#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
WDR6	11180	broad.mit.edu	37	3	49050828	49050828	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr3:49050828A>G	ENST00000608424.1	+	2	1900	c.1861A>G	c.(1861-1863)Ata>Gta	p.I621V	WDR6_ENST00000415265.2_Missense_Mutation_p.I69V|WDR6_ENST00000395474.3_Missense_Mutation_p.I651V|WDR6_ENST00000448293.1_Missense_Mutation_p.I570V			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	621					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TGGGCTCCGTATAGTGCCCGA	0.557																																						ENST00000395474.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1951-1953)Ata>Gta		WD repeat domain 6							104.0	78.0	87.0					3																	49050828		2203	4300	6503	SO:0001583	missense	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49050828A>G	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1861A>G	3.37:g.49050828A>G	ENSP00000477389:p.Ile621Val					WDR6_ENST00000415265.2_Missense_Mutation_p.I69V|WDR6_ENST00000448293.1_Missense_Mutation_p.I570V	p.I651V	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	2231	+			621	V -> I (in Ref. 2; BAG58164).				B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	ENST00000608424.1	37	c.1951A>G		.	.	.	.	.	.	.	.	.	.	A	4.242	0.043846	0.08196	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.70045	2.81;-0.45;-0.45	5.35	-0.18	0.13295	WD40 repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);Six-bladed beta-propeller, TolB-like (1);	0.483859	0.25720	N	0.028752	T	0.39627	0.1085	N	0.12182	0.205	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.14504	-1.0470	10	0.40728	T	0.16	-11.4258	4.1182	0.10092	0.3744:0.0:0.2909:0.3347	.	69;621;570	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	V	651;69;570	ENSP00000378857:I651V;ENSP00000412195:I69V;ENSP00000413432:I570V	ENSP00000378857:I651V	I	+	1	0	WDR6	49025832	0.177000	0.23109	0.759000	0.31340	0.938000	0.57974	0.697000	0.25556	0.053000	0.16036	0.459000	0.35465	ATA		0.557	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			27	56	0	0	0	1	0	27	56				
SCAPER	49855	broad.mit.edu	37	15	76995317	76995317	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr15:76995317C>T	ENST00000563290.1	-	19	2369	c.2274G>A	c.(2272-2274)atG>atA	p.M758I	SCAPER_ENST00000538941.2_Missense_Mutation_p.M512I|SCAPER_ENST00000324767.7_Missense_Mutation_p.M758I			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	758	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CAATCTGTTCCATGTGCCTTC	0.353																																						ENST00000538941.2																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(1534-1536)atG>atA		S-phase cyclin A-associated protein in the ER							87.0	87.0	87.0					15																	76995317		1862	4112	5974	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76995317C>T	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2274G>A	15.37:g.76995317C>T	ENSP00000454973:p.Met758Ile					SCAPER_ENST00000324767.7_Missense_Mutation_p.M758I|SCAPER_ENST00000563290.1_Missense_Mutation_p.M758I	p.M512I	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN			19	2475	-			757			Glu-rich.		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.1536G>A	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551615	0.65311	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.23348	1.93;1.91	5.8	5.8	0.92144	.	0.035574	0.85682	D	0.000000	T	0.16257	0.0391	N	0.08118	0	0.58432	D	0.999999	B;P;B	0.36789	0.079;0.57;0.213	B;B;B	0.33454	0.065;0.164;0.108	T	0.07139	-1.0788	10	0.38643	T	0.18	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	757;779;512	Q9BY12;Q9BY12-2;F5H7X8	SCAPE_HUMAN;.;.	I	758;512;780	ENSP00000326924:M758I;ENSP00000442190:M512I	ENSP00000303560:M780I	M	-	3	0	SCAPER	74782372	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.732000	0.93576	0.650000	0.86243	ATG		0.353	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		26	65	0	0	0	1	0	26	65				
TCF7L1	83439	broad.mit.edu	37	2	85529723	85529723	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr2:85529723G>C	ENST00000282111.3	+	5	917	c.642G>C	c.(640-642)gaG>gaC	p.E214D		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	214	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCTCCCCAGAGATCGATCCAA	0.587																																						ENST00000282111.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						c.(640-642)gaG>gaC		transcription factor 7-like 1 (T-cell specific, HMG-box)							72.0	76.0	74.0					2																	85529723		2203	4300	6503	SO:0001583	missense	83439				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:85529723G>C	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.642G>C	2.37:g.85529723G>C	ENSP00000282111:p.Glu214Asp						p.E214D	NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN			5	917	+			214			Pro-rich.		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000282111.3	37	c.642G>C	CCDS1971.1	.	.	.	.	.	.	.	.	.	.	G	6.743	0.505878	0.12883	.	.	ENSG00000152284	ENST00000282111	D	0.98192	-4.78	4.53	3.63	0.41609	CTNNB1 binding, N-teminal (1);	0.116972	0.56097	N	0.000022	D	0.92351	0.7573	N	0.03268	-0.37	0.39289	D	0.964703	P	0.51537	0.946	P	0.45753	0.492	D	0.91659	0.5341	10	0.02654	T	1	.	11.5174	0.50529	0.0:0.0:0.8197:0.1803	.	214	Q9HCS4	TF7L1_HUMAN	D	214	ENSP00000282111:E214D	ENSP00000282111:E214D	E	+	3	2	TCF7L1	85383234	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.556000	0.45862	1.065000	0.40693	0.655000	0.94253	GAG		0.587	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252301.2	NM_031283		11	169	0	0	0	1	0	11	169				
SLX4	84464	broad.mit.edu	37	16	3647621	3647621	+	Missense_Mutation	SNP	C	C	T	rs145194745		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:3647621C>T	ENST00000294008.3	-	7	2082	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	481	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTCTATCTGTCGGCCTGTGGT	0.517								Direct reversal of damage					C|||	1	0.000199681	0.0	0.0	5008	,	,		17535	0.001		0.0	False		,,,				2504	0.0					ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1441-1443)cGa>cAa	Direct reversal of damage	SLX4 structure-specific endonuclease subunit		C	GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	77.0	84.0	81.0		1442	3.0	0.0	16	dbSNP_134	81	0,8600		0,0,4300	yes	missense	SLX4	NM_032444.2	43	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	481/1835	3647621	1,12993	2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3647621C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1442G>A	16.37:g.3647621C>T	ENSP00000294008:p.Arg481Gln						p.R481Q	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			7	2082	-			481			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.1442G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046387	0.55110	2.28E-4	0.0	ENSG00000188827	ENST00000294008	T	0.01272	5.07	5.34	3.03	0.35002	.	0.206555	0.33057	N	0.005323	T	0.00906	0.0030	N	0.17631	0.505	0.09310	N	1	P	0.48503	0.911	B	0.31946	0.138	T	0.58272	-0.7665	10	0.30078	T	0.28	.	9.3657	0.38223	0.0:0.6978:0.0:0.3022	.	481	Q8IY92	SLX4_HUMAN	Q	481	ENSP00000294008:R481Q	ENSP00000294008:R481Q	R	-	2	0	SLX4	3587622	0.000000	0.05858	0.019000	0.16419	0.867000	0.49689	0.507000	0.22675	1.246000	0.43901	0.655000	0.94253	CGA		0.517	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		27	126	0	0	0	1	0	27	126				
CEACAM8	1088	broad.mit.edu	37	19	43098036	43098036	+	Silent	SNP	G	G	A	rs146608676		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:43098036G>A	ENST00000244336.5	-	2	182	c.81C>T	c.(79-81)ttC>ttT	p.F27F	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	27					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GCGGGTTCCAGAAGGTGAAAA	0.498													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20499	0.0		0.0	False		,,,				2504	0.0					ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(79-81)ttC>ttT		carcinoembryonic antigen-related cell adhesion molecule 8							102.0	96.0	98.0					19																	43098036		2203	4300	6503	SO:0001819	synonymous_variant	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43098036G>A	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.81C>T	19.37:g.43098036G>A						CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.F27F	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			2	182	-		Prostate(69;0.00899)	27					O60399|Q16574	Silent	SNP	ENST00000244336.5	37	c.81C>T	CCDS12610.1																																																																																				0.498	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			24	169	0	0	0	1	0	24	169				
