#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
GPR124	25960	broad.mit.edu	37	8	37697651	37697651	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr8:37697651C>G	ENST00000412232.2	+	17	2537	c.2524C>G	c.(2524-2526)Ctg>Gtg	p.L842V	GPR124_ENST00000315215.7_Missense_Mutation_p.L625V	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	842					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGGCATCACCCTGCACTACTC	0.652																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1873-1875)Ctg>Gtg		G protein-coupled receptor 124							60.0	52.0	55.0					8																	37697651		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37697651C>G	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2524C>G	8.37:g.37697651C>G	ENSP00000406367:p.Leu842Val					GPR124_ENST00000412232.2_Missense_Mutation_p.L842V	p.L625V			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		14	2236	+			842					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1873C>G	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823331	0.71143	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.51817	0.69;0.69	3.95	3.95	0.45737	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000005	T	0.70509	0.3232	M	0.89095	3.005	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.75926	-0.3145	10	0.87932	D	0	-13.8914	10.7437	0.46168	0.0:0.8962:0.0:0.1038	.	625;842	Q96PE1-2;Q96PE1	.;GP124_HUMAN	V	835;625;842	ENSP00000323508:L625V;ENSP00000406367:L842V	ENSP00000323508:L625V	L	+	1	2	GPR124	37816809	0.927000	0.31430	1.000000	0.80357	0.653000	0.38743	1.349000	0.33998	2.192000	0.70111	0.655000	0.94253	CTG		0.652	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			6	44	0	0	0	1	0	6	44				
GLG1	2734	broad.mit.edu	37	16	74502950	74502950	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr16:74502950A>C	ENST00000422840.2	-	17	2329	c.2330T>G	c.(2329-2331)gTg>gGg	p.V777G	GLG1_ENST00000205061.5_Missense_Mutation_p.V777G|GLG1_ENST00000447066.2_Missense_Mutation_p.V766G	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	777					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CAGGCAGATCACCACGTCCAC	0.622																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(2329-2331)gTg>gGg		golgi glycoprotein 1							55.0	49.0	51.0					16																	74502950		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74502950A>C		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2330T>G	16.37:g.74502950A>C	ENSP00000405984:p.Val777Gly					GLG1_ENST00000205061.5_Missense_Mutation_p.V777G|GLG1_ENST00000447066.2_Missense_Mutation_p.V766G	p.V777G	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			17	2329	-			777					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.2330T>G	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.884162	0.91814	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.61703	1.905	0.80722	D	1	D;D;D	0.65815	0.972;0.989;0.995	D;P;P	0.68039	0.955;0.736;0.828	T	0.78879	-0.2030	9	0.87932	D	0	-6.6199	15.9855	0.80147	1.0:0.0:0.0:0.0	.	777;777;766	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	G	777;766;777	.	ENSP00000205061:V777G	V	-	2	0	GLG1	73060451	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.335000	0.96500	2.180000	0.69256	0.383000	0.25322	GTG		0.622	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		15	27	0	0	0	1	0	15	27				
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T	rs374392843		TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62.0	68.0	66.0					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		5	102	1	0	3.59834e-05	1	3.7619e-05	5	102				
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs376418550	byFrequency	TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																						ENST00000335016.5																			3	Substitution - Missense(3)	p.Q460H(3)	endometrium(2)|prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1378-1380)caG>caC		BMP2 inducible kinase							40.0	45.0	44.0					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		3	40	0	0	0	1	0	3	40				
