#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
LRP1B	53353	broad.mit.edu	37	2	141259355	141259355	+	Silent	SNP	G	G	A	rs148504930		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr2:141259355G>A	ENST00000389484.3	-	55	9722	c.8751C>T	c.(8749-8751)ggC>ggT	p.G2917G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2917	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G2917G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGAACCATCGCCACAGTCAT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - coding silent(1)	p.G2917G(1)	prostate(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8749-8751)ggC>ggT		low density lipoprotein receptor-related protein 1B		G		0,4406		0,0,2203	104.0	103.0	103.0		8751	-9.0	0.8	2	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1B	NM_018557.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2917/4600	141259355	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141259355G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8751C>T	2.37:g.141259355G>A		TSP Lung(27;0.18)					p.G2917G	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	55	9722	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2917			LDL-receptor class A 20.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.8751C>T	CCDS2182.1																																																																																				0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	103	0	0	0	1	0	6	103				
PCDHB14	56122	broad.mit.edu	37	5	140605445	140605445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr5:140605445C>T	ENST00000239449.4	+	1	2368	c.2368C>T	c.(2368-2370)Cga>Tga	p.R790*	PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.R637*	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	790					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R790*(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGAACTTTCGAAATAGCTT	0.343																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			2	Substitution - Nonsense(2)	p.R790*(2)	large_intestine(1)|prostate(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(2368-2370)Cga>Tga									66.0	73.0	71.0					5																	140605445		2203	4300	6503	SO:0001587	stop_gained	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140605445C>T	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.2368C>T	5.37:g.140605445C>T	ENSP00000239449:p.Arg790*					PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.R637*	p.R790*	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2368	+			790					B4DPE2|Q4FZA4|Q4KN11	Nonsense_Mutation	SNP	ENST00000239449.4	37	c.2368C>T	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	19.03	3.748491	0.69533	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	.	.	.	4.07	-0.837	0.10766	.	.	.	.	.	.	.	.	.	.	.	0.31292	N	0.689291	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2849	0.37751	0.2957:0.5843:0.12:0.0	.	.	.	.	X	637;790	.	ENSP00000239449:R790X	R	+	1	2	PCDHB14	140585629	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-1.168000	0.03123	-0.071000	0.12886	0.585000	0.79938	CGA		0.343	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		13	130	0	0	0	1	0	13	130				
FZD10	11211	broad.mit.edu	37	12	130647553	130647553	+	Missense_Mutation	SNP	C	C	A	rs200800452		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr12:130647553C>A	ENST00000229030.4	+	1	550	c.66C>A	c.(64-66)agC>agA	p.S22R	FZD10_ENST00000539839.1_5'UTR|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	22					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S22R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGCCATCAGCTCCATGGACA	0.667																																						ENST00000229030.4																			2	Substitution - Missense(2)	p.S22R(2)	prostate(1)|lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(64-66)agC>agA		frizzled family receptor 10							11.0	11.0	11.0					12																	130647553		2191	4283	6474	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647553C>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.66C>A	12.37:g.130647553C>A	ENSP00000229030:p.Ser22Arg					FZD10_ENST00000539839.1_5'UTR	p.S22R			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	550	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		22						Missense_Mutation	SNP	ENST00000229030.4	37	c.66C>A	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386995	0.25031	.	.	ENSG00000111432	ENST00000229030	T	0.76968	-1.06	3.43	-0.743	0.11105	.	1.117550	0.07024	U	0.827300	T	0.63698	0.2533	L	0.27053	0.805	0.50813	D	0.999897	B	0.10296	0.003	B	0.04013	0.001	T	0.44711	-0.9310	10	0.25106	T	0.35	.	8.7037	0.34340	0.0:0.6722:0.0:0.3278	.	22	Q9ULW2	FZD10_HUMAN	R	22	ENSP00000229030:S22R	ENSP00000229030:S22R	S	+	3	2	FZD10	129213506	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.073000	0.41519	-0.099000	0.12263	0.561000	0.74099	AGC		0.667	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	11	1	0	1	1	1	4	11				