FHL2	2274	broad.mit.edu	37	2	105984158	105984158	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr2:105984158C>T	ENST00000409807.1	-	4	704	c.370G>A	c.(370-372)Gag>Aag	p.E124K	FHL2_ENST00000336660.5_Missense_Mutation_p.M65I|FHL2_ENST00000409177.1_Missense_Mutation_p.E240K|FHL2_ENST00000393353.3_Missense_Mutation_p.E124K|FHL2_ENST00000344213.4_Missense_Mutation_p.E234K|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000393352.3_Missense_Mutation_p.E124K|FHL2_ENST00000408995.1_Missense_Mutation_p.E124K|FHL2_ENST00000358129.4_Missense_Mutation_p.E124K|FHL2_ENST00000322142.8_Missense_Mutation_p.E124K			Q14192	FHL2_HUMAN	four and a half LIM domains 2	124	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AAGCAGGTCTCATGCCAGCTG	0.522																																						ENST00000409177.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(718-720)Gag>Aag		four and a half LIM domains 2							179.0	161.0	167.0					2																	105984158		2203	4300	6503	SO:0001583	missense	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:105984158C>T		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.370G>A	2.37:g.105984158C>T	ENSP00000386665:p.Glu124Lys					FHL2_ENST00000393353.3_Missense_Mutation_p.E124K|FHL2_ENST00000408995.1_Missense_Mutation_p.E124K|FHL2_ENST00000358129.4_Missense_Mutation_p.E124K|FHL2_ENST00000336660.5_Missense_Mutation_p.M65I|FHL2_ENST00000393352.3_Missense_Mutation_p.E124K|FHL2_ENST00000344213.4_Missense_Mutation_p.E234K|FHL2_ENST00000409807.1_Missense_Mutation_p.E124K|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000322142.8_Missense_Mutation_p.E124K	p.E240K			Q14192	FHL2_HUMAN			4	839	-			124			LIM zinc-binding 4.		Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	ENST00000409807.1	37	c.718G>A	CCDS2070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.724609|5.724609	0.96847|0.96847	.|.	.|.	ENSG00000115641|ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995|ENST00000336660	D;D;D;D;D;D;D;D|T	0.87809|0.16897	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3|2.31	5.59|5.59	5.59|5.59	0.84812|0.84812	Zinc finger, LIM-type (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.26048|0.26048	0.0635|0.0635	L|L	0.31157|0.31157	0.91|0.91	0.40062|0.40062	D|D	0.975905|0.975905	D;D;D;D|.	0.89917|.	1.0;0.995;0.994;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.945;0.964;0.997|.	T|T	0.00888|0.00888	-1.1526|-1.1526	10|7	0.39692|0.49607	T|T	0.17|0.09	.|.	19.5892|19.5892	0.95501|0.95501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	124;124;234;124|.	Q6I9R8;Q2I5I4;Q2XQU9;Q14192|.	.;.;.;FHL2_HUMAN|.	K|I	124;234;124;124;124;124;124;124|65	ENSP00000386892:E124K;ENSP00000344266:E234K;ENSP00000377021:E124K;ENSP00000377020:E124K;ENSP00000322909:E124K;ENSP00000350846:E124K;ENSP00000386665:E124K;ENSP00000386633:E124K|ENSP00000338270:M65I	ENSP00000322909:E124K|ENSP00000338270:M65I	E|M	-|-	1|3	0|0	FHL2|FHL2	105350590|105350590	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.619000|2.619000	0.88677|0.88677	0.563000|0.563000	0.77884|0.77884	GAG|ATG		0.522	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			31	139	0	0	0	1	0	31	139				
SRP68	6730	broad.mit.edu	37	17	74057636	74057636	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr17:74057636G>A	ENST00000307877.2	-	5	742	c.581C>T	c.(580-582)tCa>tTa	p.S194L	SRP68_ENST00000539137.1_Missense_Mutation_p.S156L|SRP68_ENST00000355113.5_Missense_Mutation_p.S93L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	194					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TAGCATTCCTGAGAGGTAAGC	0.438																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(580-582)tCa>tTa		signal recognition particle 68kDa							107.0	94.0	98.0					17																	74057636		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74057636G>A	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.581C>T	17.37:g.74057636G>A	ENSP00000312066:p.Ser194Leu					SRP68_ENST00000539137.1_Missense_Mutation_p.S156L|SRP68_ENST00000355113.5_Missense_Mutation_p.S93L	p.S194L	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			5	742	-			194					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.581C>T	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946385	0.53079	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	T;T;T	0.22945	1.93;1.93;1.93	5.66	4.7	0.59300	Tetratricopeptide-like helical (1);	0.333284	0.34088	N	0.004272	T	0.16128	0.0388	N	0.16307	0.4	0.45777	D	0.99866	B;B	0.31548	0.328;0.161	B;B	0.30495	0.116;0.053	T	0.08576	-1.0715	10	0.25751	T	0.34	-0.9704	13.0546	0.58973	0.0742:0.0:0.9258:0.0	.	156;194	G3V1U4;Q9UHB9	.;SRP68_HUMAN	L	156;194;194;194;93	ENSP00000446136:S156L;ENSP00000312066:S194L;ENSP00000347233:S93L	ENSP00000307756:S194L	S	-	2	0	SRP68	71569231	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	5.006000	0.63978	1.535000	0.49220	0.655000	0.94253	TCA		0.438	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		6	41	0	0	0	1	0	6	41				
CDC7	8317	broad.mit.edu	37	1	91985807	91985807	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:91985807G>C	ENST00000428239.1	+	11	1560	c.1301G>C	c.(1300-1302)aGa>aCa	p.R434T	CDC7_ENST00000430031.2_Missense_Mutation_p.R406T|CDC7_ENST00000234626.6_Missense_Mutation_p.R434T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	434	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AGGGGATCCAGAGAAACTATC	0.328																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(1300-1302)aGa>aCa		cell division cycle 7							91.0	91.0	91.0					1																	91985807		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91985807G>C	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1301G>C	1.37:g.91985807G>C	ENSP00000393139:p.Arg434Thr					CDC7_ENST00000234626.6_Missense_Mutation_p.R434T|CDC7_ENST00000430031.2_Missense_Mutation_p.R406T	p.R434T	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	11	1560	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	434			Protein kinase.		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.1301G>C	CCDS734.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798508	0.50208	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.64991	-0.13;-0.13;-0.13	5.69	0.492	0.16872	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.137365	0.64402	N	0.000004	T	0.41026	0.1141	N	0.16656	0.425	0.38240	D	0.941286	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.37244	-0.9714	10	0.23891	T	0.37	-23.4554	5.4648	0.16637	0.266:0.2457:0.4883:0.0	.	406;434	B7Z5H7;O00311	.;CDC7_HUMAN	T	406;434;434	ENSP00000407477:R406T;ENSP00000234626:R434T;ENSP00000393139:R434T	ENSP00000234626:R434T	R	+	2	0	CDC7	91758395	1.000000	0.71417	0.978000	0.43139	0.977000	0.68977	2.023000	0.41040	-0.148000	0.11234	0.455000	0.32223	AGA		0.328	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		6	52	0	0	0	1	0	6	52				
LHFPL5	222662	broad.mit.edu	37	6	35782404	35782404	+	Missense_Mutation	SNP	C	C	T	rs104893976		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr6:35782404C>T	ENST00000373853.1	+	2	872	c.494C>T	c.(493-495)aCg>aTg	p.T165M	LHFPL5_ENST00000496656.1_3'UTR|LHFPL5_ENST00000360215.1_Missense_Mutation_p.T165M			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	165			T -> M (in DFNB67). {ECO:0000269|PubMed:16752389}.		auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GGGGAGCAGACGGGCAAGTAC	0.627																																						ENST00000360215.1																			0				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20	GRCh37	CM062818	LHFPL5	M	rs104893976	c.(493-495)aCg>aTg		lipoma HMGIC fusion partner-like 5							182.0	119.0	141.0					6																	35782404		2203	4300	6503	SO:0001583	missense	222662					integral to membrane		g.chr6:35782404C>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.494C>T	6.37:g.35782404C>T	ENSP00000362960:p.Thr165Met					LHFPL5_ENST00000373853.1_Missense_Mutation_p.T165M|LHFPL5_ENST00000496656.1_3'UTR	p.T165M	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			2	871	+			165		T -> M (in DFNB67).			B3KX66	Missense_Mutation	SNP	ENST00000373853.1	37	c.494C>T	CCDS4812.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999211	0.93227	.	.	ENSG00000197753	ENST00000373853;ENST00000360215	T;T	0.73363	-0.74;-0.74	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.86435	0.5932	M	0.85710	2.77	0.58432	A	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.88536	0.3106	9	0.87932	D	0	-21.2576	18.717	0.91679	0.0:1.0:0.0:0.0	.	165	Q8TAF8	TMHS_HUMAN	M	165	ENSP00000362960:T165M;ENSP00000353346:T165M	ENSP00000353346:T165M	T	+	2	0	LHFPL5	35890382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.434000	0.82447	0.561000	0.74099	ACG		0.627	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		37	70	0	0	0	1	0	37	70				
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:155887393T>G	ENST00000368321.3	-	11	1360	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	SNORA42_ENST00000384744.1_RNA|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q446P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	446	Pro-rich.						RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1336-1338)cAg>cCg		KIAA0907							14.0	18.0	16.0					1																	155887393		2157	4273	6430	SO:0001583	missense	22889							g.chr1:155887393T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1337A>C	1.37:g.155887393T>G	ENSP00000357304:p.Gln446Pro					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P	p.Q446P			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1362	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		446			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1337A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	10.66	1.413076	0.25465	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.32753	1.44;1.44	5.76	0.471	0.16752	.	0.977681	0.08344	N	0.960281	T	0.04003	0.0112	N	0.03608	-0.345	0.29419	N	0.860713	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43442	-0.9391	10	0.22706	T	0.39	.	8.2981	0.31997	0.1873:0.0:0.4136:0.3991	.	446;446	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	446	ENSP00000357304:Q446P;ENSP00000357303:Q446P	ENSP00000357303:Q446P	Q	-	2	0	KIAA0907	154154017	0.988000	0.35896	0.899000	0.35326	0.963000	0.63663	-0.615000	0.05597	-0.064000	0.13043	0.533000	0.62120	CAG		0.567	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		11	61	0	0	0	1	0	11	61				