BRCA2	675	broad.mit.edu	37	13	32968858	32968858	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr13:32968858T>C	ENST00000380152.3	+	25	9522	c.9289T>C	c.(9289-9291)Tgt>Cgt	p.C3097R	BRCA2_ENST00000544455.1_Missense_Mutation_p.C3097R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3097					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTCAGACGAATGTTACAATTT	0.353			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(9289-9291)Tgt>Cgt	Homologous recombination	breast cancer 2, early onset							72.0	71.0	71.0					13																	32968858		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32968858T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9289T>C	13.37:g.32968858T>C	ENSP00000369497:p.Cys3097Arg	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.C3097R	p.C3097R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	25	9516	+		Lung SC(185;0.0262)	3097					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.9289T>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	6.451	0.451382	0.12223	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.81579	-1.51;-1.51	5.9	2.01	0.26516	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 3 (1);	0.621296	0.19246	N	0.119048	T	0.80053	0.4553	M	0.72479	2.2	0.24160	N	0.995665	D	0.57899	0.981	P	0.51806	0.68	T	0.70296	-0.4911	10	0.52906	T	0.07	.	2.3553	0.04294	0.3894:0.0716:0.1223:0.4166	.	3097	P51587	BRCA2_HUMAN	R	3097	ENSP00000369497:C3097R;ENSP00000439902:C3097R	ENSP00000369497:C3097R	C	+	1	0	BRCA2	31866858	0.877000	0.30153	0.338000	0.25549	0.199000	0.23934	0.403000	0.20982	0.112000	0.17975	0.460000	0.39030	TGT		0.353	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		39	76	0	0	0	1	0	39	76				
RAPH1	65059	broad.mit.edu	37	2	204354775	204354775	+	Silent	SNP	G	G	A			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr2:204354775G>A	ENST00000319170.5	-	4	563	c.264C>T	c.(262-264)gcC>gcT	p.A88A	RAPH1_ENST00000374488.2_Silent_p.A88A|RAPH1_ENST00000308091.4_Silent_p.A88A|RAPH1_ENST00000418114.1_Silent_p.A88A|RAPH1_ENST00000453034.1_Silent_p.A88A|RAPH1_ENST00000374489.2_Silent_p.A88A|RAPH1_ENST00000439222.1_Silent_p.A88A|RAPH1_ENST00000423104.1_Silent_p.A88A|RAPH1_ENST00000374493.3_Silent_p.A88A|RAPH1_ENST00000457812.1_Silent_p.A88A|RAPH1_ENST00000419464.1_Silent_p.A88A	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	88					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGCCATCAAGGCATCCAGAT	0.393																																						ENST00000319170.5																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(262-264)gcC>gcT		Ras association (RalGDS/AF-6) and pleckstrin homology domains 1							120.0	117.0	118.0					2																	204354775		2203	4299	6502	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204354775G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.264C>T	2.37:g.204354775G>A						RAPH1_ENST00000374488.2_Silent_p.A88A|RAPH1_ENST00000374493.3_Silent_p.A88A|RAPH1_ENST00000308091.4_Silent_p.A88A|RAPH1_ENST00000439222.1_Silent_p.A88A|RAPH1_ENST00000457812.1_Silent_p.A88A|RAPH1_ENST00000453034.1_Silent_p.A88A|RAPH1_ENST00000419464.1_Silent_p.A88A|RAPH1_ENST00000418114.1_Silent_p.A88A|RAPH1_ENST00000374489.2_Silent_p.A88A|RAPH1_ENST00000423104.1_Silent_p.A88A	p.A88A	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN			4	563	-			88					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.264C>T	CCDS2359.1																																																																																				0.393	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		4	111	0	0	0	1	0	4	111				
ZNF77	58492	broad.mit.edu	37	19	2936578	2936578	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr19:2936578T>G	ENST00000314531.4	-	3	347	c.255A>C	c.(253-255)gaA>gaC	p.E85D	ZNF77_ENST00000588050.1_5'Flank	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCCAATTTTCTCCAAAAA	0.468																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(253-255)gaA>gaC		zinc finger protein 77							83.0	86.0	85.0					19																	2936578		2203	4300	6503	SO:0001583	missense	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2936578T>G	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.255A>C	19.37:g.2936578T>G	ENSP00000319053:p.Glu85Asp						p.E85D	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	3	347	-			85			KRAB.		Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	c.255A>C	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	T	6.760	0.509122	0.12883	.	.	ENSG00000175691	ENST00000314531	T	0.09073	3.02	2.52	0.228	0.15364	Krueppel-associated box (1);	.	.	.	.	T	0.04137	0.0115	N	0.19112	0.55	0.09310	N	1	B	0.27498	0.18	B	0.14578	0.011	T	0.40997	-0.9533	9	0.38643	T	0.18	.	2.0317	0.03530	0.26:0.1566:0.0:0.5834	.	85	Q15935	ZNF77_HUMAN	D	85	ENSP00000319053:E85D	ENSP00000319053:E85D	E	-	3	2	ZNF77	2887578	0.004000	0.15560	0.000000	0.03702	0.007000	0.05969	0.166000	0.16583	-0.029000	0.13827	-0.604000	0.04097	GAA		0.468	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		25	46	0	0	0	1	0	25	46				
