia(62;0.0167)	19			Pro-rich.		Q6Q7C8	In_Frame_Ins	INS	ENST00000375256.4	37	c.56_57insGCC	CCDS6718.1																																																																																				0.752	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053266.1			10	40						10	40	---	---	---	---
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:102590616_102590618delCAC	ENST00000395097.2	+	3	1021_1023	c.292_294delCAC	c.(292-294)cacdel	p.H108del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000330847.1_In_Frame_Del_p.H119del	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108	Poly-His.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma																																	ENST00000330847.1				Dom	yes		9	9q22	8013	T	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""			M	EWSR1		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)	0											c.(325-327)del		nuclear receptor subfamily 4, group A, member 3																																				SO:0001651	inframe_deletion	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr9:102590616_102590618delCAC	U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.292_294delCAC	9.37:g.102590625_102590627delCAC	ENSP00000378531:p.His108del					NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del	p.H119del			Q92570	NR4A3_HUMAN			2	369_371	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	108					A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	In_Frame_Del	DEL	ENST00000395097.2	37	c.325_327delCAC	CCDS6743.1																																																																																				0.616	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			11	184						11	184	---	---	---	---
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-	rs571278001|rs145591109		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:139734633_139734635delAGA	ENST00000311502.7	+	14	2194_2196	c.1958_1960delAGA	c.(1957-1962)gagaag>gag	p.K660del	RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.K661del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000371675.3_In_Frame_Del_p.K545del			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	660	Interaction with CDKN2A.|Lys-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CCCTCTaaggagaagaagaagaa	0.571																																						ENST00000371675.3																			0											c.(1612-1617)gag>g		RAB, member RAS oncogene family-like 6			,	149,3501		4,141,1680					,	2.6	1.0		dbSNP_134	65	433,7429		12,409,3510	no	coding,coding	C9orf86	NM_024718.4,NM_001173988.1	,	16,550,5190	A1A1,A1R,RR		5.5075,4.0822,5.0556	,	,		582,10930				SO:0001651	inframe_deletion	55684							g.chr9:139734633_139734635delAGA	AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.1958_1960delAGA	9.37:g.139734642_139734644delAGA	ENSP00000311134:p.Lys660del					RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR	p.EK538del							14	2498_2500	+								A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	In_Frame_Del	DEL	ENST00000311502.7	37	c.1613_1615delAGA	CCDS48058.1																																																																																				0.571	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055141.4	NM_024718		8	276						8	276	---	---	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs112207161	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619														2708	0.540735	0.916	0.4063	5008	,	,		10303	0.3244		0.5408	False		,,,				2504	0.3517					ENST00000449193.2																			2	Insertion - In frame(2)	p.E428_G429insEE(2)	soft_tissue(2)								c.(1285-1287)ggg>AGGAGGggg		SKI/DACH domain containing 1				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640							g.chr10:21805466_21805467insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1280_1285dupAGGAGG	10.37:g.21805467_21805472dupCCTCCT	ENSP00000410041:p.Glu427_Glu428dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	p.428_429insRR	NM_207371.3	NP_997254.3					4	3537_3538	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGGAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		9	21						9	21	---	---	---	---
C10orf55	414236	broad.mit.edu	37	10	75673298	75673298	+	Intron	DEL	A	A	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:75673298delA	ENST00000409178.1	-	3	268				PLAU_ENST00000372762.4_Splice_Site_p.G118fs|PLAU_ENST00000446342.1_Splice_Site_p.G137fs|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154fs	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					GTCCTCCAGGAAAAAAGCCCT	0.517																																						ENST00000446342.1																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16						c.e6-1		plasminogen activator, urokinase	Amiloride(DB00594)|Urokinase(DB00013)						156.0	188.0	177.0					10																	75673298		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75673298delA		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-465T>-	10.37:g.75673298delA						PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron	p.G137_splice	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN			6	893	+	Prostate(51;0.0112)		154			Kringle.		Q3KRG4|Q8NAK4	Splice_Site	DEL	ENST00000409178.1	37	c.409_splice	CCDS53541.1																																																																																				0.517	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		7	1941						7	1941	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88753099	88753100	+	RNA	INS	-	-	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:88753099_88753100insT	ENST00000444431.1	+	0	64				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AATGAGTTTACTTTTTTTTTTA	0.307																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88753099_88753100insT			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88753109_88753109dupT						RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	64	+								B9EIP7|D3DWE4	RNA	INS	ENST00000444431.1	37																																																																																						0.307	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		12	140						12	140	---	---	---	---
