#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SCMH1	22955	broad.mit.edu	37	1	41494399	41494399	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:41494399C>A	ENST00000326197.7	-	14	2014		c.e14-1		SCMH1_ENST00000361191.5_Splice_Site|SCMH1_ENST00000337495.5_Splice_Site|SCMH1_ENST00000472037.1_Splice_Site|SCMH1_ENST00000372595.1_Splice_Site|SCMH1_ENST00000372597.1_Splice_Site|SCMH1_ENST00000372596.1_Splice_Site|SCMH1_ENST00000456518.2_Splice_Site|SCMH1_ENST00000361705.3_Splice_Site|SCMH1_ENST00000397171.2_Splice_Site|SCMH1_ENST00000397174.2_Splice_Site|SCMH1_ENST00000402904.2_Splice_Site					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CGGTCCGACCCTGCAGGACAG	0.597																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.e15-1		sex comb on midleg homolog 1 (Drosophila)							51.0	48.0	49.0					1																	41494399		2203	4300	6503	SO:0001630	splice_region_variant	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41494399C>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1715-1G>T	1.37:g.41494399C>A			Somatic				SCMH1_ENST00000361705.3_Splice_Site|SCMH1_ENST00000397174.2_Splice_Site|SCMH1_ENST00000472037.1_Splice_Site|SCMH1_ENST00000372597.1_Splice_Site|SCMH1_ENST00000326197.7_Splice_Site|SCMH1_ENST00000372596.1_Splice_Site|SCMH1_ENST00000456518.2_Splice_Site|SCMH1_ENST00000361191.5_Splice_Site|SCMH1_ENST00000397171.2_Splice_Site|SCMH1_ENST00000337495.5_Splice_Site|SCMH1_ENST00000372595.1_Splice_Site		NM_001031694.2	NP_001026864.1	WXS	Illumina GAIIx	Phase_I	Q96GD3	SCMH1_HUMAN			15	2083	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)							Splice_Site	SNP	ENST00000326197.7	37		CCDS30688.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957222	0.34565	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8261	0.85931	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCMH1	41266986	1.000000	0.71417	0.995000	0.50966	0.231000	0.25187	4.980000	0.63812	2.532000	0.85374	0.563000	0.77884	.		0.597	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1		Intron	4	81	4	81	---	---	---	---
FCGR2B	2213	broad.mit.edu	37	1	161647303	161647303	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:161647303C>A	ENST00000358671.5	+	8	974	c.893C>A	c.(892-894)cCg>cAg	p.P298Q	FCGR2B_ENST00000236937.9_Missense_Mutation_p.P279Q|FCGR2B_ENST00000367962.4_Missense_Mutation_p.P298Q|FCGR2B_ENST00000367960.5_Missense_Mutation_p.P291Q|FCGR2B_ENST00000403078.3_Missense_Mutation_p.P279Q|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Missense_Mutation_p.P291Q	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	298					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCATGCACCCGGATGCTCTG	0.468			T	?	ALL																																	ENST00000367962.4				Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0											c.(892-894)cCg>cAg		Fc fragment of IgG, low affinity IIb, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						181.0	175.0	177.0					1																	161647303		2203	4300	6503	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161647303C>A	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.893C>A	1.37:g.161647303C>A	ENSP00000351497:p.Pro298Gln		Somatic				FCGR2B_ENST00000367961.4_Missense_Mutation_p.P291Q|FCGR2B_ENST00000236937.9_Missense_Mutation_p.P279Q|FCGR2B_ENST00000358671.5_Missense_Mutation_p.P298Q|FCGR2B_ENST00000403078.3_Missense_Mutation_p.P279Q|FCGR2B_ENST00000367960.5_Missense_Mutation_p.P291Q	p.P298Q			WXS	Illumina GAIIx	Phase_I	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		8	1020	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		298					A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.893C>A	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044516	0.55110	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000236937;ENST00000367961;ENST00000358671	T;T;T;T;T;T	0.33654	4.49;1.4;4.06;4.06;1.4;4.49	5.18	4.27	0.50696	.	2.953980	0.01505	N	0.017688	T	0.44030	0.1274	L	0.57536	1.79	0.24121	N	0.995805	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.992	T	0.21177	-1.0253	10	0.46703	T	0.11	.	9.6194	0.39712	0.0:0.9039:0.0:0.0961	.	291;279;298	P31994-3;P31994-2;P31994	.;.;FCG2B_HUMAN	Q	298;291;279;279;291;298	ENSP00000356939:P298Q;ENSP00000356937:P291Q;ENSP00000386038:P279Q;ENSP00000236937:P279Q;ENSP00000356938:P291Q;ENSP00000351497:P298Q	ENSP00000236937:P279Q	P	+	2	0	FCGR2B	159913927	0.010000	0.17322	0.010000	0.14722	0.119000	0.20118	1.297000	0.33400	1.181000	0.42912	0.655000	0.94253	CCG		0.468	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		4	185	4	185	---	---	---	---
ASAP2	8853	broad.mit.edu	37	2	9496433	9496433	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:9496433G>T	ENST00000281419.3	+	14	1626	c.1286G>T	c.(1285-1287)aGg>aTg	p.R429M	ASAP2_ENST00000315273.4_Missense_Mutation_p.R429M	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	429	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GAAGTGCAGAGGATGACGGGC	0.493																																						ENST00000281419.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(1285-1287)aGg>aTg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 2							72.0	67.0	69.0					2																	9496433		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9496433G>T	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1286G>T	2.37:g.9496433G>T	ENSP00000281419:p.Arg429Met		Somatic				ASAP2_ENST00000315273.4_Missense_Mutation_p.R429M	p.R429M	NM_003887.2	NP_003878.1	WXS	Illumina GAIIx	Phase_I	O43150	ASAP2_HUMAN			14	1626	+			429			Arf-GAP.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.1286G>T	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354627	0.61293	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.46063	0.88;0.88	5.24	1.49	0.22878	.	0.227084	0.52532	D	0.000078	T	0.52370	0.1730	M	0.84585	2.705	0.51482	D	0.999922	P;P	0.51537	0.888;0.946	B;P	0.49012	0.401;0.598	T	0.57370	-0.7823	10	0.66056	D	0.02	.	10.1845	0.42988	0.2649:0.0:0.7351:0.0	.	429;429	O43150-2;O43150	.;ASAP2_HUMAN	M	429	ENSP00000281419:R429M;ENSP00000316404:R429M	ENSP00000281419:R429M	R	+	2	0	ASAP2	9413884	1.000000	0.71417	0.949000	0.38748	0.442000	0.32017	2.583000	0.46094	0.094000	0.17404	0.655000	0.94253	AGG		0.493	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		3	42	3	42	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179451941	179451941	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:179451941C>A	ENST00000591111.1	-	257	59298	c.59074G>T	c.