IHH	3549	broad.mit.edu	37	2	219924911	219924911	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr2:219924911G>C	ENST00000295731.6	-	1	278	c.279C>G	c.(277-279)gaC>gaG	p.D93E	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	93					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTTCTCCTCGTCCTTGAAGA	0.657																																						ENST00000295731.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(277-279)gaC>gaG		indian hedgehog							63.0	63.0	63.0					2																	219924911		2203	4300	6503	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219924911G>C	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.279C>G	2.37:g.219924911G>C	ENSP00000295731:p.Asp93Glu						p.D93E	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	278	-		Renal(207;0.0915)	93					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.279C>G	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674368	0.67928	.	.	ENSG00000163501	ENST00000295731	D	0.99571	-6.19	4.22	3.32	0.38043	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.054006	0.64402	N	0.000001	D	0.99468	0.9811	M	0.91818	3.245	0.45554	D	0.998505	D	0.61697	0.99	P	0.56216	0.794	D	0.98905	1.0778	10	0.87932	D	0	-10.2086	9.8323	0.40950	0.0:0.1513:0.6925:0.1562	.	93	Q14623	IHH_HUMAN	E	93	ENSP00000295731:D93E	ENSP00000295731:D93E	D	-	3	2	IHH	219633155	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.802000	0.27069	0.944000	0.37579	0.555000	0.69702	GAC		0.657	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		22	72	0	0	0	1	0	22	72				
NUDCD2	134492	broad.mit.edu	37	5	162886940	162886940	+	Silent	SNP	G	G	T	rs141206788		TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr5:162886940G>T	ENST00000302764.4	-	1	206	c.117C>A	c.(115-117)cgC>cgA	p.R39R	HMMR_ENST00000358715.3_5'Flank|HMMR_ENST00000353866.3_5'Flank|NUDCD2_ENST00000517501.1_Silent_p.R39R|HMMR_ENST00000432118.2_5'Flank|HMMR_ENST00000393915.4_5'Flank|NUDCD2_ENST00000519395.1_5'Flank	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	39	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TATCCTGGGCGCGCGTGCCTG	0.672																																						ENST00000302764.4																			0				large_intestine(1)|prostate(1)	2						c.(115-117)cgC>cgA		NudC domain containing 2							56.0	70.0	65.0					5																	162886940		2202	4300	6502	SO:0001819	synonymous_variant	134492					intracellular		g.chr5:162886940G>T	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.117C>A	5.37:g.162886940G>T						NUDCD2_ENST00000517501.1_Silent_p.R39R	p.R39R	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)	1	206	-	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	39			CS.		B2R4V0	Silent	SNP	ENST00000302764.4	37	c.117C>A	CCDS4361.1																																																																																				0.672	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		57	82	1	0	1.74971e-23	1	1.91635e-23	57	82				
IFITM3	10410	broad.mit.edu	37	11	320649	320649	+	Silent	SNP	G	G	A	rs11553885	byFrequency	TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr11:320649G>A	ENST00000399808.4	-	1	401	c.165C>T	c.(163-165)ccC>ccT	p.P55P	RP11-326C3.14_ENST00000602809.1_lincRNA|IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.11_ENST00000602429.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	55					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P55P(5)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGACATGGTCGGGCACGGAGG	0.637																																						ENST00000399808.4																			5	Substitution - coding silent(5)	p.P55P(5)	endometrium(4)|central_nervous_system(1)	central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18						c.(163-165)ccC>ccT		interferon induced transmembrane protein 3							93.0	98.0	96.0					11																	320649		2062	4173	6235	SO:0001819	synonymous_variant	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:320649G>A	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.165C>T	11.37:g.320649G>A						RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Silent_p.P34P	p.P55P	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	401	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	55					Q53Y76|Q96HK8|Q96J15	Silent	SNP	ENST00000399808.4	37	c.165C>T	CCDS41585.1																																																																																				0.637	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		9	108	0	0	0	1	0	9	108				