ABCC2	1244	broad.mit.edu	37	10	101559000	101559000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:101559000delA	ENST00000370449.4	+	8	1017	c.904delA	c.(904-906)aaafs	p.K303fs		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	303					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GTCTGGGACCAAAAAAGATGT	0.403																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(904-906)aafs		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						195.0	213.0	207.0					10																	101559000		2203	4300	6503	SO:0001589	frameshift_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101559000delA	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.904delA	10.37:g.101559000delA	ENSP00000359478:p.Lys303fs						p.K303fs	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	8	1017	+		Colorectal(252;0.234)	303					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Frame_Shift_Del	DEL	ENST00000370449.4	37	c.904delA	CCDS7484.1																																																																																				0.403	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		8	996						8	996	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(658-660)del		nucleolar and coiled-body phosphoprotein 1																																				SO:0001651	inframe_deletion	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919000_103919002delAGC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.658_660delAGC	10.37:g.103919009_103919011delAGC	ENSP00000474710:p.Ser227del					NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del	p.S227del			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	893_895	+		Colorectal(252;0.122)	227			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	ENST00000605788.1	37	c.658_660delAGC	CCDS7530.1																																																																																				0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		7	721						7	721	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		9	785						9	785	---	---	---	---
TBC1D10C	374403	broad.mit.edu	37	11	67177148	67177149	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:67177148_67177149insG	ENST00000542590.1	+	9	1278_1279	c.1264_1265insG	c.(1264-1266)cggfs	p.R422fs	TBC1D10C_ENST00000312390.5_Frame_Shift_Ins_p.R422fs|TBC1D10C_ENST00000526387.1_3'UTR			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	422	Interaction with calcineurin.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTCCTGACTCGGGCCCGGGGC	0.698																																						ENST00000312390.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(1264-1266)ggcfs		TBC1 domain family, member 10C				34,3566		0,34,1766						3.0	1.0			10	68,7198		4,60,3569	no	frameshift	TBC1D10C	NM_198517.2		4,94,5335	A1A1,A1R,RR		0.9359,0.9444,0.9387				102,10764				SO:0001589	frameshift_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67177148_67177149insG	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.1267dupG	11.37:g.67177151_67177151dupG	ENSP00000443654:p.Arg422fs					TBC1D10C_ENST00000526387.1_3'UTR|TBC1D10C_ENST00000542590.1_Frame_Shift_Ins_p.G422fs	p.G422fs	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		10	1293_1294	+			422			Interaction with calcineurin.		G3V1D6	Frame_Shift_Ins	INS	ENST00000542590.1	37	c.1264_1265insG	CCDS8162.1																																																																																				0.698	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		9	95						9	95	---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129752495	129752496	+	Frame_Shift_Ins	INS	-	-	T	rs149369172		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:129752495_129752496insT	ENST00000446488.3	-	9	1035_1036	c.932_933insA	c.(931-933)aagfs	p.K311fs	NFRKB_ENST00000524746.1_Frame_Shift_Ins_p.K311fs|NFRKB_ENST00000524794.1_Frame_Shift_Ins_p.K336fs|NFRKB_ENST00000304521.5_Frame_Shift_Ins_p.K311fs	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	311	Lys-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTTCCTTAACCTTTTTTTTAAG	0.441																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(931-933)agtfs		nuclear factor related to kappaB binding protein																																				SO:0001589	frameshift_variant	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129752495_129752496insT		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.933dupA	11.37:g.129752503_129752503dupT	ENSP00000400476:p.Lys311fs					NFRKB_ENST00000304521.5_Frame_Shift_Ins_p.S311fs|NFRKB_ENST00000524794.1_Frame_Shift_Ins_p.S336fs|NFRKB_ENST00000524746.1_Frame_Shift_Ins_p.S311fs	p.S311fs	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	9	1035_1036	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	311			Lys-rich.		Q12869|Q15312|Q9H048	Frame_Shift_Ins	INS	ENST00000446488.3	37	c.932_933insA	CCDS44770.1																																																																																				0.441	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		7	517						7	517	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(520-522)ccfs		fatty acyl CoA reductase 2							108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29450110delA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs					FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs	p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			4	790	+			174					F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	c.522delA	CCDS8717.1																																																																																				0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		12	651						12	651	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:55759486delT	ENST00000343399.3	+	1	592	c.592delT	c.(592-594)tttfs	p.F199fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393																																						ENST00000343399.3																			1	Deletion - Frameshift(1)	p.L200fs*1(1)	large_intestine(1)	endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(592-594)ttfs		olfactory receptor, family 6, subfamily C, member 75							154.0	133.0	140.0					12																	55759486		2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759486delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.592delT	12.37:g.55759486delT	ENSP00000368987:p.Phe199fs						p.F199fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	592	+			199						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.592delT	CCDS31820.1																																																																																				0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			8	556						8	556	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:57674205_57674207delTGC	ENST00000347140.3	-	14	1626_1628	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_ENST00000358907.