RNF113A	7737	broad.mit.edu	37	X	119005506	119005506	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chrX:119005506C>T	ENST00000371442.2	-	1	285	c.71G>A	c.(70-72)cGg>cAg	p.R24Q	NDUFA1_ENST00000371437.4_5'UTR	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	24							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						AGCCCCTTTCCGCCCAGGCTT	0.602																																						ENST00000371442.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(70-72)cGg>cAg		ring finger protein 113A							56.0	57.0	57.0					X																	119005506		2203	4299	6502	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119005506C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.71G>A	X.37:g.119005506C>T	ENSP00000360497:p.Arg24Gln					NDUFA1_ENST00000371437.4_5'UTR	p.R24Q	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN			1	285	-			24					B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.71G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939642	0.52972	.	.	ENSG00000125352	ENST00000371442	T	0.31247	1.5	5.29	5.29	0.74685	.	0.140134	0.46758	D	0.000262	T	0.24736	0.0600	M	0.66939	2.045	0.80722	D	1	P	0.48640	0.913	B	0.30401	0.115	T	0.15037	-1.0451	10	0.14656	T	0.56	.	13.3956	0.60851	0.0:1.0:0.0:0.0	.	24	O15541	R113A_HUMAN	Q	24	ENSP00000360497:R24Q	ENSP00000360497:R24Q	R	-	2	0	RNF113A	118889534	0.188000	0.23250	0.111000	0.21465	0.968000	0.65278	1.818000	0.39012	2.227000	0.72691	0.600000	0.82982	CGG		0.602	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		17	224	0	0	0	1	0	17	224				
NPY4R	5540	broad.mit.edu	37	10	47087440	47087440	+	Silent	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr10:47087440C>G	ENST00000395716.1	+	2	742	c.657C>G	c.(655-657)ctC>ctG	p.L219L	NPY4R_ENST00000374312.1_Silent_p.L219L			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	219					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										CCTTCCTGCTCCTCTTCCAGT	0.602																																						ENST00000374312.1																			0											c.(655-657)ctC>ctG		neuropeptide Y receptor Y4							206.0	164.0	178.0					10																	47087440		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr10:47087440C>G		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.657C>G	10.37:g.47087440C>G						NPY4R_ENST00000395716.1_Silent_p.L219L	p.L219L	NM_005972.4	NP_005963.3					3	1076	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.657C>G	CCDS31193.1																																																																																				0.602	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			13	305	0	0	0	1	0	13	305				
THOC6	79228	broad.mit.edu	37	16	3076528	3076528	+	Silent	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:3076528C>T	ENST00000326266.8	+	7	719	c.423C>T	c.(421-423)ctC>ctT	p.L141L	HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000574549.1_Silent_p.L117L|THOC6_ENST00000253952.9_Silent_p.L141L|THOC6_ENST00000575576.1_Silent_p.L117L|HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000396916.1_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	141					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						AGAATTCCCTCATCCTGGCTG	0.527																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(421-423)ctC>ctT		THO complex 6 homolog (Drosophila)							78.0	73.0	75.0					16																	3076528		2198	4300	6498	SO:0001819	synonymous_variant	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076528C>T	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.423C>T	16.37:g.3076528C>T						THOC6_ENST00000575576.1_Silent_p.L117L|THOC6_ENST00000574549.1_Silent_p.L117L|THOC6_ENST00000253952.9_Silent_p.L141L	p.L141L	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			7	719	+			141					B2RA85|Q8NBR1|Q9BTV9	Silent	SNP	ENST00000326266.8	37	c.423C>T	CCDS10491.1																																																																																				0.527	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		5	32	0	0	0	1	0	5	32				
SPTA1	6708	broad.mit.edu	37	1	158592868	158592868	+	Missense_Mutation	SNP	G	G	A	rs374336960		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:158592868G>A	ENST00000368147.4	-	43	6205	c.6025C>T	c.(6025-6027)Cgt>Tgt	p.R2009C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2009					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCGGCATAACGCTCTTCAATG	0.502																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6025-6027)Cgt>Tgt		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		G	CYS/ARG	1,3885		0,1,1942	282.0	282.0	282.0		6025	2.8	0.2	1		282	0,8286		0,0,4143	no	missense	SPTA1	NM_003126.2	180	0,1,6085	AA,AG,GG		0.0,0.0257,0.0082	probably-damaging	2009/2420	158592868	1,12171	1943	4143	6086	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592868G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6025C>T	1.37:g.158592868G>A	ENSP00000357129:p.Arg2009Cys					SPTA1_ENST00000368147.3_Missense_Mutation_p.R2006C|SPTA1_ENST00000461624.1_5'UTR	p.R2009C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			43	6205	-	all_hematologic(112;0.0378)		2009					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6025C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540995	0.45280	2.57E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56611	0.45;0.45	4.78	2.81	0.32909	.	.	.	.	.	T	0.61714	0.2369	M	0.80616	2.505	0.50313	D	0.999865	D	0.89917	1.0	D	0.77004	0.989	T	0.66337	-0.5949	9	0.87932	D	0	.	8.537	0.33368	0.083:0.0:0.7658:0.1512	.	2009	P02549	SPTA1_HUMAN	C	2009;2006	ENSP00000357130:R2009C;ENSP00000357129:R2006C	ENSP00000357129:R2006C	R	-	1	0	SPTA1	156859492	1.000000	0.71417	0.188000	0.23233	0.001000	0.01503	7.143000	0.77348	1.239000	0.43787	-0.140000	0.14226	CGT		0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		172	509	0	0	0	1	0	172	509				
FARP2	9855	broad.mit.edu	37	2	242396303	242396303	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr2:242396303G>A	ENST00000264042.3	+	14	1723	c.1553G>A	c.(1552-1554)gGa>gAa	p.G518E	FARP2_ENST00000545004.1_Missense_Mutation_p.G518E|FARP2_ENST00000373287.4_Missense_Mutation_p.G518E	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	518					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GATGCTGGCGGAGCCGGGATG	0.622																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1552-1554)gGa>gAa		FERM, RhoGEF and pleckstrin domain protein 2							28.0	29.0	28.0					2																	242396303		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242396303G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1553G>A	2.37:g.242396303G>A	ENSP00000264042:p.Gly518Glu					FARP2_ENST00000545004.1_Missense_Mutation_p.G518E|FARP2_ENST00000373287.4_Missense_Mutation_p.G518E	p.G518E	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	14	1723	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	518					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.1553G>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	4.555	0.103014	0.08731	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287	T;D;D	0.81499	-0.9;-1.5;-1.5	4.53	2.65	0.31530	Dbl homology (DH) domain (1);	0.432661	0.24391	N	0.038931	T	0.68732	0.3033	L	0.43152	1.355	0.09310	N	1	P;P;B	0.45474	0.493;0.859;0.181	B;B;B	0.43274	0.146;0.414;0.069	T	0.61357	-0.7079	10	0.02654	T	1	.	8.498	0.33141	0.0898:0.1609:0.7493:0.0	.	518;518;518	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	E	518	ENSP00000264042:G518E;ENSP00000443876:G518E;ENSP00000362384:G518E	ENSP00000264042:G518E	G	+	2	0	FARP2	242044976	1.000000	0.71417	0.019000	0.16419	0.213000	0.24496	1.990000	0.40717	0.331000	0.23511	0.609000	0.83330	GGA		0.622	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			10	67	0	0	0	1	0	10	67				
APPL2	55198	broad.mit.edu	37	12	105591668	105591668	+	Silent	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr12:105591668G>A	ENST00000258530.3	-	11	1152	c.927C>T	c.(925-927)ctC>ctT	p.L309L	APPL2_ENST00000549573.1_Intron|APPL2_ENST00000539978.2_Silent_p.L266L|APPL2_ENST00000551662.1_Silent_p.L315L	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCTGACACATGAGATTCCCGC	0.547																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(925-927)ctC>ctT		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							79.0	78.0	79.0					12																	105591668		2203	4300	6503	SO:0001819	synonymous_variant	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105591668G>A	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.927C>T	12.37:g.105591668G>A						APPL2_ENST00000551662.1_Silent_p.L315L|APPL2_ENST00000549573.1_Intron|APPL2_ENST00000539978.2_Silent_p.L266L	p.L309L	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			11	1152	-			309			PH.|Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000258530.3	37	c.927C>T	CCDS9101.1																																																																																				0.547	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		8	60	0	0	0	1	0	8	60				