SCYL2	55681	broad.mit.edu	37	12	100722992	100722992	+	Silent	SNP	T	T	C			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr12:100722992T>C	ENST00000360820.2	+	13	2093	c.1656T>C	c.(1654-1656)tgT>tgC	p.C552C		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	552					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TTTACAAATGTACTTTTACTC	0.313																																						ENST00000360820.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						c.(1654-1656)tgT>tgC		SCY1-like 2 (S. cerevisiae)							54.0	57.0	56.0					12																	100722992		2203	4299	6502	SO:0001819	synonymous_variant	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100722992T>C	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1656T>C	12.37:g.100722992T>C							p.C552C	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN			13	2093	+			552					A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	c.1656T>C	CCDS9076.1																																																																																				0.313	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		4	58	0	0	0	1	0	4	58				
NUDCD2	134492	broad.mit.edu	37	5	162886941	162886941	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr5:162886941C>T	ENST00000302764.4	-	1	205	c.116G>A	c.(115-117)cGc>cAc	p.R39H	HMMR_ENST00000358715.3_5'Flank|HMMR_ENST00000353866.3_5'Flank|NUDCD2_ENST00000517501.1_Missense_Mutation_p.R39H|HMMR_ENST00000432118.2_5'Flank|HMMR_ENST00000393915.4_5'Flank|NUDCD2_ENST00000519395.1_5'Flank	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	39	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		ATCCTGGGCGCGCGTGCCTGG	0.672																																						ENST00000302764.4																			0				large_intestine(1)|prostate(1)	2						c.(115-117)cGc>cAc		NudC domain containing 2							57.0	70.0	66.0					5																	162886941		2202	4300	6502	SO:0001583	missense	134492					intracellular		g.chr5:162886941C>T	BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.116G>A	5.37:g.162886941C>T	ENSP00000304854:p.Arg39His					NUDCD2_ENST00000517501.1_Missense_Mutation_p.R39H	p.R39H	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)	1	205	-	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	39			CS.		B2R4V0	Missense_Mutation	SNP	ENST00000302764.4	37	c.116G>A	CCDS4361.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029188	0.35797	.	.	ENSG00000170584	ENST00000302764;ENST00000517501	T;T	0.14516	2.5;2.5	5.94	5.07	0.68467	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.219555	0.48286	D	0.000195	T	0.16085	0.0387	L	0.53561	1.675	0.30303	N	0.789241	B	0.23937	0.094	B	0.10450	0.005	T	0.05131	-1.0904	10	0.72032	D	0.01	-16.82	14.1737	0.65527	0.2727:0.7273:0.0:0.0	.	39	Q8WVJ2	NUDC2_HUMAN	H	39	ENSP00000304854:R39H;ENSP00000430347:R39H	ENSP00000304854:R39H	R	-	2	0	NUDCD2	162819519	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	4.768000	0.62293	1.502000	0.48669	-0.188000	0.12872	CGC		0.672	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252747.3	NM_145266		56	81	0	0	0	1	0	56	81				