(59074-59076)Ggg>Tgg	p.G19692W	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12393W|TTN_ENST00000460472.2_Missense_Mutation_p.G12268W|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18765W|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12460W|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G21333W			Q8WZ42	TITIN_HUMAN	titin	19692	Fibronectin type-III 42. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G18765W(1)|p.G18763W(1)|p.G12460W(1)|p.G12268W(1)|p.G12393W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTCATTCCCAGGGACAAGA	0.453																																						ENST00000589042.1																			5	Substitution - Missense(5)	p.G18765W(1)|p.G18763W(1)|p.G12460W(1)|p.G12268W(1)|p.G12393W(1)	lung(5)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(63997-63999)Ggg>Tgg		titin							159.0	159.0	159.0					2																	179451941		1938	4139	6077	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179451941C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59074G>T	2.37:g.179451941C>A	ENSP00000465570:p.Gly19692Trp		Somatic				TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12460W|TTN_ENST00000591111.1_Missense_Mutation_p.G19692W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12393W|TTN_ENST00000460472.2_Missense_Mutation_p.G12268W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18765W|TTN-AS1_ENST00000591332.1_RNA	p.G21333W	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	64221	-			19692			Ig-like 113.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.63997G>T		.	.	.	.	.	.	.	.	.	.	C	23.0	4.368436	0.82463	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80065	0.4555	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.80948	-0.1154	9	0.87932	D	0	.	19.9326	0.97124	0.0:1.0:0.0:0.0	.	12268;12393;12460;19692	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	18765;12268;12460;12393;12266	ENSP00000343764:G18765W;ENSP00000434586:G12268W;ENSP00000340554:G12460W;ENSP00000352154:G12393W	ENSP00000340554:G12460W	G	-	1	0	TTN	179160187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.720000	0.93068	0.650000	0.86243	GGG		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	157	4	157	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220501531	220501531	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:220501531C>A	ENST00000358055.3	+	16	2982	c.2470C>A	c.(2470-2472)Cag>Aag	p.Q824K	SLC4A3_ENST00000373762.3_Missense_Mutation_p.Q851K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.Q824K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.Q824K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.Q851K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	824	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTTTCACCCAGGAGATCTT	0.577																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2470-2472)Cag>Aag		solute carrier family 4 (anion exchanger), member 3							197.0	182.0	187.0					2																	220501531		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220501531C>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2470C>A	2.37:g.220501531C>A	ENSP00000350756:p.Gln824Lys		Somatic				SLC4A3_ENST00000317151.3_Missense_Mutation_p.Q824K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.Q824K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.Q851K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.Q851K	p.Q824K			WXS	Illumina GAIIx	Phase_I	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	2982	+		Renal(207;0.0183)	824			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2470C>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908439	0.92107	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.46	4.46	0.54185	Bicarbonate transporter, C-terminal (1);	0.061993	0.64402	D	0.000002	D	0.92041	0.7478	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	0.982;0.998;1.0	D;D;D	0.91635	0.938;0.992;0.999	D	0.94065	0.7330	10	0.87932	D	0	.	17.65	0.88161	0.0:1.0:0.0:0.0	.	528;824;851	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	K	824;824;851;851;87;824	ENSP00000350756:Q824K;ENSP00000362865:Q824K;ENSP00000273063:Q851K;ENSP00000362867:Q851K;ENSP00000314006:Q824K	ENSP00000273063:Q851K	Q	+	1	0	SLC4A3	220209775	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.495000	0.81514	2.454000	0.82982	0.637000	0.83480	CAG		0.577	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		4	192	4	192	---	---	---	---
RBM15B	29890	broad.mit.edu	37	3	51430154	51430154	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr3:51430154G>T	ENST00000323686.4	+	1	1424	c.1324G>T	c.(1324-1326)Ggg>Tgg	p.G442W		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	442	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGACCGCTTTGGGAGCATTCG	0.577																																						ENST00000323686.4																			0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1324-1326)Ggg>Tgg		RNA binding motif protein 15B							83.0	90.0	88.0					3																	51430154		2203	4300	6503	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430154G>T	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1324G>T	3.37:g.51430154G>T	ENSP00000313890:p.Gly442Trp		Somatic					p.G442W	NM_013286.4	NP_037418.3	WXS	Illumina GAIIx	Phase_I	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1424	+			442			RRM 3.		A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.1324G>T	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377413	0.82682	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.47177	0.85	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	D	0.83036	0.5167	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90605	0.4547	9	0.87932	D	0	-22.4068	19.0335	0.92967	0.0:0.0:1.0:0.0	.	442	Q8NDT2	RB15B_HUMAN	W	442;115	ENSP00000313890:G442W	ENSP00000313890:G442W	G	+	1	0	RBM15B	51405194	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	9.441000	0.97557	2.488000	0.83962	0.655000	0.94253	GGG		0.577	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	NM_013286		4	132	4	132	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183667559	183667559	+	Missense_Mutation	SNP	C	C	T	rs201003374		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr3:183667559C>T	ENST00000334444.6	-	22	3449	c.3209G>A	c.