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_ENST00000413953.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_ENST00000402412.1_In_Frame_Del_p.426_427QQ>Q|R3HDM2_ENST00000403821.2_In_Frame_Del_p.412_413QQ>Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000441731.2_In_Frame_Del_p.73_74QQ>Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	412	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1276-1281)caa>ca		R3H domain containing 2																																				SO:0001651	inframe_deletion	22864					nucleus	nucleic acid binding	g.chr12:57674205_57674207delTGC	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1236_1238delGCA	12.37:g.57674214_57674216delTGC	ENSP00000317903:p.Gln413del					R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del	p.QQ426del			Q9Y2K5	R3HD2_HUMAN			14	1668_1670	-			412			Gln-rich.		Q2M1T9|Q3ZCT5	In_Frame_Del	DEL	ENST00000347140.3	37	c.1278_1280delGCA	CCDS8937.2																																																																																				0.576	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		7	428						7	428	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88566417	88566417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:88566417delT	ENST00000266712.6	+	8	1314	c.1094delT	c.(1093-1095)cttfs	p.L365fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	365					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCATCGAACCTTTTTTTTCCA	0.313																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1093-1095)ctfs		transmembrane and tetratricopeptide repeat containing 3				18,4246		6,6,2120	135.0	127.0	130.0			5.5	1.0	12		131	19,8235		6,7,4114	no	frameshift	TMTC3	NM_181783.3		12,13,6234	A1A1,A1R,RR		0.2302,0.4221,0.2956			88566417	37,12481	2203	4299	6502	SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88566417delT		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1094delT	12.37:g.88566417delT	ENSP00000266712:p.Leu365fs						p.L365fs	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1314	+			365					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.1094delT	CCDS9032.1																																																																																				0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		7	634						7	634	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	RP11-173P15.3_ENST00000535720.1_RNA|MLEC_ENST00000412616.2_In_Frame_Del_p.K159del|RP11-173P15.3_ENST00000541383.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		7	655						7	655	---	---	---	---
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr13:20041394delA	ENST00000400230.2	-	7	527	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	161					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(481-483)ttfs		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			,,	4,21,4229		0,0,4,1,19,2103	46.0	51.0	49.0		,,	2.4	0.0	13		49	5,25,8188		0,1,4,4,16,4084	no	codingComplex,intron,intron	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	,,	0,1,8,5,35,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3651,0.5877,0.441	,,	,,	20041394	9,46,12417	2200	4283	6483	SO:0001589	frameshift_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041394delA	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.483delT	13.37:g.20041394delA	ENSP00000383089:p.Phe161fs					TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382975.4_Intron	p.F161fs			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	7	527	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	161					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Del	DEL	ENST00000400230.2	37	c.483delT	CCDS45014.1																																																																																				0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		9	395						9	395	---	---	---	---
EEF1DP3	196549	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	GT	-	rs369428918		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr13:32527507_32527508delGT	ENST00000428783.1	+	0	1207_1208							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										TCTGGCCTGAGTGTGTGTGTGT	0.46																																						ENST00000428783.1																			0																																																			0							g.chr13:32527507_32527508delGT			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527517_32527518delGT														0	1207_1208	+								Q08AR3	RNA	DEL	ENST00000428783.1	37																																																																																						0.460	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		10	300						10	300	---	---	---	---
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr13:45580365_45580367delGAT	ENST00000379151.4	+	3	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	GPALPP1_ENST00000357537.3_De_novo_Start_InFrame|GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	88	Poly-Asp.																Ggatgatgacgatgatgatgatg	0.335																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(250-252)del						311,3953		154,3,1975						-7.1	0.0			182	654,7600		325,4,3798	no	coding	KIAA1704	NM_018559.2		479,7,5773	A1A1,A1R,RR		7.9234,7.2936,7.7089				965,11553				SO:0001651	inframe_deletion	0							g.chr13:45580365_45580367delGAT	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.250_252delGAT	13.37:g.45580374_45580376delGAT	ENSP00000368447:p.Asp88del					KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del	p.D88del			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	285_287	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	88			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	In_Frame_Del	DEL	ENST00000379151.4	37	c.250_252delGAT	CCDS9394.1																																																																																				0.335	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		16	971						16	971	---	---	---	---