MLLT6	4302	broad.mit.edu	37	17	36873756	36873756	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr17:36873756C>T	ENST00000325718.7	+	11	1814	c.1723C>T	c.(1723-1725)Ctc>Ttc	p.L575F	MIR4726_ENST00000577947.1_RNA|CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	575					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGCACCCCTCTCTCCTCCAG	0.657			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		0				breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1723-1725)Ctc>Ttc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							47.0	50.0	49.0					17																	36873756		2203	4299	6502	SO:0001583	missense	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36873756C>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1723C>T	17.37:g.36873756C>T	ENSP00000316426:p.Leu575Phe					CTB-58E17.9_ENST00000579499.1_RNA	p.L575F	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN			11	1814	+	Breast(7;4.43e-21)		575					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	ENST00000325718.7	37	c.1723C>T	CCDS11327.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662992	0.88251	.	.	ENSG00000108292	ENST00000325718	T	0.13657	2.57	4.93	4.93	0.64822	.	0.158384	0.43110	D	0.000606	T	0.34978	0.0916	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.991	T	0.04005	-1.0985	10	0.72032	D	0.01	.	16.8774	0.86055	0.0:1.0:0.0:0.0	.	29;575	Q96I32;P55198	.;AF17_HUMAN	F	575	ENSP00000316426:L575F	ENSP00000316426:L575F	L	+	1	0	MLLT6	34127282	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	4.712000	0.61888	2.561000	0.86390	0.563000	0.77884	CTC		0.657	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		25	61	0	0	0	1	0	25	61				
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr10:37430948C>G	ENST00000602533.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(955-957)Cca>Gca		ankyrin repeat domain 30A							102.0	101.0	102.0					10																	37430948		1856	4094	5950	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430948C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.955C>G	10.37:g.37430948C>G	ENSP00000473551:p.Pro319Ala					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A	p.P319A			Q9BXX3	AN30A_HUMAN			7	1054	+			375					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.955C>G		.	.	.	.	.	.	.	.	.	.	.	0	-2.634296	0.00114	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.41400	1.17;1.0	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.45577	0.1349	L	0.40543	1.245	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.39292	-0.9621	8	0.15066	T	0.55	.	.	.	.	.	375	Q9BXX3	AN30A_HUMAN	A	319	ENSP00000354432:P319A;ENSP00000363792:P319A	ENSP00000354432:P319A	P	+	1	0	ANKRD30A	37470954	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	1.228000	0.32588	0.132000	0.18615	0.134000	0.15878	CCA		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		4	124	0	0	0	1	0	4	124				
ETV7	51513	broad.mit.edu	37	6	36343733	36343733	+	Silent	SNP	G	G	A			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr6:36343733G>A	ENST00000340181.4	-	3	463	c.222C>T	c.(220-222)tgC>tgT	p.C74C	ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373738.1_Intron|ETV7_ENST00000373737.4_Silent_p.C74C|ETV7_ENST00000339796.5_Silent_p.C74C	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	74	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GCTCCGCGGTGCATGGCAGAG	0.652																																						ENST00000339796.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(220-222)tgC>tgT		ets variant 7							96.0	77.0	83.0					6																	36343733		2203	4300	6503	SO:0001819	synonymous_variant	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36343733G>A	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.222C>T	6.37:g.36343733G>A						ETV7_ENST00000340181.4_Silent_p.C74C|ETV7_ENST00000373737.4_Silent_p.C74C|ETV7_ENST00000373738.1_Intron|ETV7_ENST00000538992.1_Intron	p.C74C	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN			3	1067	-			74			PNT.		B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Silent	SNP	ENST00000340181.4	37	c.222C>T	CCDS4819.1																																																																																				0.652	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		22	33	0	0	0	1	0	22	33				