OR7A17	26333	broad.mit.edu	37	19	14991753	14991753	+	Missense_Mutation	SNP	G	G	A	rs375822511		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr19:14991753G>A	ENST00000327462.2	-	1	511	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139W(1)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CCACAGAGCCGAGGGTTCATG	0.498																																						ENST00000327462.2																			1	Substitution - Missense(1)	p.R139W(1)	prostate(1)	breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(415-417)Cgg>Tgg		olfactory receptor, family 7, subfamily A, member 17		G	TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	112.0	108.0	109.0		415	-6.6	0.0	19		109	0,8600		0,0,4300	no	missense	OR7A17	NM_030901.1	101	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	benign	139/310	14991753	5,13001	2203	4300	6503	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991753G>A	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.415C>T	19.37:g.14991753G>A	ENSP00000328144:p.Arg139Trp						p.R139W	NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN			1	511	-	Ovarian(108;0.203)		139					Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.415C>T	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	g	7.931	0.740668	0.15642	0.001135	0.0	ENSG00000185385	ENST00000327462	T	0.42900	0.96	3.3	-6.6	0.01824	GPCR, rhodopsin-like superfamily (1);	0.225743	0.19321	U	0.117126	T	0.25865	0.0630	L	0.53561	1.675	0.09310	N	1	B	0.16166	0.016	B	0.23275	0.045	T	0.14008	-1.0488	10	0.35671	T	0.21	.	1.8301	0.03128	0.1736:0.1113:0.277:0.438	.	139	O14581	OR7AH_HUMAN	W	139	ENSP00000328144:R139W	ENSP00000328144:R139W	R	-	1	2	OR7A17	14852753	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-2.348000	0.01094	-1.428000	0.01989	-0.883000	0.02948	CGG		0.498	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		14	135	0	0	0	1	0	14	135				
UACA	55075	broad.mit.edu	37	15	70959403	70959403	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr15:70959403T>A	ENST00000322954.6	-	16	3805	c.3620A>T	c.(3619-3621)gAg>gTg	p.E1207V	UACA_ENST00000560441.1_Missense_Mutation_p.E1192V|UACA_ENST00000379983.2_Missense_Mutation_p.E1194V|UACA_ENST00000539319.1_Missense_Mutation_p.E1098V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1207					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTCTGAACCTCCGACTGAAG	0.348																																						ENST00000322954.6																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(3619-3621)gAg>gTg		uveal autoantigen with coiled-coil domains and ankyrin repeats							112.0	108.0	109.0					15																	70959403		2199	4297	6496	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70959403T>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3620A>T	15.37:g.70959403T>A	ENSP00000314556:p.Glu1207Val					UACA_ENST00000560441.1_Missense_Mutation_p.E1192V|UACA_ENST00000539319.1_Missense_Mutation_p.E1098V|UACA_ENST00000379983.2_Missense_Mutation_p.E1194V	p.E1207V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	3805	-			1207					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.3620A>T	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.640752	0.67244	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.42513	0.97;0.97;1.44	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000006	T	0.62841	0.2461	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.986;0.959;0.959;0.999	T	0.66716	-0.5853	10	0.72032	D	0.01	-31.0371	11.0137	0.47677	0.0:0.0722:0.0:0.9278	.	1098;1207;1207;1194	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	1207;1194;1098	ENSP00000314556:E1207V;ENSP00000369319:E1194V;ENSP00000438667:E1098V	ENSP00000314556:E1207V	E	-	2	0	UACA	68746457	1.000000	0.71417	0.853000	0.33588	0.970000	0.65996	4.568000	0.60857	2.153000	0.67306	0.533000	0.62120	GAG		0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			6	262	0	0	0	1	0	6	262				
ZNF423	23090	broad.mit.edu	37	16	49660162	49660162	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr16:49660162T>C	ENST00000561648.1	-	5	3549	c.3496A>G	c.(3496-3498)Aag>Gag	p.K1166E	ZNF423_ENST00000535559.1_Missense_Mutation_p.K1049E|ZNF423_ENST00000567169.1_Missense_Mutation_p.K1049E|ZNF423_ENST00000562871.1_Missense_Mutation_p.K1106E|ZNF423_ENST00000563137.2_Missense_Mutation_p.K1106E|ZNF423_ENST00000562520.1_Missense_Mutation_p.K1106E|ZNF423_ENST00000262383.2_Missense_Mutation_p.K1166E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1166					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGTATGTCTTTTTCTGTTTG	0.448																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3496-3498)Aag>Gag		zinc finger protein 423							238.0	213.0	221.0					16																	49660162		2199	4300	6499	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49660162T>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3496A>G	16.37:g.49660162T>C	ENSP00000455426:p.Lys1166Glu					ZNF423_ENST00000562871.1_Missense_Mutation_p.K1106E|ZNF423_ENST00000562520.1_Missense_Mutation_p.K1106E|ZNF423_ENST00000567169.1_Missense_Mutation_p.K1049E|ZNF423_ENST00000262383.2_Missense_Mutation_p.K1166E|ZNF423_ENST00000535559.1_Missense_Mutation_p.K1049E|ZNF423_ENST00000563137.2_Missense_Mutation_p.K1106E	p.K1166E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			5	3549	-		all_cancers(37;0.0155)	1166					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3496A>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299102	0.81025	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.39056	1.1;1.1	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.52092	0.1713	L	0.34521	1.04	0.48975	D	0.99973	D	0.69078	0.997	D	0.81914	0.995	T	0.48801	-0.9003	9	.	.	.	-17.3382	14.7046	0.69179	0.0:0.0:0.0:1.0	.	1166	Q2M1K9	ZN423_HUMAN	E	1166;1049	ENSP00000262383:K1166E;ENSP00000442321:K1049E	.	K	-	1	0	ZNF423	48217663	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.648000	0.83479	1.943000	0.56356	0.254000	0.18369	AAG		0.448	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		6	306	0	0	0	1	0	6	306				