SPTBN4	57731	broad.mit.edu	37	19	41081411	41081411	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:41081411C>G	ENST00000352632.3	+	36	7717	c.7631C>G	c.(7630-7632)tCc>tGc	p.S2544C	SHKBP1_ENST00000600733.1_5'Flank|SHKBP1_ENST00000291842.5_5'Flank|SPTBN4_ENST00000392025.1_Missense_Mutation_p.S1287C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.S2544C|SPTBN4_ENST00000593816.1_3'UTR			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2544					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTACTTCATCCACAGATGAG	0.637																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(7630-7632)tCc>tGc		spectrin, beta, non-erythrocytic 4							50.0	38.0	42.0					19																	41081411		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41081411C>G	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7631C>G	19.37:g.41081411C>G	ENSP00000263373:p.Ser2544Cys					SPTBN4_ENST00000598249.1_Missense_Mutation_p.S2544C|SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Missense_Mutation_p.S1287C	p.S2544C			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		36	7717	+			2544					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.7631C>G	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112204	0.77210	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	T;T	0.79554	-1.28;0.02	4.65	4.65	0.58169	.	0.000000	0.64402	U	0.000016	T	0.79885	0.4523	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.945	D	0.85151	0.0986	10	0.87932	D	0	.	16.6678	0.85257	0.0:1.0:0.0:0.0	.	1287;2544	C9JY79;Q9H254	.;SPTN4_HUMAN	C	2544;2544;1287	ENSP00000263373:S2544C;ENSP00000375879:S1287C	ENSP00000263373:S2544C	S	+	2	0	SPTBN4	45773251	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	6.350000	0.73017	2.296000	0.77279	0.462000	0.41574	TCC		0.637	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			6	39	0	0	0	1	0	6	39				
CNOT1	23019	broad.mit.edu	37	16	58621113	58621113	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:58621113C>G	ENST00000317147.5	-	6	757	c.425G>C	c.(424-426)aGa>aCa	p.R142T	CNOT1_ENST00000441024.2_Missense_Mutation_p.R142T|CNOT1_ENST00000569240.1_Missense_Mutation_p.R142T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	142					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACCGAAACCTCTAAGATCTGA	0.358																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(424-426)aGa>aCa		CCR4-NOT transcription complex, subunit 1							91.0	95.0	93.0					16																	58621113		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58621113C>G	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.425G>C	16.37:g.58621113C>G	ENSP00000320949:p.Arg142Thr					CNOT1_ENST00000569240.1_Missense_Mutation_p.R142T|CNOT1_ENST00000441024.2_Missense_Mutation_p.R142T	p.R142T	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	6	757	-			142					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.425G>C	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317345	0.60524	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.22945	1.93;1.93	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	M	0.65975	2.015	0.80722	D	1	P;P;P	0.43938	0.557;0.51;0.822	B;B;B	0.39258	0.295;0.066;0.194	T	0.07751	-1.0756	9	.	.	.	-8.8926	19.6599	0.95861	0.0:1.0:0.0:0.0	.	142;142;142	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	T	142	ENSP00000320949:R142T;ENSP00000413113:R142T	.	R	-	2	0	CNOT1	57178614	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.826000	0.62715	2.651000	0.90000	0.561000	0.74099	AGA		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		9	54	0	0	0	1	0	9	54				
LTN1	26046	broad.mit.edu	37	21	30339475	30339475	+	Silent	SNP	G	G	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr21:30339475G>C	ENST00000361371.5	-	10	1417	c.1338C>G	c.(1336-1338)ctC>ctG	p.L446L	LTN1_ENST00000389195.2_Silent_p.L492L|LTN1_ENST00000389194.2_Silent_p.L492L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	446					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CTGGGTCTTTGAGAACTGCAT	0.388																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(1336-1338)ctC>ctG		listerin E3 ubiquitin protein ligase 1							62.0	58.0	59.0					21																	30339475		2203	4300	6503	SO:0001819	synonymous_variant	26046						ligase activity|zinc ion binding	g.chr21:30339475G>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1338C>G	21.37:g.30339475G>C						LTN1_ENST00000389194.2_Silent_p.L492L|LTN1_ENST00000389195.2_Silent_p.L492L	p.L446L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			10	1488	-			446					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	ENST00000361371.5	37	c.1338C>G																																																																																					0.388	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		8	62	0	0	0	1	0	8	62				
MYH10	4628	broad.mit.edu	37	17	8381712	8381712	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr17:8381712C>A	ENST00000269243.4	-	39	5695	c.5557G>T	c.(5557-5559)Gaa>Taa	p.E1853*	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Nonsense_Mutation_p.E1869*|MYH10_ENST00000360416.3_Nonsense_Mutation_p.E1884*|MYH10_ENST00000396239.1_Nonsense_Mutation_p.E1874*	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1853					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATGAAGATTTCTTTCAGCTTC	0.493																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5650-5652)Gaa>Taa		myosin, heavy chain 10, non-muscle							161.0	135.0	144.0					17																	8381712		2203	4300	6503	SO:0001587	stop_gained	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8381712C>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5557G>T	17.37:g.8381712C>A	ENSP00000269243:p.Glu1853*					MYH10_ENST00000396239.1_Nonsense_Mutation_p.E1874*|NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000269243.4_Nonsense_Mutation_p.E1853*|MYH10_ENST00000379980.4_Nonsense_Mutation_p.E1869*	p.E1884*	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			41	5788	-			1853					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Nonsense_Mutation	SNP	ENST00000269243.4	37	c.5650G>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	46	12.481818	0.99671	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	.	.	.	4.9	4.9	0.64082	.	0.103125	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6313	0.91360	0.0:1.0:0.0:0.0	.	.	.	.	X	1853;1884;1874;1869	.	ENSP00000269243:E1853X	E	-	1	0	MYH10	8322437	1.000000	0.71417	0.960000	0.40013	0.998000	0.95712	7.609000	0.82925	2.717000	0.92951	0.655000	0.94253	GAA		0.493	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			14	108	1	0	7.93312e-07	1	8.40323e-07	14	108				
DMD	1756	broad.mit.edu	37	X	31792217	31792217	+	Nonsense_Mutation	SNP	C	C	A	rs128626253		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chrX:31792217C>A	ENST00000357033.4	-	51	7608	c.7402G>T	c.(7402-7404)Gag>Tag	p.E2468*	DMD_ENST00000378707.3_Nonsense_Mutation_p.E8*|DMD_ENST00000343523.2_Nonsense_Mutation_p.E8*|DMD_ENST00000541735.1_Nonsense_Mutation_p.E8*|DMD_ENST00000359836.1_Nonsense_Mutation_p.E8*|DMD_ENST00000474231.1_Nonsense_Mutation_p.E8*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E2464*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2468					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCAGGTACCTCCAACATCAAG	0.458																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77	GRCh37	CM084899|CX921033	DMD	M|X	rs128626253	c.(7402-7404)Gag>Tag		dystrophin							100.0	84.0	89.0					X																	31792217		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31792217C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7402G>T	X.37:g.31792217C>A	ENSP00000354923:p.Glu2468*					DMD_ENST00000359836.1_Nonsense_Mutation_p.E8*|DMD_ENST00000378707.3_Nonsense_Mutation_p.E8*|DMD_ENST00000474231.1_Nonsense_Mutation_p.E8*|DMD_ENST00000541735.1_Nonsense_Mutation_p.E8*|DMD_ENST00000343523.2_Nonsense_Mutation_p.E8*|DMD_ENST00000378677.2_Nonsense_Mutation_p.E2464*	p.E2468*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			51	7608	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2468					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.7402G>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.835336|16.835336	0.99873|0.99873	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	.|.	.|.	.|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.37348|.	U|.	0.002135|.	.|T	.|0.73651	.|0.3614	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74054	.|-0.3788	.|3	0.51188|.	T|.	0.08|.	.|.	17.6536|17.6536	0.88171|0.88171	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	2460;1127;1124;164;2464;2468;8;8;2468;2345;8;8;8|196	.|.	ENSP00000340057:E8X|.	E|G	-|-	1|2	0|0	DMD|DMD	31702138|31702138	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.223000|6.223000	0.72257|0.72257	2.096000|2.096000	0.63516|0.63516	0.594000|0.594000	0.82650|0.82650	GAG|GGA		0.458	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		9	87	1	0	1.12685e-05	1	1.18485e-05	9	87				
PTPRZ1	5803	broad.mit.edu	37	7	121680999	121680999	+	Missense_Mutation	SNP	C	C	T	rs142748552		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:121680999C>T	ENST00000393386.2	+	21	6178	c.5767C>T	c.(5767-5769)Cgc>Tgc	p.R1923C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R1056C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1923	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTATGCCAAGCGCCATGCAGT	0.512													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17165	0.0		0.0	False		,,,				2504	0.0					ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(5767-5769)Cgc>Tgc		protein tyrosine phosphatase, receptor-type, Z polypeptide 1		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	66.0	69.0		3187,3166,5767	6.1	1.0	7	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	PTPRZ1	NM_001206838.1,NM_001206839.1,NM_002851.2	180,180,180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	1063/1456,1056/1449,1923/2316	121680999	2,13004	2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121680999C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5767C>T	7.37:g.121680999C>T	ENSP00000377047:p.Arg1923Cys					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.R1056C	p.R1923C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			21	6178	+			1923			Tyrosine-protein phosphatase 1.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5767C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682047	0.47991	2.27E-4	1.16E-4	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.15372	2.43;2.43	6.06	6.06	0.98353	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.080862	0.53938	D	0.000056	T	0.26159	0.0638	N	0.17345	0.48	0.44570	D	0.997534	B;B;D	0.89917	0.025;0.141;1.0	B;B;D	0.80764	0.011;0.07;0.994	T	0.02031	-1.1226	10	0.54805	T	0.06	.	13.7889	0.63128	0.0:0.9304:0.0:0.0696	.	1062;1056;1923	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	C	1923;1056	ENSP00000377047:R1923C;ENSP00000410000:R1056C	ENSP00000377047:R1923C	R	+	1	0	PTPRZ1	121468235	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.284000	0.51708	2.880000	0.98712	0.650000	0.86243	CGC		0.512	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		12	86	0	0	0	1	0	12	86				