MTFR1	9650	broad.mit.edu	37	8	66617057	66617057	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr8:66617057A>G	ENST00000262146.4	+	5	536	c.410A>G	c.(409-411)aAt>aGt	p.N137S	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.N104S	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	137					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GCGCTGGCAAATGAGGAAGCA	0.493																																						ENST00000262146.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11						c.(409-411)aAt>aGt		mitochondrial fission regulator 1							50.0	51.0	50.0					8																	66617057		2203	4300	6503	SO:0001583	missense	9650					mitochondrion|plasma membrane		g.chr8:66617057A>G		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.410A>G	8.37:g.66617057A>G	ENSP00000262146:p.Asn137Ser					MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.N104S	p.N137S	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		5	536	+			137					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	ENST00000262146.4	37	c.410A>G	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.38|10.38	1.334842|1.334842	0.24253|0.24253	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000518800|ENST00000518609;ENST00000262146;ENST00000458689	.|T;T	.|0.43688	.|0.94;0.94	5.39|5.39	3.04|3.04	0.35103|0.35103	.|.	.|0.232106	.|0.49916	.|N	.|0.000124	T|T	0.39306|0.39306	0.1073|0.1073	L|L	0.33245|0.33245	0.995|0.995	0.40849|0.40849	D|D	0.983738|0.983738	.|B;B;D;B	.|0.53312	.|0.289;0.156;0.959;0.153	.|B;B;P;B	.|0.52823	.|0.344;0.158;0.71;0.151	T|T	0.09314|0.09314	-1.0680|-1.0680	5|10	.|0.29301	.|T	.|0.29	-18.2132|-18.2132	8.8586|8.8586	0.35242|0.35242	0.8456:0.0:0.1544:0.0|0.8456:0.0:0.1544:0.0	.|.	.|137;121;104;137	.|B4E3G8;E5RJS5;E7EP84;Q15390	.|.;.;.;MTFR1_HUMAN	V|S	95|121;137;104	.|ENSP00000262146:N137S;ENSP00000391502:N104S	.|ENSP00000262146:N137S	M|N	+|+	1|2	0|0	MTFR1|MTFR1	66779611|66779611	0.998000|0.998000	0.40836|0.40836	0.020000|0.020000	0.16555|0.16555	0.299000|0.299000	0.27559|0.27559	3.773000|3.773000	0.55333|0.55333	0.372000|0.372000	0.24591|0.24591	0.460000|0.460000	0.39030|0.39030	ATG|AAT		0.493	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		38	34	0	0	0	1	0	38	34				
PRUNE2	158471	broad.mit.edu	37	9	79322065	79322065	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr9:79322065C>T	ENST00000376718.3	-	8	5248	c.5125G>A	c.(5125-5127)Gtt>Att	p.V1709I	PRUNE2_ENST00000428286.1_Missense_Mutation_p.V1350I	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1709					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCTCAGCAACGTGGCAGTTG	0.443																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(4048-4050)Gtt>Att		prune homolog 2 (Drosophila)							97.0	82.0	86.0					9																	79322065		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322065C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5125G>A	9.37:g.79322065C>T	ENSP00000365908:p.Val1709Ile					PRUNE2_ENST00000376718.3_Missense_Mutation_p.V1709I	p.V1350I			Q8WUY3	PRUN2_HUMAN			8	5248	-			1709					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.4048G>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.066|0.066	-1.213072|-1.213072	0.01555|0.01555	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.46819	.|0.86;0.86	5.56|5.56	2.72|2.72	0.32119|0.32119	.|.	.|1.236560	.|0.05826	.|N	.|0.616587	T|T	0.27594|0.27594	0.0678|0.0678	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.06405	.|0.002	T|T	0.23976|0.23976	-1.0173|-1.0173	5|10	.|0.09338	.|T	.|0.73	0.3567|0.3567	3.7712|3.7712	0.08642|0.08642	0.1356:0.588:0.131:0.1455|0.1356:0.588:0.131:0.1455	.|.	.|1709	.|Q8WUY3	.|PRUN2_HUMAN	H|I	1030|1709;1350;1708	.|ENSP00000365908:V1709I;ENSP00000397425:V1350I	.|ENSP00000365908:V1709I	R|V	-|-	2|1	0|0	PRUNE2|PRUNE2	78511885|78511885	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.010000|0.010000	0.07245|0.07245	0.591000|0.591000	0.23969|0.23969	0.302000|0.302000	0.22762|0.22762	-0.739000|-0.739000	0.03532|0.03532	CGT|GTT		0.443	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		28	32	0	0	0	1	0	28	32				
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr1:154842199_154842200insGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGC	c.(241-243)cca>cAGCca	p.80_81insQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(241-243)acc>AGCacc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001652	inframe_insertion	3782					integral to membrane	calmodulin binding	g.chr1:154842199_154842200insGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.239_241dupAGC	1.37:g.154842206_154842208dupGCT	ENSP00000271915:p.Gln80_Gln80dup						p.80_81insS	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	556_557	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	c.241_242insAGC	CCDS30880.1																																																																																				0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		