LRCH1	23143	broad.mit.edu	37	13	47243183	47243186	+	Frame_Shift_Del	DEL	CCTG	CCTG	-	rs564905243	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr13:47243183_47243186delCCTG	ENST00000389798.3	+	3	668_671	c.471_474delCCTG	c.(469-474)gccctgfs	p.AL157fs	LRCH1_ENST00000311191.6_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	157										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCTGTCCGCCCTGCCTGCCTGCC	0.436																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(469-474)gcfs		leucine-rich repeats and calponin homology (CH) domain containing 1																																				SO:0001589	frameshift_variant	23143							g.chr13:47243183_47243186delCCTG	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.471_474delCCTG	13.37:g.47243191_47243194delCCTG	ENSP00000374448:p.Ala157fs					LRCH1_ENST00000389798.3_Frame_Shift_Del_p.AL157fs|LRCH1_ENST00000389797.3_Frame_Shift_Del_p.AL157fs	p.AL157fs	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	3	700_703	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	157					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Frame_Shift_Del	DEL	ENST00000389798.3	37	c.471_474delCCTG	CCDS31972.1																																																																																				0.436	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		8	850						8	850	---	---	---	---
RNASEH2B	79621	broad.mit.edu	37	13	51530587	51530587	+	Frame_Shift_Del	DEL	A	A	-	rs75254367		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr13:51530587delA	ENST00000336617.3	+	11	1315	c.916delA	c.(916-918)aaafs	p.K308fs	RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	308					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GGTAAAAAATAAAAAAAAAAT	0.299																																						ENST00000336617.3																			0				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(916-918)aafs		ribonuclease H2, subunit B			,	196,98,3922		10,2,174,0,96,1826	18.0	20.0	20.0		,	0.7	0.0	13	dbSNP_131	20	322,192,7686		10,1,301,0,191,3597	no	codingComplex,intron	RNASEH2B	NM_024570.3,NM_001142279.2	,	20,3,475,0,287,5423	A1A1,A1A2,A1R,A2A2,A2R,RR		6.2683,6.9734,6.5077	,	,	51530587	518,290,11608	2193	4282	6475	SO:0001589	frameshift_variant	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51530587delA	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.916delA	13.37:g.51530587delA	ENSP00000337623:p.Lys308fs					RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	p.K308fs	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	11	1315	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	308					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Frame_Shift_Del	DEL	ENST00000336617.3	37	c.916delA	CCDS9425.1																																																																																				0.299	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3	NM_024570		9	240						9	240	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000339180.4_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000397227.3_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			7	619						7	619	---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35782216	35782216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:35782216delA	ENST00000261479.4	+	5	659	c.539delA	c.(538-540)gaafs	p.E180fs	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs|PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AGCTTCCTTGAAAAAAAAGTG	0.403																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(538-540)gafs		proteasome (prosome, macropain) subunit, alpha type, 6							102.0	111.0	108.0					14																	35782216		2203	4300	6503	SO:0001589	frameshift_variant	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35782216delA	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.539delA	14.37:g.35782216delA	ENSP00000261479:p.Glu180fs					PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs|PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|KIAA0391_ENST00000557565.1_3'UTR	p.E180fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	5	659	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		180					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Frame_Shift_Del	DEL	ENST00000261479.4	37	c.539delA	CCDS9655.1																																																																																				0.403	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			8	915						8	915	---	---	---	---
RBM25	58517	broad.mit.edu	37	14	73572607	73572608	+	Frame_Shift_Del	DEL	AG	AG	-	rs150988201		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:73572607_73572608delAG	ENST00000261973.7	+	11	1480_1481	c.1195_1196delAG	c.(1195-1197)agafs	p.R399fs	RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	399	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		agagcgggaaagagagagagag	0.446																																						ENST00000261973.7																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(1195-1197)afs		RNA binding motif protein 25																																				SO:0001589	frameshift_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73572607_73572608delAG	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1195_1196delAG	14.37:g.73572617_73572618delAG	ENSP00000261973:p.Arg399fs					RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs	p.R399fs	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	11	1480_1481	+			399			Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Frame_Shift_Del	DEL	ENST00000261973.7	37	c.1195_1196delAG	CCDS32113.1																																																																																				0.446	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		8	147						8	147	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93720047	93720048	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:93720047_93720048insT	ENST00000334746.5	-	7	2004_2005	c.1697_1698insA	c.(1696-1698)aatfs	p.N566fs	BTBD7_ENST00000393170.2_Frame_Shift_Ins_p.N140fs|BTBD7_ENST00000554565.1_Frame_Shift_Ins_p.N215fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	566					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGATGCCAGCATTTTTTTGCCG	0.386																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(1696-1698)agcfs		BTB (POZ) domain containing 7																																				SO:0001589	frameshift_variant	55727							g.chr14:93720047_93720048insT	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1698dupA	14.37:g.93720054_93720054dupT	ENSP00000335615:p.Asn566fs					BTBD7_ENST00000393170.2_Frame_Shift_Ins_p.S140fs|BTBD7_ENST00000554565.1_Frame_Shift_Ins_p.S215fs	p.S566fs	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	7	2004_2005	-		all_cancers(154;0.08)	566					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Frame_Shift_Ins	INS	ENST00000334746.5	37	c.1697_1698insA	CCDS32146.1																																																																																				0.386	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		7	599						7	599	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		7	604						7	604	---	---	---	---