ACBD7	414149	broad.mit.edu	37	10	15120540	15120540	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr10:15120540A>C	ENST00000356189.5	-	4	303	c.256T>G	c.(256-258)Tac>Gac	p.Y86D	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	86	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.Y86D(1)		endometrium(1)|lung(4)|prostate(1)	6						TAAATTCCGTATTTTTCTATC	0.393																																						ENST00000356189.5																			1	Substitution - Missense(1)	p.Y86D(1)	prostate(1)	endometrium(1)|lung(4)|prostate(1)	6						c.(256-258)Tac>Gac		acyl-CoA binding domain containing 7							142.0	149.0	147.0					10																	15120540		2203	4300	6503	SO:0001583	missense	414149						fatty-acyl-CoA binding	g.chr10:15120540A>C	AK095538	CCDS31153.1	10p13	2010-08-05	2010-04-30		ENSG00000176244	ENSG00000176244			17715	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 7"""				Standard	NM_001039844		Approved	FLJ38219, bA455B2.2	uc010qby.1	Q8N6N7	OTTHUMG00000017725	ENST00000356189.5:c.256T>G	10.37:g.15120540A>C	ENSP00000367453:p.Tyr86Asp					ACBD7_ENST00000496890.1_5'UTR	p.Y86D	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN			4	303	-			86			ACB.		A6NCI2|B3KTG8	Missense_Mutation	SNP	ENST00000356189.5	37	c.256T>G	CCDS31153.1	.	.	.	.	.	.	.	.	.	.	a	12.71	2.019271	0.35606	.	.	ENSG00000176244	ENST00000356189	T	0.19250	2.16	4.72	3.57	0.40892	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (3);	0.069679	0.64402	N	0.000016	T	0.21307	0.0513	.	.	.	0.53005	D	0.999961	B	0.27700	0.186	B	0.32724	0.151	T	0.04607	-1.0939	9	0.87932	D	0	-21.5336	10.5031	0.44817	0.8378:0.1622:0.0:0.0	.	86	Q8N6N7	ACBD7_HUMAN	D	86	ENSP00000367453:Y86D	ENSP00000367453:Y86D	Y	-	1	0	ACBD7	15160546	1.000000	0.71417	0.996000	0.52242	0.608000	0.37181	3.627000	0.54252	0.813000	0.34350	0.459000	0.35465	TAC		0.393	ACBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046972.2			20	212	0	0	0	1	0	20	212				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	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		4	52	0	0	0	1	0	4	52				
NEFM	4741	broad.mit.edu	37	8	24775449	24775449	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:24775449C>A	ENST00000221166.5	+	3	2863	c.2081C>A	c.(2080-2082)gCa>gAa	p.A694E	NEFM_ENST00000433454.2_Missense_Mutation_p.A318E|NEFM_ENST00000437366.2_Missense_Mutation_p.A655E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	694	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		aagtcaaaagcagaagtgggg	0.448																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(2080-2082)gCa>gAa		neurofilament, medium polypeptide							55.0	61.0	59.0					8																	24775449		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775449C>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2081C>A	8.37:g.24775449C>A	ENSP00000221166:p.Ala694Glu					NEFM_ENST00000437366.2_Missense_Mutation_p.A655E|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.A318E|NEFM_ENST00000518131.1_Intron	p.A694E			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2863	+		Prostate(55;0.157)	694			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2081C>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	C	0.449	-0.894695	0.02491	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.94000	-1.75;-1.71;-3.33	3.31	1.27	0.21489	.	1.034630	0.07695	N	0.939325	D	0.87164	0.6109	L	0.39898	1.24	0.21897	N	0.99949	B	0.06786	0.001	B	0.01281	0.0	T	0.69745	-0.5062	10	0.08837	T	0.75	.	5.5964	0.17329	0.3864:0.5152:0.0:0.0985	.	694	P07197	NFM_HUMAN	E	694;655;318	ENSP00000221166:A694E;ENSP00000410137:A655E;ENSP00000412295:A318E	ENSP00000221166:A694E	A	+	2	0	NEFM	24831354	0.001000	0.12720	0.001000	0.08648	0.559000	0.35586	0.288000	0.18939	-0.005000	0.14395	0.205000	0.17691	GCA		0.448	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		3	55	1	0	0.115264	1	0.128824	3	55				
CLVS1	157807	broad.mit.edu	37	8	62212651	62212651	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:62212651G>T	ENST00000519846.1	+	3	737	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.D89Y|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	89					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.D89Y(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCACCAAGCGGATGCCTTTAG	0.483																																						ENST00000519846.1																			1	Substitution - Missense(1)	p.D89Y(1)	prostate(1)	endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(265-267)Gat>Tat		clavesin 1							92.0	82.0	85.0					8																	62212651		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212651G>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.265G>T	8.37:g.62212651G>T	ENSP00000428402:p.Asp89Tyr					CLVS1_ENST00000325897.4_Missense_Mutation_p.D89Y|CLVS1_ENST00000518592.1_Intron	p.D89Y			Q8IUQ0	CLVS1_HUMAN			3	737	+			89					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.265G>T	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402229	0.83230	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.86297	-2.1;-2.1	5.79	4.92	0.64577	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.104606	0.64402	D	0.000005	D	0.88654	0.6495	L	0.38175	1.15	0.51767	D	0.999932	P;D	0.58970	0.917;0.984	P;P	0.61592	0.612;0.891	D	0.87521	0.2446	9	.	.	.	-4.8864	14.6939	0.69107	0.0691:0.0:0.9309:0.0	.	89;89	Q8IUQ0;Q8IUQ0-2	CLVS1_HUMAN;.	Y	89	ENSP00000428402:D89Y;ENSP00000325506:D89Y	.	D	+	1	0	CLVS1	62375205	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	1.466000	0.48025	0.655000	0.94253	GAT		0.483	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		5	91	1	0	0.0215528	1	0.0255939	5	91				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_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		3	21	1	0	2.56e-06	1	3.47429e-06	3	21				
MT-ND4	4538	broad.mit.edu	37	M	11402	11402	+	Nonstop_Mutation	SNP	T	T	C			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chrM:11402T>C	ENST00000361381.2	+	1	643	c.643T>C	c.(643-645)Tga>Cga	p.*215R	MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	215					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						GACTCCACTTATGACTCCCTA	0.443																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(643-645)Tga>Cga		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001578	stop_lost	4538							g.chrM:11402T>C			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.643T>C	M.37:g.11402T>C	Exception_encountered						p.215_215insR							1	643	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.643T>C																																																																																					0.443	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		3	65	0	0	0	1	0	3	65				