C3orf62	375341	broad.mit.edu	37	3	49313987	49313987	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr3:49313987G>C	ENST00000343010.3	-	1	1355	c.319C>G	c.(319-321)Ctg>Gtg	p.L107V	MIR4271_ENST00000582451.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	107										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGCACAGAGCATGTGGT	0.498																																						ENST00000343010.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(319-321)Ctg>Gtg		chromosome 3 open reading frame 62							132.0	127.0	129.0					3																	49313987		2203	4300	6503	SO:0001583	missense	375341							g.chr3:49313987G>C	AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.319C>G	3.37:g.49313987G>C	ENSP00000341139:p.Leu107Val						p.L107V	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	1355	-			107					Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	ENST00000343010.3	37	c.319C>G	CCDS2792.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401457	0.42613	.	.	ENSG00000188315	ENST00000343010;ENST00000436325	T;T	0.49720	0.77;0.77	4.94	-4.98	0.03019	.	0.467974	0.14935	N	0.289868	T	0.25494	0.0620	N	0.20986	0.625	0.09310	N	1	B	0.14805	0.011	B	0.15484	0.013	T	0.10776	-1.0615	10	0.39692	T	0.17	-1.32	6.8354	0.23933	0.2464:0.2836:0.47:0.0	.	107	Q6ZUJ4	CC062_HUMAN	V	107;105	ENSP00000341139:L107V;ENSP00000413663:L105V	ENSP00000341139:L107V	L	-	1	2	C3orf62	49288991	0.000000	0.05858	0.000000	0.03702	0.813000	0.45954	-0.333000	0.07894	-0.632000	0.05553	-0.312000	0.09012	CTG		0.498	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345990.1	NM_198562		38	77	0	0	0	1	0	38	77				
CHD1	1105	broad.mit.edu	37	5	98232910	98232910	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr5:98232910G>A	ENST00000284049.3	-	10	1629	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	494	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CACCAAGAATGAGCAAGCCAA	0.348																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(1480-1482)Cat>Tat		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						88.0	89.0	89.0					5																	98232910		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98232910G>A	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1480C>T	5.37:g.98232910G>A	ENSP00000284049:p.His494Tyr						p.H494Y	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	10	1629	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	494			Helicase ATP-binding.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.1480C>T	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619551	0.87460	.	.	ENSG00000153922	ENST00000284049	D	0.93133	-3.17	5.76	5.76	0.90799	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.34828	U	0.003649	D	0.87229	0.6125	N	0.02876	-0.465	0.80722	D	1	B	0.33583	0.418	B	0.39590	0.304	D	0.86358	0.1715	10	0.40728	T	0.16	.	19.9647	0.97261	0.0:0.0:1.0:0.0	.	494	O14646	CHD1_HUMAN	Y	494	ENSP00000284049:H494Y	ENSP00000284049:H494Y	H	-	1	0	CHD1	98260810	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.441000	0.97557	2.719000	0.93026	0.585000	0.79938	CAT		0.348	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		33	56	0	0	0	1	0	33	56				
NBPF10	100132406	broad.mit.edu	37	1	145365372	145365372	+	Missense_Mutation	SNP	C	C	G	rs4126496	byFrequency	TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:145365372C>G	ENST00000342960.5	+	80	10032	c.9997C>G	c.(9997-9999)Ctt>Gtt	p.L3333V	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	647						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTCAGGTTGTCTTGAACTGTG	0.488													.|||	1218	0.243211	0.1377	0.3674	5008	,	,		33448	0.1627		0.3887	False		,,,				2504	0.2311					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9997-9999)Ctt>Gtt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145365372C>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9997C>G	1.37:g.145365372C>G	ENSP00000345684:p.Leu3333Val					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.L3333V	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	80	10032	+	all_hematologic(923;0.032)		3333					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9997C>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	7.899	0.734062	0.15574	.	.	ENSG00000163386	ENST00000342960	T	0.07216	3.21	0.74	0.74	0.18330	.	.	.	.	.	T	0.02193	0.0068	L	0.36672	1.1	0.80722	P	0.0	.	.	.	.	.	.	T	0.47262	-0.9131	6	0.17369	T	0.5	.	4.8933	0.13737	0.0:1.0:0.0:0.0	rs4126496	.	.	.	V	3333	ENSP00000345684:L3333V	ENSP00000345684:L3333V	L	+	1	0	NBPF10	144076729	0.002000	0.14202	0.001000	0.08648	0.018000	0.09664	1.024000	0.30077	0.725000	0.32318	0.152000	0.16155	CTT		0.488	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	118	0	0	0	1	0	6	118				
ITGA10	8515	broad.mit.edu	37	1	145537478	145537478	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:145537478C>G	ENST00000369304.3	+	20	2663	c.2488C>G	c.(2488-2490)Ctg>Gtg	p.L830V	ITGA10_ENST00000538811.1_Missense_Mutation_p.L699V|ITGA10_ENST00000539363.1_Missense_Mutation_p.L687V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	830					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATCTACAACTCTGGAGAACAG	0.522																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2488-2490)Ctg>Gtg		integrin, alpha 10							190.0	201.0	197.0					1																	145537478		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145537478C>G	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2488C>G	1.37:g.145537478C>G	ENSP00000358310:p.Leu830Val					ITGA10_ENST00000539363.1_Missense_Mutation_p.L687V|ITGA10_ENST00000538811.1_Missense_Mutation_p.L699V	p.L830V	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			20	2663	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		830					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.2488C>G	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	6.277	0.419235	0.11870	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.37411	1.2;1.2;1.2	4.97	3.1	0.35709	Integrin alpha-2 (1);	0.187567	0.36815	N	0.002397	T	0.21387	0.0515	L	0.31476	0.935	0.39790	D	0.972427	D;P;D;D	0.76494	0.966;0.924;0.985;0.999	P;P;P;D	0.75484	0.872;0.665;0.883;0.986	T	0.17379	-1.0371	10	0.10636	T	0.68	.	4.4717	0.11715	0.1759:0.6411:0.0:0.183	.	796;699;687;830	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	V	830;796;687;699	ENSP00000358310:L830V;ENSP00000439894:L687V;ENSP00000440011:L699V	ENSP00000358310:L830V	L	+	1	2	ITGA10	144248835	0.988000	0.35896	0.846000	0.33378	0.210000	0.24377	2.802000	0.47916	0.696000	0.31696	0.655000	0.94253	CTG		0.522	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		41	450	0	0	0	1	0	41	450				
ATAD5	79915	broad.mit.edu	37	17	29203482	29203482	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr17:29203482C>G	ENST00000321990.4	+	15	4076	c.3698C>G	c.(3697-3699)cCt>cGt	p.P1233R		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1233					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CGAGCACTTCCTCCCAAAACC	0.353																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(3697-3699)cCt>cGt		ATPase family, AAA domain containing 5							67.0	68.0	68.0					17																	29203482		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29203482C>G		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3698C>G	17.37:g.29203482C>G	ENSP00000313171:p.Pro1233Arg						p.P1233R	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			15	4076	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1233					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.3698C>G	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967755	0.74131	.	.	ENSG00000176208	ENST00000321990	T	0.08370	3.1	5.21	4.24	0.50183	ATPase, AAA+ type, core (1);	0.166603	0.52532	N	0.000065	T	0.13030	0.0316	L	0.57536	1.79	0.31262	N	0.69284	P	0.51351	0.944	P	0.48114	0.567	T	0.05716	-1.0868	10	0.16420	T	0.52	.	13.1141	0.59289	0.0:0.9217:0.0:0.0783	.	1233	Q96QE3	ATAD5_HUMAN	R	1233	ENSP00000313171:P1233R	ENSP00000313171:P1233R	P	+	2	0	ATAD5	26227608	0.979000	0.34478	0.981000	0.43875	0.961000	0.63080	2.519000	0.45546	1.295000	0.44724	0.655000	0.94253	CCT		0.353	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		27	53	0	0	0	1	0	27	53				
RP1L1	94137	broad.mit.edu	37	8	10466364	10466364	+	Silent	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:10466364C>G	ENST00000382483.3	-	4	5467	c.5244G>C	c.(5242-5244)ggG>ggC	p.G1748G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1828					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTCTCTGGCTCCCCTCGCCAT	0.622																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(5242-5244)ggG>ggC		retinitis pigmentosa 1-like 1							122.0	128.0	126.0					8																	10466364		2002	4187	6189	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10466364C>G	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5244G>C	8.37:g.10466364C>G							p.G1748G	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5467	-			1748					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.5244G>C	CCDS43708.1																																																																																				0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			38	239	0	0	0	1	0	38	239				