BEGAIN	57596	broad.mit.edu	37	14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:101005271_101005273delCCT	ENST00000355173.2	-	7	886_888	c.815_817delAGG	c.(814-819)gaggcc>gcc	p.E272del	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_In_Frame_Del_p.E208del|BEGAIN_ENST00000443071.2_In_Frame_Del_p.E272del	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	272						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(622-627)gcc>g		brain-enriched guanylate kinase-associated																																				SO:0001651	inframe_deletion	57596					cytoplasm|membrane	protein binding	g.chr14:101005271_101005273delCCT	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.815_817delAGG	14.37:g.101005280_101005282delCCT	ENSP00000347301:p.Glu272del					BEGAIN_ENST00000443071.2_In_Frame_Del_p.EA274del|BEGAIN_ENST00000355173.2_In_Frame_Del_p.EA274del	p.EA210del			Q9BUH8	BEGIN_HUMAN			5	4027_4029	-		Melanoma(154;0.212)	274					Q9NPU3|Q9P282	In_Frame_Del	DEL	ENST00000355173.2	37	c.623_625delAGG	CCDS9962.1																																																																																				0.724	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		7	114						7	114	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709778	22709779	+	RNA	DEL	TC	TC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:22709778_22709779delTC	ENST00000314246.8	-	0	1069				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CATGCTACCATCTCTCTCTCTG	0.535																																						ENST00000314246.8																			0																																																			0							g.chr15:22709778_22709779delTC			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709786_22709787delTC														0	1069	-									RNA	DEL	ENST00000314246.8	37																																																																																						0.535	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		8	655						8	655	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:23312380delT	ENST00000560464.1	-	0	3118									hect domain and RLD 2 pseudogene 2																		TGTTAttttcttttttttttt	0.398																																						ENST00000560464.1																			0																																																			0							g.chr15:23312380delT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312380delT														0	3118	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.398	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			8	66						8	66	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		9	831						9	831	---	---	---	---
PLA2G4E	123745	broad.mit.edu	37	15	42302330	42302331	+	Frame_Shift_Ins	INS	-	-	C	rs267604201|rs55746726|rs202221046	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:42302330_42302331insC	ENST00000413860.2	-	1	114_115	c.115_116insG	c.(115-117)gccfs	p.A39fs	PLA2G4E_ENST00000399518.3_Intron|CTD-2382E5.2_ENST00000552704.1_RNA			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	49	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CAGAACACTGGCCCCCCCACCC	0.594														28	0.00559105	0.0113	0.0	5008	,	,		13205	0.0		0.002	False		,,,				2504	0.0112					ENST00000413860.2																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(115-117)cagfs		phospholipase A2, group IVE				31,154,2,709,30,27,2681		3,3,0,14,1,0,7,50,0,12,5,2,32,0,2,0,0,0,174,14,10,309,3,0,4,3,9,1160						-0.0	0.0		dbSNP_130	62	31,182,0,1316,52,50,6229		3,0,0,17,0,1,7,33,0,26,1,8,81,0,0,0,0,0,240,23,6,764,6,1,15,4,26,2668	no	intron	PLA2G4E	NM_001206670.1		6,3,0,31,1,1,14,83,0,38,6,10,113,0,2,0,0,0,414,37,16,1073,9,1,19,7,35,3828	A1A1,A1A2,A1A3,A1A4,A1A5,A1A6,A1R,A2A2,A2A3,A2A4,A2A5,A2A6,A2R,A3A3,A3A4,A3A5,A3A6,A3R,A4A4,A4A5,A4A6,A4R,A5A5,A5A6,A5R,A6A6,A6R,RR		20.7506,26.2245,22.4813				62,336,2,2025,82,77,8910				SO:0001589	frameshift_variant	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42302330_42302331insC		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.116dupG	15.37:g.42302337_42302337dupC	ENSP00000413897:p.Ala39fs					PLA2G4E_ENST00000399518.3_Intron	p.Q39fs			Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	1	114_115	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	0			C2.		Q6ZSC0	Frame_Shift_Ins	INS	ENST00000413860.2	37	c.115_116insG																																																																																					0.594	PLA2G4E-201	KNOWN	basic	protein_coding	protein_coding		NM_198442		7	123						7	123	---	---	---	---
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank|NME3_ENST00000563498.1_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		7	563						7	563	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:29998498_29998500delCTG	ENST00000308893.4	+	16	3948_3950	c.2905_2907delCTG	c.(2905-2907)ctgdel	p.L974del	TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	974	Leu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2905-2907)del		TAO kinase 2			,	25,3845		3,19,1913					,	-6.7	0.0			32	41,7581		7,27,3777	no	coding,intron	TAOK2	NM_016151.2,NM_004783.2	,	10,46,5690	A1A1,A1R,RR		0.5379,0.646,0.5743	,	,		66,11426				SO:0001651	inframe_deletion	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29998498_29998500delCTG	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2905_2907delCTG	16.37:g.29998507_29998509delCTG	ENSP00000310094:p.Leu974del					TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del|TAOK2_ENST00000279394.3_Intron	p.L974del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	3948_3950	+			974			Leu-rich.		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	In_Frame_Del	DEL	ENST00000308893.4	37	c.2905_2907delCTG	CCDS10663.1																																																																																				0.709	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		11	411						11	411	---	---	---	---