OTOF	9381	broad.mit.edu	37	2	26699845	26699845	+	Missense_Mutation	SNP	G	G	A	rs150070091		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr2:26699845G>A	ENST00000272371.2	-	22	2716	c.2590C>T	c.(2590-2592)Cgt>Tgt	p.R864C	OTOF_ENST00000402415.3_Missense_Mutation_p.R174C|OTOF_ENST00000339598.3_Missense_Mutation_p.R117C|OTOF_ENST00000403946.3_Missense_Mutation_p.R864C|OTOF_ENST00000338581.6_Missense_Mutation_p.R117C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	864					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.R864C(1)|p.R117C(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGGCACACGGGCATAGGCG	0.612																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			2	Substitution - Missense(2)	p.R864C(1)|p.R117C(1)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(2590-2592)Cgt>Tgt		otoferlin		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	2,4386	6.2+/-15.9	0,2,2192	72.0	57.0	62.0		349,2590,520,349	3.0	1.0	2	dbSNP_134	62	0,8586		0,0,4293	no	missense,missense,missense,missense	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	180,180,180,180	0,2,6485	AA,AG,GG		0.0,0.0456,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	117/1231,864/1998,174/1308,117/1231	26699845	2,12972	2194	4293	6487	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26699845G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2590C>T	2.37:g.26699845G>A	ENSP00000272371:p.Arg864Cys					OTOF_ENST00000402415.3_Missense_Mutation_p.R174C|OTOF_ENST00000339598.3_Missense_Mutation_p.R117C|OTOF_ENST00000338581.6_Missense_Mutation_p.R117C|OTOF_ENST00000403946.3_Missense_Mutation_p.R864C	p.R864C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			22	2716	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		864					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.2590C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281295	0.80692	4.56E-4	0.0	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	4.89	3.02	0.34903	Ferlin B-domain (1);	0.000000	0.85682	D	0.000000	D	0.91109	0.7201	M	0.92507	3.315	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.997;0.992	P;D;P;D	0.75484	0.714;0.986;0.867;0.969	D	0.91874	0.5510	10	0.87932	D	0	-22.081	13.2612	0.60106	0.0:0.0:0.711:0.289	.	864;117;174;117	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	117;117;174;864;864	ENSP00000345137:R117C;ENSP00000344521:R117C;ENSP00000383906:R174C;ENSP00000272371:R864C;ENSP00000385255:R864C	ENSP00000272371:R864C	R	-	1	0	OTOF	26553349	1.000000	0.71417	0.989000	0.46669	0.887000	0.51463	4.799000	0.62517	0.425000	0.26087	0.498000	0.49722	CGT		0.612	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			6	59	0	0	0	1	0	6	59				
ACAP1	9744	broad.mit.edu	37	17	7240074	7240074	+	Silent	SNP	C	C	T	rs191833549		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:7240074C>T	ENST00000158762.3	+	1	227	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	7	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGCTGGATTTCGAGGAGTGTC	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16021	0.0		0.0	False		,,,				2504	0.0					ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(19-21)ttC>ttT		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1		C		0,4406		0,0,2203	87.0	81.0	83.0		21	-11.1	0.6	17		83	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ACAP1	NM_014716.3		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		7/741	7240074	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7240074C>T	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.21C>T	17.37:g.7240074C>T							p.F7F	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			1	227	+			7			BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Silent	SNP	ENST00000158762.3	37	c.21C>T	CCDS11101.1																																																																																				0.612	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		4	107	0	0	0	1	0	4	107				
USP20	10868	broad.mit.edu	37	9	132641857	132641857	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr9:132641857C>T	ENST00000315480.4	+	24	2676	c.2518C>T	c.(2518-2520)Ccc>Tcc	p.P840S	USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Missense_Mutation_p.P840S|USP20_ENST00000372429.3_Missense_Mutation_p.P840S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	840	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGCAGAGCCCCCCGGGCCCAT	0.662																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(2518-2520)Ccc>Tcc		ubiquitin specific peptidase 20							57.0	66.0	63.0					9																	132641857		2005	4164	6169	SO:0001583	missense	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132641857C>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2518C>T	9.37:g.132641857C>T	ENSP00000313811:p.Pro840Ser					USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Missense_Mutation_p.P840S|USP20_ENST00000372429.3_Missense_Mutation_p.P840S	p.P840S			Q9Y2K6	UBP20_HUMAN			24	2676	+		Ovarian(14;0.00556)	840			DUSP 2.		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.2518C>T	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453740	0.84209	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.26810	1.71;1.71;1.71	5.03	5.03	0.67393	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.114202	0.64402	D	0.000015	T	0.49150	0.1540	H	0.94620	3.56	0.80722	D	1	P	0.45672	0.864	P	0.44359	0.447	T	0.67432	-0.5672	10	0.87932	D	0	.	17.7054	0.88308	0.0:1.0:0.0:0.0	.	840	Q9Y2K6	UBP20_HUMAN	S	840	ENSP00000361506:P840S;ENSP00000313811:P840S;ENSP00000351122:P840S	ENSP00000313811:P840S	P	+	1	0	USP20	131681678	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	7.305000	0.78891	2.498000	0.84270	0.655000	0.94253	CCC		0.662	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			5	81	0	0	0	1	0	5	81				