ARHGEF2	9181	broad.mit.edu	37	1	155931629	155931629	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:155931629C>T	ENST00000361247.4	-	11	1390	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	ARHGEF2_ENST00000368315.4_Missense_Mutation_p.E432K|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.E476K|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.E430K|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.E403K|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.E403K	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	431	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E403*(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TAAATACCCTCGTCCACATTG	0.632																																					Melanoma(178;35 2768 6610 28839)	ENST00000368316.1																			1	Substitution - Nonsense(1)	p.E403*(1)	lung(1)	breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1207-1209)Gag>Aag		Rho/Rac guanine nucleotide exchange factor (GEF) 2							73.0	73.0	73.0					1																	155931629		2203	4300	6503	SO:0001583	missense	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155931629C>T	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1291G>A	1.37:g.155931629C>T	ENSP00000354837:p.Glu431Lys					ARHGEF2_ENST00000368315.3_Missense_Mutation_p.E432K|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.E430K|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.E431K|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.E403K	p.E403K			Q92974	ARHG2_HUMAN			15	1677	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		431			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	ENST00000361247.4	37	c.1207G>A	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	C	1.749	-0.489629	0.04352	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	4.86	3.95	0.45737	Dbl homology (DH) domain (5);	0.155125	0.30159	N	0.010263	T	0.25680	0.0625	N	0.15975	0.35	0.22835	N	0.998674	B;B;B;B	0.16396	0.017;0.005;0.001;0.002	B;B;B;B	0.17098	0.017;0.01;0.0;0.006	T	0.14309	-1.0477	10	0.11794	T	0.64	-31.2352	7.0728	0.25187	0.0912:0.1764:0.7323:0.0	.	476;475;431;430	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	K	403;431;432;403;476;404;430	ENSP00000315325:E403K;ENSP00000354837:E431K;ENSP00000357298:E432K;ENSP00000357299:E403K;ENSP00000314787:E430K	ENSP00000314787:E430K	E	-	1	0	ARHGEF2	154198253	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	0.913000	0.28611	1.411000	0.46957	-0.197000	0.12766	GAG		0.632	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		10	168	0	0	0	1	0	10	168				
HIST1H1C	3006	broad.mit.edu	37	6	26056240	26056240	+	Silent	SNP	C	C	T	rs547786942		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr6:26056240C>T	ENST00000343677.2	-	1	459	c.417G>A	c.(415-417)aaG>aaA	p.K139K		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	139					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CAGCCGCCTTCTTGGGCTTCT	0.567																																						ENST00000343677.2																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(415-417)aaG>aaA		histone cluster 1, H1c							62.0	74.0	70.0					6																	26056240		2198	4296	6494	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056240C>T	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.417G>A	6.37:g.26056240C>T							p.K139K	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	459	-			139					A8K4I2	Silent	SNP	ENST00000343677.2	37	c.417G>A	CCDS4577.1																																																																																				0.567	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		24	172	0	0	0	1	0	24	172				
VSTM4	196740	broad.mit.edu	37	10	50285331	50285331	+	Silent	SNP	G	G	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr10:50285331G>T	ENST00000332853.4	-	4	590	c.567C>A	c.(565-567)atC>atA	p.I189I		NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GAATGCTGAGGATCCCCACGC	0.527																																						ENST00000332853.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						c.(565-567)atC>atA		V-set and transmembrane domain containing 4							138.0	108.0	118.0					10																	50285331		2203	4300	6503	SO:0001819	synonymous_variant	196740					integral to membrane|plasma membrane		g.chr10:50285331G>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.567C>A	10.37:g.50285331G>T							p.I189I	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN			4	590	-			189					B4DNI6|Q96MX7	Silent	SNP	ENST00000332853.4	37	c.567C>A	CCDS31198.1																																																																																				0.527	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2	NM_144984		7	69	1	0	0.000442599	1	0.000458636	7	69				
PCDHB5	26167	broad.mit.edu	37	5	140516600	140516600	+	Silent	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr5:140516600C>T	ENST00000231134.5	+	1	1801	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTCGAGTTCCGCGTGGGAG	0.687																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1582-1584)ttC>ttT									49.0	53.0	52.0					5																	140516600		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516600C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1584C>T	5.37:g.140516600C>T							p.F528F	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1801	+			528			Cadherin 5.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1584C>T	CCDS4247.1																																																																																				0.687	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		48	158	0	0	0	1	0	48	158				
ABCD4	5826	broad.mit.edu	37	14	74757084	74757084	+	Missense_Mutation	SNP	C	C	T	rs374984401		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr14:74757084C>T	ENST00000356924.4	-	12	1380	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	ABCD4_ENST00000557554.1_5'UTR|ABCD4_ENST00000298816.7_Missense_Mutation_p.E309K|AC005519.4_ENST00000554532.2_RNA	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	413	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTCTGTCCCTCGGAGATCTTT	0.592											OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356924.4																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1237-1239)Gag>Aag		ATP-binding cassette, sub-family D (ALD), member 4		C	LYS/GLU	0,4406		0,0,2203	128.0	131.0	130.0		1237	1.3	0.9	14		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCD4	NM_005050.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	413/607	74757084	1,13005	2203	4300	6503	SO:0001583	missense	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74757084C>T	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.1237G>A	14.37:g.74757084C>T	ENSP00000349396:p.Glu413Lys		OREG0022800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1155	ABCD4_ENST00000298816.7_Missense_Mutation_p.E309K|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557554.1_5'UTR	p.E413K	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	12	1380	-			413			ABC transporter.		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	c.1237G>A	CCDS9828.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198105	0.38806	0.0	1.16E-4	ENSG00000119688	ENST00000356924;ENST00000298816	D;D	0.99839	-3.28;-7.07	5.37	1.33	0.21861	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.221479	0.47455	D	0.000234	D	0.98040	0.9354	N	0.11756	0.17	0.36146	D	0.847124	B;B;B;B	0.19331	0.035;0.004;0.02;0.007	B;B;B;B	0.15052	0.012;0.003;0.005;0.003	D	0.99961	1.1741	10	0.13853	T	0.58	.	9.531	0.39193	0.0:0.5249:0.334:0.141	.	309;309;413;413	F8W7M4;B7Z4V6;A8K5L7;O14678	.;.;.;ABCD4_HUMAN	K	413;309	ENSP00000349396:E413K;ENSP00000298816:E309K	ENSP00000298816:E309K	E	-	1	0	ABCD4	73826837	0.998000	0.40836	0.887000	0.34795	0.900000	0.52787	2.934000	0.48956	0.388000	0.25054	0.561000	0.74099	GAG		0.592	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		33	211	0	0	0	1	0	33	211				
NFAT5	10725	broad.mit.edu	37	16	69727140	69727140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:69727140C>T	ENST00000354436.2	+	12	3676	c.3358C>T	c.(3358-3360)Caa>Taa	p.Q1120*	NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q1044*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q1137*|NFAT5_ENST00000349945.1_Nonsense_Mutation_p.Q1044*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q1138*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q1044*	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1120					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q1044K(1)|p.Q1138K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTTTCACTCTCAAAGTACCAT	0.428																																						ENST00000349945.1																			2	Substitution - Missense(2)	p.Q1044K(1)|p.Q1138K(1)	kidney(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3130-3132)Caa>Taa		nuclear factor of activated T-cells 5, tonicity-responsive							106.0	108.0	107.0					16																	69727140		2198	4300	6498	SO:0001587	stop_gained	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727140C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3358C>T	16.37:g.69727140C>T	ENSP00000346420:p.Gln1120*					NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q1137*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q1138*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q1044*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.Q1120*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q1044*	p.Q1044*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	4682	+			1120					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Nonsense_Mutation	SNP	ENST00000354436.2	37	c.3130C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	41	8.620910	0.98888	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	.	.	.	5.83	5.83	0.93111	.	0.269957	0.38605	N	0.001636	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-1.5194	20.1162	0.97934	0.0:1.0:0.0:0.0	.	.	.	.	X	1138;1137;1044;1120;1044	.	ENSP00000338806:Q1044X	Q	+	1	0	NFAT5	68284641	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	5.790000	0.69038	2.756000	0.94617	0.655000	0.94253	CAA		0.428	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		8	176	0	0	0	1	0	8	176				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	27	0	0	0	1	0	4	27				