3	4						3	4	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910744	2910744	+	lincRNA	DEL	C	C	-			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr2:2910744delC	ENST00000457478.1	-	0	594																											cagccactcacccctacacct	0.692																																						ENST00000457478.1																			0																																																			101927554							g.chr2:2910744delC																													2.37:g.2910744delC														0	594	-									RNA	DEL	ENST00000457478.1	37																																																																																						0.692	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			2	4						2	4	---	---	---	---
CAMK2B	816	broad.mit.edu	37	7	44273998	44273998	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr7:44273998delA	ENST00000395749.2	-	15	1198	c.1122delT	c.(1120-1122)cctfs	p.P374fs	CAMK2B_ENST00000358707.3_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000502837.2_Frame_Shift_Del_p.P245fs|CAMK2B_ENST00000440254.2_Frame_Shift_Del_p.P374fs|CAMK2B_ENST00000350811.3_Frame_Shift_Del_p.P374fs|CAMK2B_ENST00000258682.6_Frame_Shift_Del_p.P349fs|CAMK2B_ENST00000457475.1_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000395747.2_Frame_Shift_Del_p.P350fs	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	374					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CCAGGGCGGCAGGAGGAAGCG	0.617																																						ENST00000395749.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						c.(1120-1122)ccfs		calcium/calmodulin-dependent protein kinase II beta							99.0	88.0	92.0					7																	44273998		2201	4293	6494	SO:0001589	frameshift_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44273998delA	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1122delT	7.37:g.44273998delA	ENSP00000379098:p.Pro374fs					CAMK2B_ENST00000502837.2_Frame_Shift_Del_p.P245fs|CAMK2B_ENST00000457475.1_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000258682.6_Frame_Shift_Del_p.P349fs|CAMK2B_ENST00000440254.2_Frame_Shift_Del_p.P374fs|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000395747.2_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000358707.3_Frame_Shift_Del_p.P350fs|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000350811.3_Frame_Shift_Del_p.P374fs|CAMK2B_ENST00000347193.4_Intron	p.P374fs	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN			15	1198	-			374					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Frame_Shift_Del	DEL	ENST00000395749.2	37	c.1122delT	CCDS5483.1																																																																																				0.617	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		2	4						2	4	---	---	---	---
HNRNPUL2	221092	broad.mit.edu	37	11	62488846	62488846	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chr11:62488846delA	ENST00000301785.5	-	9	1724	c.1532delT	c.(1531-1533)ttafs	p.L511fs	HNRNPUL2-BSCL2_ENST00000403734.2_Frame_Shift_Del_p.L511fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	511						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGCTGAACTAAAAGGTCTCG	0.413																																						ENST00000301785.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1531-1533)tafs		heterogeneous nuclear ribonucleoprotein U-like 2							172.0	178.0	176.0					11																	62488846		1856	4094	5950	SO:0001589	frameshift_variant	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62488846delA		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1532delT	11.37:g.62488846delA	ENSP00000301785:p.Leu511fs					RP11-831H9.16_ENST00000403734.2_Frame_Shift_Del_p.L511fs	p.L511fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN			9	1724	-			511					Q8N3B3	Frame_Shift_Del	DEL	ENST00000301785.5	37	c.1532delT	CCDS41659.1																																																																																				0.413	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		77	144						77	144	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-QR-A70H-01A-12D-A35D-08	TCGA-QR-A70H-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbafc85e-deff-46cd-a40f-479b9dc92a60	31c6fa50-200a-46c1-a546-61b52592fd8f	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		3	5						3	5	---	---	---	---