C2orf78	388960	broad.mit.edu	37	2	74040747	74040747	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr2:74040747C>A	ENST00000409561.1	+	2	362	c.241C>A	c.(241-243)Cag>Aag	p.Q81K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	81	Ser-rich.							p.Q81K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AGCATGGCTACAGCCATCAGC	0.532																																						ENST00000409561.1																			1	Substitution - Missense(1)	p.Q81K(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						c.(241-243)Cag>Aag		chromosome 2 open reading frame 78							53.0	55.0	54.0					2																	74040747		1993	4172	6165	SO:0001583	missense	388960							g.chr2:74040747C>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.241C>A	2.37:g.74040747C>A	ENSP00000387124:p.Gln81Lys						p.Q81K	NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN			2	362	+			81			Ser-rich.			Missense_Mutation	SNP	ENST00000409561.1	37	c.241C>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	7.988	0.752627	0.15778	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.30182	1.54	4.53	1.54	0.23209	.	0.320649	0.16931	U	0.193649	T	0.16727	0.0402	N	0.14661	0.345	0.19945	N	0.999945	B	0.30482	0.281	B	0.30316	0.114	T	0.16748	-1.0392	10	0.87932	D	0	-3.5182	7.1652	0.25687	0.0:0.6795:0.0:0.3205	.	81	A6NCI8	CB078_HUMAN	K	81	ENSP00000387124:Q81K	ENSP00000340692:Q81K	Q	+	1	0	C2orf78	73894255	0.061000	0.20836	0.404000	0.26397	0.010000	0.07245	0.127000	0.15790	0.173000	0.19788	-0.251000	0.11542	CAG		0.532	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		4	53	1	0	1.23904e-05	1	1.51882e-05	4	53				
TOP2A	7153	broad.mit.edu	37	17	38564345	38564345	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:38564345G>C	ENST00000423485.1	-	12	1532	c.1374C>G	c.(1372-1374)atC>atG	p.I458M		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	458	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CCTCAGTCAGGATAAGCGTAC	0.393																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1372-1374)atC>atG		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						54.0	51.0	52.0					17																	38564345		1842	4084	5926	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38564345G>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1374C>G	17.37:g.38564345G>C	ENSP00000411532:p.Ile458Met						p.I458M	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		12	1532	-		Breast(137;0.00328)	458					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1374C>G	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387014	0.61956	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.28069	1.63	5.36	3.39	0.38822	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67945	-0.5539	10	0.87932	D	0	.	8.1406	0.31080	0.3034:0.0:0.6966:0.0	.	458	P11388	TOP2A_HUMAN	M	458;538;481;494	ENSP00000411532:I458M	ENSP00000269577:I538M	I	-	3	3	TOP2A	35817871	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.144000	0.42197	0.658000	0.30925	0.591000	0.81541	ATC		0.393	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			4	85	0	0	0	1	0	4	85				
COG1	9382	broad.mit.edu	37	17	71192740	71192740	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:71192740C>A	ENST00000299886.4	+	2	490	c.410C>A	c.(409-411)gCc>gAc	p.A137D	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	137					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TCGATGGAAGCCTCTCAGTGT	0.562																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(409-411)gCc>gAc		component of oligomeric golgi complex 1							133.0	133.0	133.0					17																	71192740		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71192740C>A		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.410C>A	17.37:g.71192740C>A	ENSP00000299886:p.Ala137Asp						p.A137D	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	490	+			137					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.410C>A	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609260	0.46527	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.23950	1.88;1.88	4.9	4.9	0.64082	.	0.116036	0.56097	D	0.000024	T	0.27134	0.0665	L	0.38531	1.155	0.54753	D	0.999988	D;P;D	0.54964	0.969;0.839;0.969	P;B;P	0.49752	0.621;0.372;0.621	T	0.01472	-1.1346	10	0.13108	T	0.6	-11.7544	15.4294	0.75081	0.0:0.8613:0.1387:0.0	.	137;137;137	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	D	137	ENSP00000400111:A137D;ENSP00000299886:A137D	ENSP00000299886:A137D	A	+	2	0	COG1	68704335	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.320000	0.51991	2.547000	0.85894	0.655000	0.94253	GCC		0.562	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			5	190	1	0	1.23904e-05	1	1.51882e-05	5	190				
ZFPM2	23414	broad.mit.edu	37	8	106814115	106814115	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:106814115C>T	ENST00000407775.2	+	8	2055	c.1805C>T	c.(1804-1806)aCc>aTc	p.T602I	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T333I|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T470I|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	602					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T602I(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACTGGCCAAACCTCCATAAAC	0.458																																						ENST00000407775.2																			1	Substitution - Missense(1)	p.T602I(1)	prostate(1)	NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1804-1806)aCc>aTc		zinc finger protein, FOG family member 2							114.0	114.0	114.0					8																	106814115		1948	4157	6105	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814115C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1805C>T	8.37:g.106814115C>T	ENSP00000384179:p.Thr602Ile					ZFPM2_ENST00000378472.4_Missense_Mutation_p.T333I|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T470I	p.T602I	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2055	+			602					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1805C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428815	0.25726	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19938	2.11;2.57;2.57;3.8	5.74	3.89	0.44902	.	