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)gagdel	p.E91del	COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576																																						ENST00000262507.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						c.(262-264)del		coenzyme Q9																																				SO:0001651	inframe_deletion	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57486732_57486734delGAG	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.262_264delGAG	16.37:g.57486741_57486743delGAG	ENSP00000262507:p.Glu91del					COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del	p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN			3	331_333	+			91					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	In_Frame_Del	DEL	ENST00000262507.6	37	c.262_264delGAG	CCDS32459.1																																																																																				0.576	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3	NM_020312		8	603						8	603	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71220807	71220808	+	5'UTR	INS	-	-	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:71220807_71220808insT	ENST00000393567.2	-	0	141_142				HYDIN_ENST00000538248.1_Frame_Shift_Ins_p.L25fs|HYDIN_ENST00000541601.1_Frame_Shift_Ins_p.L15fs|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000448691.1_5'UTR|HYDIN_ENST00000448089.2_5'UTR|HYDIN_ENST00000288168.10_Frame_Shift_Ins_p.L15fs|HYDIN_ENST00000393550.2_5'UTR	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein						cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTTTAGTAATTTTTTTTTCT	0.337																																						ENST00000538248.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(70-75)aatactfs		HYDIN, axonemal central pair apparatus protein																																				SO:0001623	5_prime_UTR_variant	54768							g.chr16:71220807_71220808insT	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.-10->A	16.37:g.71220816_71220816dupT						HYDIN_ENST00000393567.2_5'UTR|HYDIN_ENST00000448691.1_5'UTR|HYDIN_ENST00000393550.2_5'UTR|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000288168.10_Frame_Shift_Ins_p.NT14fs|HYDIN_ENST00000541601.1_Frame_Shift_Ins_p.NT14fs|HYDIN_ENST00000448089.2_5'UTR	p.NT24fs	NM_001198542.1	NP_001185471.1	Q4G0P3	HYDIN_HUMAN			2	106_107	-		Ovarian(137;0.0654)	0					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Ins	INS	ENST00000393567.2	37	c.72_73insA	CCDS59269.1																																																																																				0.337	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			7	398						7	398	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577558	7577558	+	Frame_Shift_Del	DEL	G	G	-	rs397516437		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:7577558delG	ENST00000269305.4	-	7	912	c.723delC	c.(721-723)tccfs	p.S241fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGCCCATGCAGGAACTGTTAC	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		50	Deletion - In frame(13)|Deletion - Frameshift(13)|Whole gene deletion(8)|Unknown(5)|Substitution - Missense(5)|Substitution - coding silent(3)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	large_intestine(8)|biliary_tract(6)|breast(5)|upper_aerodigestive_tract(4)|stomach(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|central_nervous_system(2)|urinary_tract(2)|oesophagus(2)|skin(2)|eye(2)|pancreas(2)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(721-723)tcfs	Other conserved DNA damage response genes	tumor protein p53							138.0	107.0	117.0					17																	7577558		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577558delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.723delC	17.37:g.7577558delG	ENSP00000269305:p.Ser241fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs	p.S241fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	855	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.723delC	CCDS11118.1																																																																																				0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		39	273						39	273	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)agcdel	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4573-4575)del		suppressor of Ty 6 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027202_27027204delAGC	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4573_4575delAGC	17.37:g.27027211_27027213delAGC	ENSP00000319104:p.Ser1528del					SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			34	4856_4858	+	Lung NSC(42;0.00431)		1528			Poly-Ser.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	In_Frame_Del	DEL	ENST00000314616.6	37	c.4573_4575delAGC	CCDS32596.1																																																																																				0.537	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		13	1158						13	1158	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		14	1032						14	1032	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:36583666_36583668delGCA	ENST00000270301.7	+	19	2286_2288	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_ENST00000401500.2_In_Frame_Del_p.Q766del			O43379	WDR62_HUMAN	WD repeat domain 62	766					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2284-2289)cgg>cg		WD repeat domain 62																																				SO:0001651	inframe_deletion	284403				cerebral cortex development	nucleus		g.chr19:36583666_36583668delGCA	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2286_2288delGCA	19.37:g.36583675_36583677delGCA	ENSP00000270301:p.Gln766del					WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		19	2321_2323	+	Esophageal squamous(110;0.162)		762					Q63HP9|Q659D7|Q8NBF7|Q96AD9	In_Frame_Del	DEL	ENST00000270301.7	37	c.2286_2288delGCA	CCDS33001.1																																																																																				0.616	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		12	784						12	784	---	---	---	---