(3208-3210)gGg>gAg	p.G1070E	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1070	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AAACTCCTGCCCTTTATTGTA	0.562																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3208-3210)gGg>gAg		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							90.0	93.0	92.0					3																	183667559		2059	4185	6244	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667559C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3209G>A	3.37:g.183667559C>T	ENSP00000333926:p.Gly1070Glu		Somatic				ABCC5_ENST00000265586.6_Intron	p.G1070E	NM_005688.2	NP_005679.2	WXS	Illumina GAIIx	Phase_I	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		22	3449	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1070			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3209G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	5.313	0.243167	0.10077	.	.	ENSG00000114770	ENST00000334444	D	0.84516	-1.86	5.54	5.54	0.83059	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.199311	0.53938	D	0.000047	T	0.65281	0.2676	N	0.01464	-0.85	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.66364	-0.5942	10	0.02654	T	1	-15.2591	19.5024	0.95100	0.0:1.0:0.0:0.0	.	1070	O15440	MRP5_HUMAN	E	1070	ENSP00000333926:G1070E	ENSP00000333926:G1070E	G	-	2	0	ABCC5	185150253	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.965000	0.56788	2.607000	0.88179	0.655000	0.94253	GGG		0.562	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		11	35	11	35	---	---	---	---
RAP1GDS1	5910	broad.mit.edu	37	4	99300221	99300221	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr4:99300221C>A	ENST00000408927.3	+	5	528	c.415C>A	c.(415-417)Cat>Aat	p.H139N	RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.H140N|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.H140N|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000380158.4_Intron	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	139					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TGTAATTGACCATTTAAGGTC	0.378			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(415-417)Cat>Aat		RAP1, GTP-GDP dissociation stimulator 1							139.0	137.0	138.0					4																	99300221		1910	4128	6038	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99300221C>A		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.415C>A	4.37:g.99300221C>A	ENSP00000386153:p.His139Asn		Somatic				RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.H140N|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.H140N|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000264572.7_Intron	p.H139N	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	WXS	Illumina GAIIx	Phase_I	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	5	528	+			139					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.415C>A	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282763	0.59867	.	.	ENSG00000138698	ENST00000508213;ENST00000408927;ENST00000453712;ENST00000511212;ENST00000339360	T;T;T;T;T	0.50813	0.73;0.84;0.84;0.73;0.84	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.113562	0.64402	D	0.000018	T	0.35451	0.0932	N	0.14661	0.345	0.52501	D	0.999957	B;B;B;B	0.27117	0.079;0.079;0.168;0.023	B;B;B;B	0.25140	0.047;0.047;0.058;0.021	T	0.08743	-1.0707	10	0.28530	T	0.3	-2.9354	20.3932	0.98965	0.0:1.0:0.0:0.0	.	139;140;140;139	P52306;Q4QQI8;G5E9P9;B3KNU0	GDS1_HUMAN;.;.;.	N	98;139;140;98;140	ENSP00000426096:H98N;ENSP00000386153:H139N;ENSP00000407157:H140N;ENSP00000421599:H98N;ENSP00000340454:H140N	ENSP00000340454:H140N	H	+	1	0	RAP1GDS1	99519244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	CAT		0.378	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		4	119	4	119	---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134212927	134212927	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr6:134212927C>G	ENST00000367882.4	+	2	787	c.527C>G	c.(526-528)aCc>aGc	p.T176S	RP3-323P13.2_ENST00000607033.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T176S|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	176					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TTATGTGGAACCACCGCGTCC	0.657																																						ENST00000367882.4																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(526-528)aCc>aGc		transcription factor 21							48.0	50.0	49.0					6																	134212927		2203	4300	6503	SO:0001583	missense	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134212927C>G	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.527C>G	6.37:g.134212927C>G	ENSP00000356857:p.Thr176Ser		Somatic				RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.T176S	p.T176S	NM_003206.3	NP_003197.2	WXS	Illumina GAIIx	Phase_I	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	2	787	+	Colorectal(23;0.221)|Breast(56;0.247)		176					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.527C>G	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148302	0.78001	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96491	-4.03;-4.03	5.45	5.45	0.79879	.	0.109437	0.64402	D	0.000008	D	0.91395	0.7285	L	0.47716	1.5	0.50313	D	0.999864	B	0.33964	0.434	B	0.26202	0.067	D	0.90575	0.4525	10	0.26408	T	0.33	-22.6944	19.2772	0.94036	0.0:1.0:0.0:0.0	.	176	O43680	TCF21_HUMAN	S	176	ENSP00000356857:T176S;ENSP00000237316:T176S	ENSP00000237316:T176S	T	+	2	0	TCF21	134254620	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.630000	0.83225	2.554000	0.86153	0.650000	0.86243	ACC		0.657	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		5	41	5	41	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18687446	18687446	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr7:18687446G>A	ENST00000432645.2	+	9	1065	c.1065G>A	c.