0.320986	0.36555	N	0.002538	T	0.10465	0.0256	N	0.14661	0.345	0.46901	D	0.999248	B	0.34103	0.437	B	0.28638	0.092	T	0.12967	-1.0527	10	0.49607	T	0.09	.	7.4748	0.27369	0.3488:0.4232:0.2281:0.0	.	602	Q8WW38	FOG2_HUMAN	I	602;470;470;333	ENSP00000384179:T602I;ENSP00000430757:T470I;ENSP00000428720:T470I;ENSP00000367733:T333I	ENSP00000367733:T333I	T	+	2	0	ZFPM2	106883291	0.904000	0.30761	0.986000	0.45419	0.985000	0.73830	0.781000	0.26774	1.424000	0.47217	0.655000	0.94253	ACC		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			16	179	0	0	0	1	0	16	179				
PBX4	80714	broad.mit.edu	37	19	19681601	19681601	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr19:19681601C>T	ENST00000251203.9	-	3	521	c.235G>A	c.(235-237)Gcc>Acc	p.A79T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	79					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A79T(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						AGGAGCTGGGCGTCAGGGGGA	0.562																																						ENST00000251203.8																			1	Substitution - Missense(1)	p.A79T(1)	prostate(1)	large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(235-237)Gcc>Acc		pre-B-cell leukemia homeobox 4							67.0	68.0	68.0					19																	19681601		2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19681601C>T	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.235G>A	19.37:g.19681601C>T	ENSP00000251203:p.Ala79Thr						p.A79T	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			3	521	-			79					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.235G>A	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312393	0.60414	.	.	ENSG00000105717	ENST00000251203	T	0.30714	1.52	3.21	2.14	0.27477	PBX (1);	0.067079	0.64402	D	0.000009	T	0.35158	0.0922	L	0.54323	1.7	0.39153	D	0.962266	D	0.59767	0.986	P	0.50754	0.649	T	0.25537	-1.0129	10	0.72032	D	0.01	-11.6854	9.1233	0.36799	0.0:0.5569:0.4431:0.0	.	79	Q9BYU1	PBX4_HUMAN	T	79	ENSP00000251203:A79T	ENSP00000251203:A79T	A	-	1	0	PBX4	19542601	0.338000	0.24775	0.250000	0.24296	0.832000	0.47134	1.793000	0.38764	0.534000	0.28695	0.196000	0.17591	GCC		0.562	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			6	83	0	0	0	1	0	6	83				
HSD17B3	3293	broad.mit.edu	37	9	99015189	99015189	+	Missense_Mutation	SNP	C	C	T	rs539588932		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr9:99015189C>T	ENST00000375263.3	-	4	328	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	HSD17B3_ENST00000464104.1_5'Flank|HSD17B3_ENST00000375262.2_Missense_Mutation_p.R94Q|RP11-240L7.4_ENST00000448857.1_RNA	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	94					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)	p.R94Q(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				CCCTGTAGTCCGCTCTACACG	0.423																																						ENST00000375263.3																			1	Substitution - Missense(1)	p.R94Q(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(280-282)cGg>cAg		hydroxysteroid (17-beta) dehydrogenase 3	NADH(DB00157)						129.0	126.0	127.0					9																	99015189		2203	4300	6503	SO:0001583	missense	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:99015189C>T		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.281G>A	9.37:g.99015189C>T	ENSP00000364412:p.Arg94Gln					HSD17B3_ENST00000375262.2_Missense_Mutation_p.R94Q	p.R94Q	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN			4	328	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	94					Q5U0Q6	Missense_Mutation	SNP	ENST00000375263.3	37	c.281G>A	CCDS6716.1	.	.	.	.	.	.	.	.	.	.	C	6.463	0.453581	0.12283	.	.	ENSG00000130948	ENST00000375263;ENST00000375262	D;D	0.92805	-3.11;-1.96	4.31	-3.62	0.04543	NAD(P)-binding domain (1);	2.312810	0.01436	N	0.014932	T	0.79221	0.4409	N	0.04387	-0.21	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.13407	0.009;0.002	T	0.71573	-0.4552	10	0.17369	T	0.5	13.4107	4.3768	0.11274	0.2525:0.2808:0.0:0.4667	.	94;94	Q5U0Q6;P37058	.;DHB3_HUMAN	Q	94	ENSP00000364412:R94Q;ENSP00000364411:R94Q	ENSP00000364411:R94Q	R	-	2	0	HSD17B3	98055010	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.655000	0.05348	-0.799000	0.04439	-0.137000	0.14449	CGG		0.423	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		15	288	0	0	0	1	0	15	288				
MED12	9968	broad.mit.edu	37	X	70357096	70357096	+	Silent	SNP	C	C	A			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chrX:70357096C>A	ENST00000374080.3	+	39	5643	c.5611C>A	c.(5611-5613)Cga>Aga	p.R1871R	MED12_ENST00000333646.6_Silent_p.R1871R|MED12_ENST00000374102.1_Silent_p.R1871R			Q93074	MED12_HUMAN	mediator complex subunit 12	1871	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTGCCCACCCGACCAACTTA	0.577			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(5611-5613)Cga>Aga		mediator complex subunit 12							65.0	64.0	64.0					X																	70357096		2068	4180	6248	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70357096C>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5611C>A	X.37:g.70357096C>A						MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Silent_p.R1871R|MED12_ENST00000374080.3_Silent_p.R1871R	p.R1871R	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			39	5810	+	Renal(35;0.156)		1871			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.5611C>A	CCDS43970.1																																																																																				0.577	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		3	52	1	0	1	1	1	3	52				