ZNF793	390927	broad.mit.edu	37	19	38028414	38028415	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:38028414_38028415insT	ENST00000587143.1	+	6	1089_1090	c.854_855insT	c.(853-858)tgttttfs	p.CF285fs	ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Frame_Shift_Ins_p.CF285fs|ZNF793_ENST00000542455.1_Frame_Shift_Ins_p.CF285fs			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C288fs*113(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCTTTGAATGTTTTTTTTGTG	0.465																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			1	Deletion - Frameshift(1)	p.C288fs*113(1)	large_intestine(1)	kidney(2)|lung(1)	3						c.(853-855)tttfs		zinc finger protein 793				7,4097		0,7,2045						3.8	1.0			66	11,8185		2,7,4089	no	frameshift	ZNF793	NM_001013659.2		2,14,6134	A1A1,A1R,RR		0.1342,0.1706,0.1463				18,12282				SO:0001589	frameshift_variant	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38028414_38028415insT	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.862dupT	19.37:g.38028422_38028422dupT	ENSP00000468605:p.Cys285fs					ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Frame_Shift_Ins_p.F285fs|ZNF793_ENST00000542455.1_Frame_Shift_Ins_p.F285fs	p.F285fs			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	889_890	+			285					E9PGN4|Q7Z3Q9	Frame_Shift_Ins	INS	ENST00000587143.1	37	c.854_855insT	CCDS46062.1																																																																																				0.465	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		8	235						8	235	---	---	---	---
LIPE-AS1	100996307	broad.mit.edu	37	19	43136362	43136363	+	RNA	DEL	TG	TG	-	rs142080128		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:43136362_43136363delTG	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1				LIPE antisense RNA 1																		TGAGTATGTATGTGTGTGTGTG	0.505																																						ENST00000594688.1																			0																																																			0							g.chr19:43136362_43136363delTG	AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.43136372_43136373delTG						LIPE-AS1_ENST00000594624.2_RNA		NR_073179.1						0	1450	+									RNA	DEL	ENST00000594688.1	37																																																																																						0.505	LIPE-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000464099.1	NR_073179		11	131						11	131	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45381749	45381751	+	Intron	DEL	GAG	GAG	-	rs558397688	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		8	97						8	97	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			13	742						13	742	---	---	---	---
PRKD2	25865	broad.mit.edu	37	19	47201092	47201093	+	Frame_Shift_Ins	INS	-	-	ATGTA			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:47201092_47201093insATGTA	ENST00000291281.4	-	8	1361_1362	c.1136_1137insTACAT	c.(1135-1137)atcfs	p.-379fs	PRKD2_ENST00000600194.1_Frame_Shift_Ins_p.-222fs|PRKD2_ENST00000595515.1_Frame_Shift_Ins_p.-379fs|PRKD2_ENST00000433867.1_Frame_Shift_Ins_p.-379fs|PRKD2_ENST00000601806.1_Frame_Shift_Ins_p.-222fs			Q9BZL6	KPCD2_HUMAN	protein kinase D2						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCATTAGGGGGATGTACCCCAG	0.574																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1135-1137)accfs		protein kinase D2																																				SO:0001589	frameshift_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47201092_47201093insATGTA	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1132_1136dupTACAT	19.37:g.47201093_47201097dupATGTA	ENSP00000291281:p.Ile379fs					PRKD2_ENST00000601806.1_Frame_Shift_Ins_p.T222fs|PRKD2_ENST00000600194.1_Frame_Shift_Ins_p.T222fs|PRKD2_ENST00000595515.1_Frame_Shift_Ins_p.T379fs|PRKD2_ENST00000291281.4_Frame_Shift_Ins_p.T379fs	p.T379fs	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	9	1613_1614	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	379					Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Ins	INS	ENST00000291281.4	37	c.1136_1137insTACAT	CCDS12689.1																																																																																				0.574	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		10	645						10	645	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37137766	37137766	+	Frame_Shift_Del	DEL	C	C	-	rs531937205		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr20:37137766delC	ENST00000262879.6	+	6	1071	c.787delC	c.(787-789)cccfs	p.P263fs	RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.P41fs|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.P263fs|RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.P263fs|RALGAPB_ENST00000537204.1_Frame_Shift_Del_p.P263fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	263					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATTTAAAGTTCCCGATGAAGA	0.363																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(787-789)ccfs		Ral GTPase activating protein, beta subunit (non-catalytic)							216.0	194.0	201.0					20																	37137766		2203	4300	6503	SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37137766delC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.787delC	20.37:g.37137766delC	ENSP00000262879:p.Pro263fs					RALGAPB_ENST00000537204.1_Frame_Shift_Del_p.P263fs|RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.P263fs|RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.P41fs|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.P263fs	p.P263fs			Q86X10	RLGPB_HUMAN			6	1071	+			263					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Del	DEL	ENST00000262879.6	37	c.787delC	CCDS13305.1																																																																																				0.363	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		10	667						10	667	---	---	---	---
HNF4A	3172	broad.mit.edu	37	20	43052773	43052775	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr20:43052773_43052775delGCT	ENST00000316099.4	+	8	1097_1099	c.1008_1010delGCT	c.(1006-1011)gagctg>gag	p.L341del	HNF4A_ENST00000443598.2_In_Frame_Del_p.L341del|AL132772.1_ENST00000581483.1_RNA|HNF4A_ENST00000457232.1_In_Frame_Del_p.L319del|HNF4A_ENST00000609795.1_In_Frame_Del_p.L319del|HNF4A_ENST00000415691.2_In_Frame_Del_p.L341del|HNF4A_ENST00000316673.4_In_Frame_Del_p.L319del	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	341					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTTTGGAGAGCTGCTGCTGCTG	0.576																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(1006-1011)gag>ga		hepatocyte nuclear factor 4, alpha																																				SO:0001651	inframe_deletion	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43052773_43052775delGCT	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1008_1010delGCT	20.37:g.43052782_43052784delGCT	ENSP00000312987:p.Leu341del					HNF4A_ENST00000443598.2_In_Frame_Del_p.EL336del|HNF4A_ENST00000457232.1_In_Frame_Del_p.EL314del|HNF4A_ENST00000415691.1_In_Frame_Del_p.EL336del	p.EL336del	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		8	1097_1099	+		Myeloproliferative disorder(115;0.0122)	336					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	In_Frame_Del	DEL	ENST00000316099.4	37	c.1008_1010delGCT	CCDS13330.1																																																																																				0.576	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			7	133						7	133	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43221415	43221417	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr21:43221415_43221417delCTG	ENST00000269844.3	-	31	4617_4619	c.4507_4509delCAG	c.