(1063-1065)acG>acA	p.T355T	HDAC9_ENST00000456174.2_Silent_p.T327T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000428307.2_Silent_p.T311T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000406451.4_Silent_p.T355T|HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000524023.1_Silent_p.T278T	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	355					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGTGTGAGACGCAGACGCTTA	0.493																																						ENST00000406451.4																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1063-1065)acG>acA		histone deacetylase 9	Valproic Acid(DB00313)						34.0	35.0	34.0					7																	18687446		2045	4192	6237	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18687446G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1065G>A	7.37:g.18687446G>A			Somatic				HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000428307.2_Silent_p.T311T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000524023.1_Silent_p.T278T|HDAC9_ENST00000432645.2_Silent_p.T355T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000456174.2_Silent_p.T327T	p.T355T	NM_178423.1	NP_848510.1	WXS	Illumina GAIIx	Phase_I	Q9UKV0	HDAC9_HUMAN			10	1215	+	all_lung(11;0.187)							A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1065G>A	CCDS47555.1																																																																																				0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			5	12	5	12	---	---	---	---
DYNC1I1	1780	broad.mit.edu	37	7	95705500	95705500	+	Silent	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr7:95705500T>C	ENST00000324972.6	+	15	1885	c.1692T>C	c.(1690-1692)aaT>aaC	p.N564N	DYNC1I1_ENST00000447467.2_Silent_p.N547N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000437599.1_Silent_p.N544N|DYNC1I1_ENST00000537881.1_Silent_p.N527N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	564					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACCTCAACAATGACACCGAGG	0.642											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1690-1692)aaT>aaC		dynein, cytoplasmic 1, intermediate chain 1							56.0	53.0	54.0					7																	95705500		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95705500T>C	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1692T>C	7.37:g.95705500T>C			Somatic	OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1315	DYNC1I1_ENST00000437599.1_Silent_p.N544N|DYNC1I1_ENST00000537881.1_Silent_p.N527N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000447467.2_Silent_p.N547N	p.N564N	NM_004411.4	NP_004402.1	WXS	Illumina GAIIx	Phase_I	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		15	1885	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		564					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.1692T>C	CCDS5644.1																																																																																				0.642	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		10	20	10	20	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39525629	39525630	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:39525629_39525630GC>TT	ENST00000265707.5	+	14	1484_1485	c.1439_1440GC>TT	c.(1438-1440)gGC>gTT	p.G480V	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCATTGAATGGCCGTTTGTGCA	0.406																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(1438-1440)gGc>gTc|c.(1438-1440)ggC>ggT		ADAM metallopeptidase domain 18																																				SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525629G>T|g.chr8:39525630C>T	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	Exception_encountered	8.37:g.39525629_39525630delinsTT	ENSP00000265707:p.Gly480Val		Somatic				ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.G456G|ADAM18_ENST00000541111.1_5'UTR	p.G480V|p.G480G	NM_014237.2	NP_055052.1	WXS	Illumina GAIIx	Phase_I	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1484|1485	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	480			Cys-rich.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation|Silent	SNP	ENST00000265707.5	37	c.1439G>T|c.1440C>T	CCDS6113.1																																																																																				0.406	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		52|55	203|201	52	201	---	---	---	---
ZNF488	118738	broad.mit.edu	37	10	48370598	48370598	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr10:48370598G>T	ENST00000395702.2	+	2	293	c.66G>T	c.(64-66)aaG>aaT	p.K22N	ZNF488_ENST00000494156.1_Missense_Mutation_p.K22N|ZNF488_ENST00000586537.1_5'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	22					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CAGCTGGGAAGGGAGCCCCGT	0.622																																						ENST00000395702.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						c.(64-66)aaG>aaT		zinc finger protein 488							54.0	61.0	59.0					10																	48370598		2202	4299	6501	SO:0001583	missense	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48370598G>T	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.66G>T	10.37:g.48370598G>T	ENSP00000379054:p.Lys22Asn		Somatic				ZNF488_ENST00000494156.1_Missense_Mutation_p.K22N|ZNF488_ENST00000586537.1_5'UTR	p.K22N			WXS	Illumina GAIIx	Phase_I	Q96MN9	ZN488_HUMAN			2	293	+			22					Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	c.66G>T	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730811	0.30684	.	.	ENSG00000165388	ENST00000395702;ENST00000433077;ENST00000442001;ENST00000436850;ENST00000412534;ENST00000444585;ENST00000425196	T;T;T;T;T;T	0.62639	1.62;0.55;0.05;0.01;0.94;0.97	4.6	2.63	0.31362	.	2.229260	0.02737	U	0.115831	T	0.69088	0.3072	M	0.61703	1.905	0.18873	N	0.999987	D	0.58620	0.983	P	0.51016	0.656	T	0.47275	-0.9130	10	0.72032	D	0.01	.	6.1366	0.20237	0.3778:0.0:0.6222:0.0	.	