FZD3	7976	broad.mit.edu	37	8	28385111	28385111	+	Silent	SNP	A	A	T			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:28385111A>T	ENST00000240093.3	+	5	1312	c.834A>T	c.(832-834)acA>acT	p.T278T	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Silent_p.T278T	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	278					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.T278T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CCACAGTGACACAAGGATCTC	0.388																																						ENST00000240093.3																			1	Substitution - coding silent(1)	p.T278T(1)	prostate(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(832-834)acA>acT		frizzled family receptor 3							89.0	90.0	90.0					8																	28385111		2203	4300	6503	SO:0001819	synonymous_variant	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385111A>T	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.834A>T	8.37:g.28385111A>T						FZD3_ENST00000537916.1_Silent_p.T278T	p.T278T	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1312	+		Ovarian(32;2.06e-05)	278					A8K615	Silent	SNP	ENST00000240093.3	37	c.834A>T	CCDS6069.1																																																																																				0.388	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		9	206	0	0	0	1	0	9	206				
CARS	833	broad.mit.edu	37	11	3059393	3059393	+	Missense_Mutation	SNP	C	C	T	rs35902209		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr11:3059393C>T	ENST00000397111.5	-	6	684	c.439G>A	c.(439-441)Gat>Aat	p.D147N	CARS_ENST00000278224.9_Missense_Mutation_p.D147N|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000401769.3_Missense_Mutation_p.D160N|CARS_ENST00000397114.3_Missense_Mutation_p.D137N|CARS_ENST00000380525.4_Missense_Mutation_p.D230N			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	147					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TGCTTTTTATCGGGATCCGTG	0.448			T	ALK	ALCL						OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(409-411)Gat>Aat		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						152.0	144.0	147.0					11																	3059393		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3059393C>T	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.439G>A	11.37:g.3059393C>T	ENSP00000380300:p.Asp147Asn		OREG0020690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	CARS_ENST00000278224.9_Missense_Mutation_p.D147N|CARS_ENST00000380525.4_Missense_Mutation_p.D230N|CARS_ENST00000401769.3_Missense_Mutation_p.D160N|CARS_ENST00000397111.5_Missense_Mutation_p.D147N|CARS-AS1_ENST00000499962.1_RNA	p.D137N			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	7	785	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	147					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.409G>A	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878612	0.51801	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.46063	0.88;0.9;0.9;0.89;0.88	3.86	1.83	0.25207	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.054959	0.64402	N	0.000001	T	0.60314	0.2259	M	0.79693	2.465	0.58432	D	0.999995	P;D;D;D;D;D	0.89917	0.902;0.996;1.0;1.0;0.999;1.0	P;D;D;D;D;D	0.97110	0.479;0.928;0.996;1.0;0.957;0.996	T	0.56408	-0.7984	10	0.36615	T	0.2	-23.4026	8.9223	0.35619	0.0:0.8033:0.0:0.1967	rs35902209	160;230;147;147;230;137	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	N	230;147;147;137;160	ENSP00000369897:D230N;ENSP00000380300:D147N;ENSP00000278224:D147N;ENSP00000380303:D137N;ENSP00000384069:D160N	ENSP00000278224:D147N	D	-	1	0	CARS	3015969	0.999000	0.42202	0.400000	0.26346	0.130000	0.20726	4.169000	0.58223	0.238000	0.21222	-0.367000	0.07326	GAT		0.448	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		5	248	0	0	0	1	0	5	248				
KIF17	57576	broad.mit.edu	37	1	21031226	21031226	+	Silent	SNP	G	G	A	rs142802323	byFrequency	TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr1:21031226G>A	ENST00000247986.2	-	5	1147	c.837C>T	c.(835-837)gaC>gaT	p.D279D	KIF17_ENST00000400463.3_Silent_p.D279D|KIF17_ENST00000375044.1_Silent_p.D179D			Q9P2E2	KIF17_HUMAN	kinesin family member 17	279	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TACAGCGCCCGTCCACCAGCG	0.657													G|||	3	0.000599042	0.0023	0.0	5008	,	,		15320	0.0		0.0	False		,,,				2504	0.0					ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(835-837)gaC>gaT		kinesin family member 17		G	,	3,4403	6.2+/-15.9	0,3,2200	80.0	78.0	79.0		837,837	-0.2	1.0	1	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIF17	NM_001122819.1,NM_020816.2	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	279/1029,279/1030	21031226	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21031226G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.837C>T	1.37:g.21031226G>A						KIF17_ENST00000375044.1_Silent_p.D179D|KIF17_ENST00000400463.3_Silent_p.D279D	p.D279D			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	5	1147	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	279					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.837C>T	CCDS213.1																																																																																				0.657	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		4	90	0	0	0	1	0	4	90				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	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		5	46	0	0	0	1	0	5	46				