PIK3R1	5295	broad.mit.edu	37	5	67593325	67593325	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr5:67593325C>G	ENST00000521381.1	+	16	2687	c.2071C>G	c.(2071-2073)Ctg>Gtg	p.L691V	PIK3R1_ENST00000521657.1_Missense_Mutation_p.L691V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.L699V|PIK3R1_ENST00000523872.1_Missense_Mutation_p.L328V|PIK3R1_ENST00000320694.8_Missense_Mutation_p.L391V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.L421V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.L691V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	691	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTACAGCTCTCTGAAAGAACT	0.493			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		2	Whole gene deletion(1)|Unknown(1)	p.0?(1)|p.?(1)	large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(2071-2073)Ctg>Gtg		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						247.0	238.0	241.0					5																	67593325		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67593325C>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.2071C>G	5.37:g.67593325C>G	ENSP00000428056:p.Leu691Val	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000320694.8_Missense_Mutation_p.L391V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.L421V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.L699V|PIK3R1_ENST00000523872.1_Missense_Mutation_p.L328V|PIK3R1_ENST00000521657.1_Missense_Mutation_p.L691V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.L691V	p.L691V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	16	2687	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	691			SH2 2.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.2071C>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496896	0.64186	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	4.96	4.08	0.47627	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.95043	0.8395	M	0.71206	2.165	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.999;0.999	D	0.94429	0.7648	10	0.49607	T	0.09	-10.8658	13.7466	0.62879	0.0:0.9246:0.0:0.0754	.	421;391;691	P27986-2;P27986-3;P27986	.;.;P85A_HUMAN	V	691;691;699;691;391;421;328	ENSP00000428056:L691V;ENSP00000429277:L691V;ENSP00000379855:L699V;ENSP00000274335:L691V;ENSP00000323512:L391V;ENSP00000338554:L421V;ENSP00000430098:L328V	ENSP00000274335:L691V	L	+	1	2	PIK3R1	67629081	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	3.206000	0.51098	2.592000	0.87571	0.655000	0.94253	CTG		0.493	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		36	227	0	0	0	1	0	36	227				
TMEM171	134285	broad.mit.edu	37	5	72427547	72427547	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr5:72427547C>T	ENST00000454765.2	+	4	1438	c.965C>T	c.(964-966)tCc>tTc	p.S322F	TMEM171_ENST00000287773.5_Missense_Mutation_p.S321F|RP11-232L2.2_ENST00000508255.1_RNA			Q8WVE6	TM171_HUMAN	transmembrane protein 171	322						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TCTGAGCCTTCCCCACCGTAA	0.353																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(964-966)tCc>tTc		transmembrane protein 171							123.0	121.0	122.0					5																	72427547		2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72427547C>T	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.965C>T	5.37:g.72427547C>T	ENSP00000415030:p.Ser322Phe					TMEM171_ENST00000287773.5_Missense_Mutation_p.S321F	p.S322F			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	4	1438	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	322					Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.965C>T	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	C	9.034	0.988090	0.18966	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.30714	1.52;1.52	5.22	3.45	0.39498	.	0.328441	0.26058	N	0.026599	T	0.29556	0.0737	M	0.65975	2.015	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.26018	-1.0115	10	0.51188	T	0.08	-6.2457	7.4694	0.27340	0.0:0.6937:0.147:0.1593	.	321;322	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	F	322;321	ENSP00000415030:S322F;ENSP00000287773:S321F	ENSP00000287773:S321F	S	+	2	0	TMEM171	72463303	0.247000	0.23920	0.017000	0.16124	0.064000	0.16182	2.508000	0.45450	0.599000	0.29845	-0.244000	0.11960	TCC		0.353	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		26	175	0	0	0	1	0	26	175				
LGSN	51557	broad.mit.edu	37	6	63990030	63990030	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr6:63990030G>C	ENST00000370657.4	-	4	1459	c.1426C>G	c.(1426-1428)Cta>Gta	p.L476V	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	476					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTTCTCCTAGAGCCTGTCTC	0.383																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1426-1428)Cta>Gta		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						76.0	79.0	78.0					6																	63990030		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990030G>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1426C>G	6.37:g.63990030G>C	ENSP00000359691:p.Leu476Val					LGSN_ENST00000370658.5_3'UTR	p.L476V			Q5TDP6	LGSN_HUMAN			4	1459	-			476					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1426C>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931956	0.34096	.	.	ENSG00000146166	ENST00000370657	D	0.90732	-2.72	5.96	5.96	0.96718	Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94285	0.8164	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.94480	0.7692	10	0.72032	D	0.01	-12.5536	8.7704	0.34728	0.158:0.0:0.842:0.0	.	476	Q5TDP6	LGSN_HUMAN	V	476	ENSP00000359691:L476V	ENSP00000359691:L476V	L	-	1	2	LGSN	64047989	1.000000	0.71417	0.993000	0.49108	0.058000	0.15608	2.765000	0.47621	2.832000	0.97577	0.655000	0.94253	CTA		0.383	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		12	87	0	0	0	1	0	12	87				
C7	730	broad.mit.edu	37	5	40947793	40947793	+	Silent	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr5:40947793C>T	ENST00000313164.9	+	8	1187	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	276	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				CTGAGCCATTCTGGAAGGAGC	0.448																																						ENST00000313164.9																			0											c.(826-828)ttC>ttT		complement component 7							82.0	78.0	79.0					5																	40947793		1848	4087	5935	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40947793C>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.828C>T	5.37:g.40947793C>T							p.F276F	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			8	1187	+		Ovarian(839;0.0112)	276			MACPF.		Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.828C>T	CCDS47201.1																																																																																				0.448	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			5	92	0	0	0	1	0	5	92				
PCDHGA2	56113	broad.mit.edu	37	5	140718777	140718777	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr5:140718777G>A	ENST00000394576.2	+	1	239	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.572																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(238-240)cGa>cAa									59.0	64.0	62.0					5																	140718777		2203	4300	6503	SO:0001583	missense	0							g.chr5:140718777G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.239G>A	5.37:g.140718777G>A	ENSP00000378077:p.Arg80Gln					PCDHGA1_ENST00000517417.1_Intron	p.R80Q	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	239	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.239G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.536404	0.27475	.	.	ENSG00000081853	ENST00000394576	T	0.26810	1.71	5.08	3.27	0.37495	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.37136	U	0.002224	T	0.19327	0.0464	L	0.48877	1.53	0.09310	N	1	P;P	0.35944	0.497;0.529	B;B	0.34652	0.118;0.187	T	0.13683	-1.0500	10	0.48119	T	0.1	.	5.4761	0.16695	0.3917:0.0:0.6083:0.0	.	80;80	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Q	80	ENSP00000378077:R80Q	ENSP00000378077:R80Q	R	+	2	0	PCDHGA2	140698961	0.001000	0.12720	0.804000	0.32291	0.427000	0.31564	1.396000	0.34531	1.280000	0.44463	-0.218000	0.12543	CGA		0.572	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		20	135	0	0	0	1	0	20	135				