22	Q96MN9	ZN488_HUMAN	N	22	ENSP00000379054:K22N;ENSP00000401469:K22N;ENSP00000415923:K22N;ENSP00000406508:K22N;ENSP00000410326:K22N;ENSP00000412898:K22N	ENSP00000379054:K22N	K	+	3	2	ZNF488	47990604	0.053000	0.20554	0.007000	0.13788	0.073000	0.16967	0.415000	0.21181	0.398000	0.25338	0.561000	0.74099	AAG		0.622	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		4	112	4	112	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123843719	123843719	+	Silent	SNP	A	A	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr10:123843719A>T	ENST00000369005.1	+	4	2044	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G	TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	568					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTAAAGAAGGAAGCAGATCAC	0.592																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1702-1704)ggA>ggT		transforming, acidic coiled-coil containing protein 2							63.0	70.0	68.0					10																	123843719		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843719A>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1704A>T	10.37:g.123843719A>T			Somatic				TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000453444.2_Silent_p.G568G|TACC2_ENST00000334433.3_Silent_p.G568G	p.G568G	NM_206862.2	NP_996744.2	WXS	Illumina GAIIx	Phase_I	O95359	TACC2_HUMAN			4	2044	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	568					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.1704A>T	CCDS7626.1																																																																																				0.592	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			13	27	13	27	---	---	---	---
OR2AG2	338755	broad.mit.edu	37	11	6789258	6789258	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:6789258G>A	ENST00000338569.2	-	1	1028	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAATGTGCCAGCAGTATGTAT	0.483																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(931-933)Ctg>Ttg		olfactory receptor, family 2, subfamily AG, member 2							82.0	75.0	78.0					11																	6789258		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789258G>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.931C>T	11.37:g.6789258G>A			Somatic					p.L311L	NM_001004490.1	NP_001004490.1	WXS	Illumina GAIIx	Phase_I	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1028	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	311						Silent	SNP	ENST00000338569.2	37	c.931C>T	CCDS31413.1																																																																																				0.483	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		3	79	3	79	---	---	---	---
ARHGEF17	9828	broad.mit.edu	37	11	73078754	73078754	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:73078754G>T	ENST00000263674.3	+	21	6471	c.6121G>T	c.(6121-6123)Ggg>Tgg	p.G2041W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	2041					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ACTCAGCAGTGGGGGCGGCAG	0.647																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(6121-6123)Ggg>Tgg		Rho guanine nucleotide exchange factor (GEF) 17							103.0	98.0	99.0					11																	73078754		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73078754G>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.6121G>T	11.37:g.73078754G>T	ENSP00000263674:p.Gly2041Trp		Somatic					p.G2041W	NM_014786.3	NP_055601.2	WXS	Illumina GAIIx	Phase_I	Q96PE2	ARHGH_HUMAN			21	6471	+			2041					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.6121G>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240170	0.58995	.	.	ENSG00000110237	ENST00000263674	T	0.59502	0.26	5.57	4.47	0.54385	.	0.000000	0.47852	D	0.000201	T	0.64735	0.2625	L	0.47190	1.495	0.29084	N	0.882482	D	0.71674	0.998	P	0.62885	0.908	T	0.61496	-0.7051	10	0.87932	D	0	-28.5527	10.2126	0.43150	0.1046:0.0:0.8954:0.0	.	2041	Q96PE2	ARHGH_HUMAN	W	2041	ENSP00000263674:G2041W	ENSP00000263674:G2041W	G	+	1	0	ARHGEF17	72756402	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	2.651000	0.46674	2.617000	0.88574	0.561000	0.74099	GGG		0.647	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		4	191	4	191	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82877716	82877716	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:82877716T>A	ENST00000298281.4	+	5	2229	c.1777T>A	c.(1777-1779)Tct>Act	p.S593T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	593					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAGTTCCAAGTCTGCCAAAAG	0.363																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1777-1779)Tct>Act		PCF11 cleavage and polyadenylation factor subunit							71.0	72.0	71.0					11																	82877716		1780	3938	5718	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877716T>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1777T>A	11.37:g.82877716T>A	ENSP00000298281:p.Ser593Thr		Somatic					p.S593T	NM_015885.3	NP_056969.2	WXS	Illumina GAIIx	Phase_I	O94913	PCF11_HUMAN			5	2229	+			593					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1777T>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.966995	0.34754	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.46819	1.87;0.88;0.86	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000015	T	0.31167	0.0788	N	0.24115	0.695	0.28001	N	0.935292	P;B	0.39782	0.688;0.231	B;B	0.33750	0.169;0.081	T	0.26155	-1.0111	9	.	.	.	.	12.4108	0.55466	0.0:0.0:0.2563:0.7436	.	593;593	E9PQ01;O94913	.;PCF11_HUMAN	T	593	ENSP00000298281:S593T;ENSP00000434540:S593T;ENSP00000431567:S593T	.	S	+	1	0	PCF11	82555364	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.160000	0.42348	2.326000	0.78906	0.533000	0.62120	TCT		0.363	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		24	72	24	72	---	---	---	---
TUBA1C	84790	broad.mit.edu	37	12	49666942	49666942	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr12:49666942C>A	ENST00000301072.6	+	4	1557	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I	TUBA1C_ENST00000541364.1_Missense_Mutation_p.L498I|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	428					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CATGGCTGCCCTTGAGAAGGA	0.512																																						ENST00000301072.6																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						c.(1282-1284)Ctt>Att		tubulin, alpha 1c							132.0	125.0	127.0					12																	49666942		2203	4300	6503	SO:0001583	missense	84790				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr12:49666942C>A	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.1282C>A	12.37:g.49666942C>A	ENSP00000301072:p.Leu428Ile		Somatic				TUBA1C_ENST00000541364.1_Missense_Mutation_p.L498I|RP11-161H23.5_ENST00000550468.2_RNA	p.L428I	NM_032704.3	NP_116093.1	WXS	Illumina GAIIx	Phase_I	Q9BQE3	TBA1C_HUMAN			4	1557	+			428						Missense_Mutation	SNP	ENST00000301072.6	37	c.1282C>A	CCDS8782.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934137	0.52866	.	.	