TOP2A	7153	broad.mit.edu	37	17	38557125	38557126	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:38557125_38557126CC>AA	ENST00000423485.1	-	21	2798_2799	c.2640_2641GG>TT	c.(2638-2643)atGGat>atTTat	p.880_881MD>IY		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	880					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TCTTCTCCATCCATCAAACGCC	0.401																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(2641-2643)Gat>Tat|c.(2638-2640)atG>atT		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)																																			SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38557125C>A|g.chr17:38557126C>A		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2640_2641delinsAA	17.37:g.38557125_38557126delinsAA	ENSP00000411532:p.M880_D881delinsIY						p.D881Y|p.M880I	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		21	2799|2798	-		Breast(137;0.00328)	881|880					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.2641G>T|c.2640G>T	CCDS45672.1																																																																																				0.401	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			9|8	456	1	0	0.307466|0.0477658	1	0.324547|0.055003	8	456				
MT-ND2	4536	broad.mit.edu	37	M	2197	2197	+	5'Flank	SNP	G	G	A			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chrM:2197G>A	ENST00000361453.3	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						GCCACCAATTAAGAAAGCGTT	0.398																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2197G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2197G>A	Exception_encountered							NR_039705.1						0	527	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.398	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		3	82	0	0	0	1	0	3	82				
RAG1	5896	broad.mit.edu	37	11	36597450	36597450	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr11:36597450G>A	ENST00000299440.5	+	2	2708	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	866					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V866M(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAAAGAGACTGTGGATGCAGT	0.493									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			2	Substitution - Missense(2)	p.V866M(2)	prostate(2)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2596-2598)Gtg>Atg		recombination activating gene 1							122.0	117.0	119.0					11																	36597450		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597450G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2596G>A	11.37:g.36597450G>A	ENSP00000299440:p.Val866Met						p.V866M	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2708	+	all_lung(20;0.226)	all_hematologic(20;0.107)	866					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2596G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833728	0.50951	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.87729	-2.29;-2.29	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.94355	0.8185	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.94332	0.7563	10	0.87932	D	0	.	20.2311	0.98348	0.0:0.0:1.0:0.0	.	866	P15918	RAG1_HUMAN	M	866	ENSP00000434610:V866M;ENSP00000299440:V866M	ENSP00000299440:V866M	V	+	1	0	RAG1	36554026	1.000000	0.71417	0.313000	0.25210	0.340000	0.28889	7.635000	0.83286	2.784000	0.95788	0.579000	0.79373	GTG		0.493	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		8	116	0	0	0	1	0	8	116				
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261|rs140531536	byFrequency	TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)ggcdel	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665														3539	0.706669	0.7821	0.7507	5008	,	,		10143	0.4514		0.7893	False		,,,				2504	0.7515					ENST00000319653.9																			1	Deletion - In frame(1)	p.G197delG(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(160-162)del		formin 2																																				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255569_240255571delGGC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.160_162delGGC	1.37:g.240255578_240255580delGGC	ENSP00000318884:p.Gly59del						p.G59del	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	390_392	+	Ovarian(103;0.127)	all_cancers(173;0.013)	59					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.160_162delGGC	CCDS31069.2																																																																																				0.665	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	4						7	4	---	---	---	---
LINC01317	104355287	broad.mit.edu	37	2	34146643	34146646	+	lincRNA	DEL	TATG	TATG	-	rs369479343|rs113440345|rs1976621|rs148620512|rs1976622	byFrequency	TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr2:34146643_34146646delTATG	ENST00000366209.2	+	0	134																											cacacacacatatgcacacacaca	0.456																																						ENST00000366209.2																			0																																																			0							g.chr2:34146643_34146646delTATG																													2.37:g.34146643_34146646delTATG														0	134	+									RNA	DEL	ENST00000366209.2	37																																																																																						0.456	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			3	4						3	4	---	---	---	---
LOC100130476	100130476	broad.mit.edu	37	6	138156122	138156123	+	RNA	INS	-	-	AGGC	rs201462526|rs56232106		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr6:138156122_138156123insAGGC	ENST00000606998.1	-	0	1056					NR_049793.1																						ggaaggaaggaaggcaggctct	0.49																																						ENST00000606998.1																			0																																																			0							g.chr6:138156122_138156123insAGGC																													6.37:g.138156127_138156130dupAGGC								NR_049793.1						0	1056	-									RNA	INS	ENST00000606998.1	37																																																																																						0.490	RP11-356I2.4-003	KNOWN	basic	antisense	antisense	OTTHUMT00000470421.2			3	4						3	4	---	---	---	---