(4507-4509)cagdel	p.Q1503del	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_In_Frame_Del_p.Q1194del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1503	Poly-Gln.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCTGTACATCTGCTGCTGCTGC	0.611																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(3580-3582)del		PR domain containing 15			,	51,4111		1,49,2031					,	4.6	1.0			44	94,7930		4,86,3922	no	coding,coding	PRDM15	NM_022115.3,NM_001040424.1	,	5,135,5953	A1A1,A1R,RR		1.1715,1.2254,1.1899	,	,		145,12041				SO:0001651	inframe_deletion	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43221415_43221417delCTG	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4507_4509delCAG	21.37:g.43221424_43221426delCTG	ENSP00000269844:p.Gln1503del					PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del	p.Q1194del			P57071	PRD15_HUMAN			25	3681_3683	-			1503					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	In_Frame_Del	DEL	ENST00000269844.3	37	c.3580_3582delCAG	CCDS13676.1																																																																																				0.611	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		8	514						8	514	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		8	373						8	373	---	---	---	---
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	lincRNA	INS	-	-	A	rs397771084|rs58093396		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174				MIR374A_ENST00000362298.1_RNA|MIR545_ENST00000385085.1_RNA					FTX transcript, XIST regulator (non-protein coding)																		acctgtcccttaaaaaaaaaaa	0.455													|||unknown(HR)	2504	0.663311	0.4841	0.4856	3775	,	,		12960	0.5714		0.5	False		,,,				2504	0.4581					ENST00000429124.1																			0																																																			0							g.chrX:73506653_73506654insA	AK057701		Xq13.2	2013-12-18	2011-04-21	2011-04-21	ENSG00000230590	ENSG00000230590		"""Long non-coding RNAs"", ""-"""	37190	non-coding RNA	RNA, long non-coding	"""five prime to XIST"""		"""non-protein coding RNA 182"", ""mir-374a-545 cluster host gene (non-protein coding)"""	NCRNA00182, MIR374AHG		12045143, 21254562, 21118898	Standard	NR_028379		Approved	LINC00182, FLJ33139	uc010nlq.1		OTTHUMG00000021850		X.37:g.73506664_73506664dupA														0	174	-									RNA	INS	ENST00000429124.1	37																																																																																						0.455	FTX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057255.2	NR_028379		7	17						7	17	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76907782	76907784	+	In_Frame_Del	DEL	TCC	TCC	-	rs398123423|rs587780286		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:76907782_76907784delTCC	ENST00000373344.5	-	15	4591_4593	c.4377_4379delGGA	c.(4375-4380)gaggaa>gaa	p.1459_1460EE>E	ATRX_ENST00000395603.3_In_Frame_Del_p.1421_1422EE>E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1459	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ctcctcctcttcctcctcctcct	0.389			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4375-4380)gaa>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)		,	8,3713		0,6,2,1586,535					,	-5.4	0.0			152	29,6454		0,23,6,2334,1763	no	coding,coding	ATRX	NM_138270.2,NM_000489.3	,	0,29,8,3920,2298	A1A1,A1R,A1,RR,R		0.4473,0.215,0.3626	,	,		37,10167				SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907782_76907784delTCC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4377_4379delGGA	X.37:g.76907791_76907793delTCC	ENSP00000362441:p.Glu1464del					ATRX_ENST00000395603.3_In_Frame_Del_p.EE1425del|ATRX_ENST00000480283.1_5'UTR	p.EE1463del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			15	4591_4593	-			1463			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.4377_4379delGGA	CCDS14434.1																																																																																				0.389	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		7	309						7	309	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92928153	92928155	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:92928153_92928155delTGC	ENST00000373079.3	-	1	412_414	c.149_151delGCA	c.(148-153)agcact>act	p.S50del	NAP1L3_ENST00000475430.2_In_Frame_Del_p.S43del|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	50	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ctgccactagtgctgctgctgct	0.586																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(148-153)act>a		nucleosome assembly protein 1-like 3				192,3509		5,127,55,1456,470						-0.4	0.0			14	387,6034		9,190,179,2144,1556	no	coding	NAP1L3	NM_004538.5		14,317,234,3600,2026	A1A1,A1R,A1,RR,R		6.0271,5.1878,5.7202				579,9543				SO:0001651	inframe_deletion	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92928153_92928155delTGC		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.149_151delGCA	X.37:g.92928162_92928164delTGC	ENSP00000362171:p.Ser50del					NAP1L3_ENST00000475430.1_5'UTR	p.ST50del	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	412_414	-			50			Ser-rich.		B2RCM0|O60788	In_Frame_Del	DEL	ENST00000373079.3	37	c.149_151delGCA	CCDS14465.1																																																																																				0.586	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		10	109						10	109	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(1771-1773)gaafs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.E591fs	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	1848_1849	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		11	873						11	873	---	---	---	---