ENSG00000167553	ENST00000541364;ENST00000301072	D;D	0.88664	-2.41;-2.41	4.89	3.99	0.46301	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000003	D	0.95357	0.8493	M	0.93016	3.37	0.80722	D	1	B;D	0.54601	0.21;0.967	P;D	0.85130	0.687;0.997	D	0.95997	0.8990	10	0.87932	D	0	.	12.8118	0.57643	0.0:0.9174:0.0:0.0826	.	498;428	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	I	498;428	ENSP00000443475:L498I;ENSP00000301072:L428I	ENSP00000301072:L428I	L	+	1	0	TUBA1C	47953209	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.200000	0.51051	1.381000	0.46364	0.556000	0.70494	CTT		0.512	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704		4	180	4	180	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62212807	62212807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr15:62212807C>A	ENST00000261517.5	-	56	7175	c.7102G>T	c.(7102-7104)Gga>Tga	p.G2368*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.G2368*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.G2325*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.G2325*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAATCATCTCCTGGCAGCAAA	0.289																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(7102-7104)Gga>Tga		vacuolar protein sorting 13 homolog C (S. cerevisiae)							60.0	64.0	63.0					15																	62212807		2202	4291	6493	SO:0001587	stop_gained	54832				protein localization			g.chr15:62212807C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7102G>T	15.37:g.62212807C>A	ENSP00000261517:p.Gly2368*		Somatic				VPS13C_ENST00000395898.3_Nonsense_Mutation_p.G2325*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.G2325*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.G2368*	p.G2368*	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			56	7175	-			2368						Nonsense_Mutation	SNP	ENST00000261517.5	37	c.7102G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	49	15.213489	0.99826	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.5352	0.95251	0.0:1.0:0.0:0.0	.	.	.	.	X	2325;2368;2368;2368	.	ENSP00000249837:G2325X	G	-	1	0	VPS13C	60000099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.850000	0.98022	0.650000	0.86243	GGA		0.289	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		3	54	3	54	---	---	---	---
KRTAP9-9	81870	broad.mit.edu	37	17	39412068	39412068	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:39412068G>A	ENST00000394008.1	+	1	433	c.431G>A	c.(430-432)tGc>tAc	p.C144Y		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	129	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CGCCCCGCCTGCTGTGAGACC	0.612																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(430-432)tGc>tAc		keratin associated protein 9-9							155.0	163.0	160.0					17																	39412068		2203	4300	6503	SO:0001583	missense	81870					keratin filament		g.chr17:39412068G>A	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.431G>A	17.37:g.39412068G>A	ENSP00000377576:p.Cys144Tyr		Somatic					p.C144Y	NM_030975.2	NP_112237.2	WXS	Illumina GAIIx	Phase_I	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	433	+		Breast(137;0.000496)	144					B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	37	c.431G>A	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	18.95	3.731834	0.69189	.	.	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.05139	3.49	2.97	1.93	0.25924	.	.	.	.	.	T	0.28200	0.0696	M	0.92970	3.365	0.28324	N	0.922107	D	0.69078	0.997	D	0.67900	0.954	T	0.08106	-1.0738	9	0.46703	T	0.11	.	9.9663	0.41727	0.0:0.211:0.789:0.0	.	129	Q9BYP9	KRA99_HUMAN	Y	150;144	ENSP00000377576:C144Y	ENSP00000377576:C144Y	C	+	2	0	KRTAP9-9	36665594	0.991000	0.36638	0.341000	0.25589	0.703000	0.40648	1.764000	0.38471	0.491000	0.27793	0.205000	0.17691	TGC		0.612	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		7	251	7	251	---	---	---	---
NKIRAS2	28511	broad.mit.edu	37	17	40175835	40175835	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:40175835A>G	ENST00000307641.5	+	4	1121	c.500A>G	c.(499-501)aAg>aGg	p.K167R	NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000462043.2_3'UTR|ZNF385C_ENST00000461831.1_5'Flank	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	167	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				TTGGCCAGCAAGATGACGCAA	0.612																																						ENST00000307641.5																			0				large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(499-501)aAg>aGg		NFKB inhibitor interacting Ras-like 2							93.0	89.0	90.0					17																	40175835		2203	4300	6503	SO:0001583	missense	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40175835A>G	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.500A>G	17.37:g.40175835A>G	ENSP00000303580:p.Lys167Arg		Somatic				NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R	p.K167R	NM_001001349.2	NP_001001349.1	WXS	Illumina GAIIx	Phase_I	Q9NYR9	KBRS2_HUMAN			4	1121	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	167			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	ENST00000307641.5	37	c.500A>G	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394810	0.25205	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.92	3.72	0.42706	.	0.043780	0.85682	N	0.000000	T	0.61578	0.2358	N	0.16098	0.37	0.58432	D	0.999999	B;B	0.14438	0.01;0.006	B;B	0.20184	0.013;0.028	T	0.53129	-0.8482	10	0.44086	T	0.13	-11.8755	10.2735	0.43497	0.867:0.0:0.133:0.0	.	111;167	B4DNM3;Q9NYR9	.;KBRS2_HUMAN	R	167;165;167;167;167;111;205	ENSP00000303580:K167R;ENSP00000377462:K165R;ENSP00000377458:K167R;ENSP00000377459:K167R;ENSP00000377463:K167R;ENSP00000312773:K205R	ENSP00000303580:K167R	K	+	2	0	NKIRAS2	37429361	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.324000	0.72896	0.501000	0.28013	0.383000	0.25322	AAG		0.612	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		5	71	5	71	---	---	---	---
ARSG	22901	broad.mit.edu	37	17	66364821	66364821	+	Silent	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:66364821G>T	ENST00000448504.2	+	7	1633	c.837G>T	c.(835-837)ctG>ctT	p.L279L	ARSG_ENST00000452479.2_Silent_p.L115L|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	279					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGACAGTCTGGTGGGCCAGA	0.542																																						ENST00000448504.2																			0				NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26						c.(835-837)ctG>ctT		arylsulfatase G							124.0	112.0	116.0					17																	66364821		2203	4300	6503	SO:0001819	synonymous_variant	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66364821G>T	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.837G>T	17.37:g.66364821G>T			Somatic				ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Silent_p.L115L	p.L279L	NM_014960.4	NP_055775.2	WXS	Illumina GAIIx	Phase_I	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	1633	+			279					Q6UXF2|Q9Y2K4	Silent	SNP	ENST00000448504.2	37	c.837G>T	CCDS11676.1																																																																																				0.542	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		4	185	4	185	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76503647	76503647	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:76503647G>T	ENST00000585328.1	-	28	4592	c.4468C>A	c.(4468-4470)Cag>Aag	p.Q1490K	DNAH17_ENST00000389840.5_Missense_Mutation_p.Q1489K	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1489	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGTTCGCTGGACCTCAAAC	0.597																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(4465-4467)Cag>Aag		dynein, axonemal, heavy chain 17							48.0	55.0	52.0					17																	76503647		2147	4278	6425	SO:0001583	missense	8632							g.chr17:76503647G>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4468C>A	17.37:g.76503647G>T	ENSP00000465516:p.Gln1490Lys		Somatic				DNAH17_ENST00000585328.1_Missense_Mutation_p.Q1490K	p.Q1489K			WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		28	4589	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.4465C>A		.	.	.	.	.	.	.	.	.	.	G	28.6	4.937271	0.92458	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.80994	-1.44	4.97	4.97	0.65823	Dynein heavy chain, domain-2 (1);	.	.	.	.	D	0.94522	0.8236	H	0.99074	4.42	0.50039	D	0.999846	D	0.89917	1.0	D	0.85130	0.997	D	0.97127	0.9815	9	0.72032	D	0.01	.	18.2408	0.89967	0.0:0.0:1.0:0.0	.	1489	Q9UFH2	DYH17_HUMAN	K	1490;1489	ENSP00000374490:Q1489K	ENSP00000300671:Q1490K	Q	-	1	0	DNAH17	74015242	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.594000	0.98254	2.276000	0.75962	0.563000	0.77884	CAG		0.597	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	26	3	26	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43497668	43497668	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr18:43497668T>C	ENST00000282041.5	-	17	3249	c.3215A>G	c.(3214-3216)cAg>cGg	p.Q1072R	EPG5_ENST00000585906.1_5'Flank	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1072					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGGTAATACTGGCAAGGGTA	0.428																																						ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(3214-3216)cAg>cGg		ectopic P-granules autophagy protein 5 homolog (C. elegans)							172.0	159.0	163.0					18																	43497668		1880	4118	5998	SO:0001583	missense	57724				autophagy			g.chr18:43497668T>C	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3215A>G	18.37:g.43497668T>C	ENSP00000282041:p.Gln1072Arg		Somatic					p.Q1072R	NM_020964.2	NP_066015.2	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			17	3249	-			1072					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3215A>G	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	6.303	0.424076	0.11928	.	.	ENSG00000152223	ENST00000282041	T	0.09911	2.93	5.4	5.4	0.78164	.	1.079280	0.06987	N	0.820984	T	0.17577	0.0422	L	0.59436	1.845	0.41689	D	0.989331	B;B	0.28082	0.2;0.2	B;B	0.26416	0.069;0.069	T	0.06752	-1.0809	10	0.48119	T	0.1	-15.201	15.712	0.77635	0.0:0.0:0.0:1.0	.	1072;1072	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	R	1072	ENSP00000282041:Q1072R	ENSP00000282041:Q1072R	Q	-	2	0	EPG5	41751666	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	3.489000	0.53237	2.178000	0.69098	0.533000	0.62120	CAG		0.428	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		45	126	45	126	---	---	---	---
TRIP10	9322	broad.mit.edu	37	19	6750305	6750305	+	Silent	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:6750305G>A	ENST00000313244.9	+	13	1433	c.1398G>A	c.(1396-1398)gcG>gcA	p.A466A	TRIP10_ENST00000596758.1_Silent_p.A410A|TRIP10_ENST00000313285.8_Silent_p.A410A|TRIP10_ENST00000600428.1_Silent_p.A302A|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	466	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCTCCCAGGCGTGGCTGGCAG	0.667																																						ENST00000600428.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(904-906)gcG>gcA		thyroid hormone receptor interactor 10							54.0	63.0	60.0					19																	6750305		2203	4300	6503	SO:0001819	synonymous_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6750305G>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1398G>A	19.37:g.6750305G>A			Somatic				TRIP10_ENST00000596758.1_Silent_p.A410A|TRIP10_ENST00000313285.8_Silent_p.A410A|TRIP10_ENST00000313244.9_Silent_p.A466A|CTD-3128G10.6_ENST00000594056.1_RNA	p.A302A			WXS	Illumina GAIIx	Phase_I	Q15642	CIP4_HUMAN			12	1552	+			466			Interaction with CDC42.|Interaction with PDE6G (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37	c.906G>A																																																																																					0.667	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2			30	145	30	145	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31024752	31024752	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:31024752T>G	ENST00000375687.4	+	13	4661	c.4237T>G	c.(4237-4239)Tta>Gta	p.L1413V	ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1413					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTCTGGAAATTACCCCGAGA	0.542			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(4237-4239)Tta>Gta		additional sex combs like 1 (Drosophila)							107.0	112.0	110.0					20																	31024752		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024752T>G	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4237T>G	20.37:g.31024752T>G	ENSP00000364839:p.Leu1413Val		Somatic				ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	p.L1413V	NM_015338.5	NP_056153	WXS	Illumina GAIIx	Phase_I	Q8IXJ9	ASXL1_HUMAN			13	4661	+			1413					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.4237T>G	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.691121	0.30052	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.30981	1.53;1.51	4.42	2.19	0.27852	.	0.098308	0.37393	N	0.002105	T	0.22898	0.0553	L	0.34521	1.04	0.29815	N	0.83133	P;P	0.52316	0.884;0.952	B;B	0.43754	0.43;0.368	T	0.11991	-1.0565	10	0.62326	D	0.03	-0.624	7.9846	0.30205	0.0:0.2478:0.0:0.7522	.	1408;1413	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	V	1413;1413;1413;1334;1408	ENSP00000364839:L1413V;ENSP00000305119:L1408V	ENSP00000305119:L1408V	L	+	1	2	ASXL1	30488413	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	0.947000	0.29082	0.486000	0.27676	0.533000	0.62120	TTA		0.542	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		3	162	3	162	---	---	---	---
EMILIN3	90187	broad.mit.edu	37	20	39991280	39991280	+	Missense_Mutation	SNP	C	C	T	rs544595291		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:39991280C>T	ENST00000332312.3	-	4	1121	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	310						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCCCAGAGTCGGTGCAGCCG	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17865	0.0		0.0	False		,,,				2504	0.0					ENST00000332312.3																			0				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(928-930)cGa>cAa		elastin microfibril interfacer 3							26.0	27.0	27.0					20																	39991280		2203	4300	6503	SO:0001583	missense	90187					proteinaceous extracellular matrix		g.chr20:39991280C>T	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.929G>A	20.37:g.39991280C>T	ENSP00000332806:p.Arg310Gln		Somatic					p.R310Q	NM_052846.1	NP_443078.1	WXS	Illumina GAIIx	Phase_I	Q9NT22	EMIL3_HUMAN			4	1121	-		Myeloproliferative disorder(115;0.00425)	310					Q495S5|Q495S6|Q495S7|Q76KT4	Missense_Mutation	SNP	ENST00000332312.3	37	c.929G>A	CCDS13316.1	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121232	0.20877	.	.	ENSG00000183798	ENST00000332312	T	0.13901	2.55	5.3	0.552	0.17230	.	0.760060	0.12107	N	0.498885	T	0.10895	0.0266	L	0.51422	1.61	0.09310	N	1	B	0.24043	0.096	B	0.11329	0.006	T	0.30119	-0.9989	9	.	.	.	-2.4682	5.629	0.17499	0.1326:0.4767:0.0:0.3907	.	310	Q9NT22	EMIL3_HUMAN	Q	310	ENSP00000332806:R310Q	.	R	-	2	0	EMILIN3	39424694	0.000000	0.05858	0.288000	0.24862	0.969000	0.65631	-2.079000	0.01369	0.237000	0.21200	0.462000	0.41574	CGA		0.667	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		3	19	3	19	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44969495	44969495	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:44969495G>A	ENST00000377967.4	+	28	4217		c.e28+1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTTACATTAGTAAGTCAAAT	0.378			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.e28+1		lysine (K)-specific demethylase 6A							105.0	97.0	100.0					X																	44969495		2203	4300	6503	SO:0001630	splice_region_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969495G>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4176+1G>A	X.37:g.44969495G>A			Somatic				KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site		NM_021140.2	NP_066963.2	WXS	Illumina GAIIx	Phase_I	O15550	KDM6A_HUMAN			28	4217	+								Q52LL9|Q5JVQ7	Splice_Site	SNP	ENST00000377967.4	37		CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459215	0.84317	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797;ENST00000431196	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7744	0.91904	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44854439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.379000	0.81126	0.600000	0.82982	.		0.378	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140	Intron	28	33	28	33	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16265833	16265834	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:16265833_16265834delGA	ENST00000375759.3	+	15	11110_11111	c.10906_10907delGA	c.(10906-10908)gagfs	p.E3636fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCTG	0.584																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(10906-10908)gagfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16265833_16265834delGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10906_10907delGA	1.37:g.16265835_16265836delGA	ENSP00000364912:p.Glu3636fs		Somatic					p.E3636fs	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	15	11110_11111	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3636			SPOC.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.10906_10907delGA	CCDS164.1																																																																																				0.584	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		80	347	80	347	---	---	---	---
PARVG	64098	broad.mit.edu	37	22	44581708	44581708	+	Frame_Shift_Del	DEL	C	C	-	rs550686401		TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr22:44581708delC	ENST00000444313.3	+	4	584	c.100delC	c.(100-102)ccafs	p.P35fs	PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000422871.1_Frame_Shift_Del_p.P35fs	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	35					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GAAATACCTGCCACCCACTTC	0.587																																						ENST00000444313.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(100-102)ccafs		parvin, gamma							73.0	59.0	63.0					22																	44581708		2203	4300	6503	SO:0001589	frameshift_variant	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44581708delC	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.100delC	22.37:g.44581708delC	ENSP00000391583:p.Pro35fs		Somatic				PARVG_ENST00000422871.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs|PARVG_ENST00000453888.3_3'UTR	p.P35fs	NM_022141.5	NP_071424.1	WXS	Illumina GAIIx	Phase_I	Q9HBI0	PARVG_HUMAN			4	584	+		Ovarian(80;0.024)|all_neural(38;0.0299)						B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Frame_Shift_Del	DEL	ENST00000444313.3	37	c.100delC	CCDS14057.1																																																																																				0.587	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		10	56	10	56	---	---	---	---