ANKRD6	22881	broad.mit.edu	37	6	90276782	90276782	+	Silent	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr6:90276782C>G	ENST00000522441.1	+	2	728	c.87C>G	c.(85-87)ctC>ctG	p.L29L	RP11-16C18.3_ENST00000425588.1_RNA|ANKRD6_ENST00000520793.1_Silent_p.L29L|ANKRD6_ENST00000339746.4_Silent_p.L29L|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000485637.1_Silent_p.L29L|ANKRD6_ENST00000369408.5_Silent_p.L29L|ANKRD6_ENST00000447838.2_Silent_p.L29L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	29					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TGGTTCAGCTCATCAACAAGG	0.498																																						ENST00000369408.5																			0				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21						c.(85-87)ctC>ctG		ankyrin repeat domain 6							52.0	52.0	52.0					6																	90276782		1958	4147	6105	SO:0001819	synonymous_variant	22881						protein binding	g.chr6:90276782C>G	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.87C>G	6.37:g.90276782C>G						ANKRD6_ENST00000520793.1_Silent_p.L29L|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000485637.1_Silent_p.L29L|ANKRD6_ENST00000339746.4_Silent_p.L29L|ANKRD6_ENST00000447838.2_Silent_p.L29L|ANKRD6_ENST00000522441.1_Silent_p.L29L	p.L29L	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0209)	2	436	+		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)	29					B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	ENST00000522441.1	37	c.87C>G	CCDS56441.1																																																																																				0.498	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376594.1			4	7	0	0	0	1	0	4	7				
CATSPERG	57828	broad.mit.edu	37	19	38853443	38853443	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:38853443C>A	ENST00000409235.3	+	20	2561	c.2446C>A	c.(2446-2448)Ctg>Atg	p.L816M	CATSPERG_ENST00000410018.1_Missense_Mutation_p.L776M|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	816					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GCAGGAGGTCCTGATTAATCG	0.567																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2446-2448)Ctg>Atg		catsper channel auxiliary subunit gamma							70.0	71.0	71.0					19																	38853443		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38853443C>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2446C>A	19.37:g.38853443C>A	ENSP00000386962:p.Leu816Met					CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.L776M	p.L816M	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			20	2561	+			816					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2446C>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890935	0.33348	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.49432	0.78;0.78	4.37	-3.89	0.04193	.	1.276660	0.05605	N	0.577134	T	0.54062	0.1835	M	0.69823	2.125	0.09310	N	0.999999	B;P	0.48589	0.022;0.912	B;P	0.54759	0.046;0.76	T	0.54255	-0.8321	10	0.52906	T	0.07	-1.8366	3.453	0.07505	0.4334:0.2962:0.0:0.2705	.	816;776	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	M	776;816;816	ENSP00000387057:L776M;ENSP00000386962:L816M	ENSP00000386962:L816M	L	+	1	2	CATSPERG	43545283	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.853000	0.04303	-0.370000	0.08016	-0.372000	0.07161	CTG		0.567	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		54	123	1	0	2.75338e-15	1	3.02872e-15	54	123				
REV1	51455	broad.mit.edu	37	2	100079058	100079058	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr2:100079058C>G	ENST00000258428.3	-	3	309	c.81G>C	c.(79-81)caG>caC	p.Q27H	REV1_ENST00000393445.3_Missense_Mutation_p.Q27H	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	27					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCCAATTTCTGGACCTTGG	0.378								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(79-81)caG>caC	Direct reversal of damage	REV1, polymerase (DNA directed)							115.0	107.0	110.0					2																	100079058		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100079058C>G	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.81G>C	2.37:g.100079058C>G	ENSP00000258428:p.Gln27His					REV1_ENST00000393445.3_Missense_Mutation_p.Q27H	p.Q27H	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			3	309	-			27					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.81G>C	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352060	0.61183	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.31247	1.5;1.5	5.63	4.76	0.60689	BRCT (1);	0.168925	0.53938	D	0.000043	T	0.36303	0.0962	L	0.47716	1.5	0.35932	D	0.83261	P;P;P	0.39094	0.659;0.626;0.606	P;B;P	0.48166	0.569;0.401;0.537	T	0.46498	-0.9187	10	0.45353	T	0.12	.	10.2372	0.43290	0.0:0.84:0.0:0.16	.	6;27;27	Q9UBZ9-3;Q9UBZ9;Q9UBZ9-2	.;REV1_HUMAN;.	H	27	ENSP00000377091:Q27H;ENSP00000258428:Q27H	ENSP00000258428:Q27H	Q	-	3	2	REV1	99445490	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.506000	0.22658	1.363000	0.46019	0.655000	0.94253	CAG		0.378	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		10	134	0	0	0	1	0	10	134				
USP26	83844	broad.mit.edu	37	X	132161783	132161783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chrX:132161783G>A	ENST00000511190.1	-	6	935	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	USP26_ENST00000370832.1_Nonsense_Mutation_p.Q156*|USP26_ENST00000406273.1_Nonsense_Mutation_p.Q156*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	156					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GGCATCCTCTGAAGGACACCT	0.388																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(466-468)Cag>Tag		ubiquitin specific peptidase 26							93.0	70.0	78.0					X																	132161783		2203	4299	6502	SO:0001587	stop_gained	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161783G>A	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.466C>T	X.37:g.132161783G>A	ENSP00000423390:p.Gln156*					USP26_ENST00000406273.1_Nonsense_Mutation_p.Q156*|USP26_ENST00000370832.1_Nonsense_Mutation_p.Q156*	p.Q156*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	935	-	Acute lymphoblastic leukemia(192;0.000127)		156					B9WRT6|Q5H9H4	Nonsense_Mutation	SNP	ENST00000511190.1	37	c.466C>T	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568760	0.65765	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	.	.	.	4.13	0.289	0.15723	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	1.3964	2.8337	0.05507	0.3528:0.0:0.4304:0.2167	.	.	.	.	X	156	.	ENSP00000359869:Q156X	Q	-	1	0	USP26	131989449	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.601000	0.02081	-0.085000	0.12573	-0.322000	0.08575	CAG		0.388	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		19	49	0	0	0	1	0	19	49				
TRPS1	7227	broad.mit.edu	37	8	116616440	116616440	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:116616440T>A	ENST00000220888.5	-	3	1876	c.1717A>T	c.(1717-1719)Agc>Tgc	p.S573C	TRPS1_ENST00000395715.3_Missense_Mutation_p.S586C|TRPS1_ENST00000520276.1_Missense_Mutation_p.S577C|TRPS1_ENST00000519674.1_Missense_Mutation_p.S573C|TRPS1_ENST00000519076.1_Intron			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	573					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTCTGGGCTGCAAAGTCCT	0.448									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(1756-1758)Agc>Tgc		trichorhinophalangeal syndrome I							67.0	68.0	68.0					8																	116616440		1902	4122	6024	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616440T>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1717A>T	8.37:g.116616440T>A	ENSP00000220888:p.Ser573Cys					TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000220888.5_Missense_Mutation_p.S573C|TRPS1_ENST00000520276.1_Missense_Mutation_p.S577C|TRPS1_ENST00000519674.1_Missense_Mutation_p.S573C	p.S586C	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2333	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		573					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1756A>T		.	.	.	.	.	.	.	.	.	.	T	17.93	3.509381	0.64522	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.87	5.87	0.94306	.	0.200427	0.56097	D	0.000032	T	0.26955	0.0660	N	0.14661	0.345	0.44316	D	0.997191	D;D;D	0.76494	0.998;0.997;0.999	D;D;D	0.72338	0.966;0.926;0.977	T	0.13683	-1.0500	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	577;573;586	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	C	586;573;577;573	ENSP00000379065:S586C;ENSP00000220888:S573C;ENSP00000428680:S577C;ENSP00000429174:S573C	ENSP00000220888:S573C	S	-	1	0	TRPS1	116685615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.018000	0.70811	2.371000	0.80710	0.533000	0.62120	AGC		0.448	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		5	61	0	0	0	1	0	5	61				
HSPA13	6782	broad.mit.edu	37	21	15746494	15746494	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr21:15746494C>G	ENST00000285667.3	-	5	927	c.860G>C	c.(859-861)aGa>aCa	p.R287T	HSPA13_ENST00000544452.1_Missense_Mutation_p.R79T	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	287						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTGTCTCAATCTGTGGATTTC	0.418																																						ENST00000285667.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(859-861)aGa>aCa		heat shock protein 70kDa family, member 13							96.0	86.0	89.0					21																	15746494		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15746494C>G		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.860G>C	21.37:g.15746494C>G	ENSP00000285667:p.Arg287Thr					HSPA13_ENST00000544452.1_Missense_Mutation_p.R79T	p.R287T	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN			5	927	-			287					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.860G>C	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100039	0.56183	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.01474	4.85;4.85	5.66	4.78	0.61160	.	0.373279	0.32147	N	0.006518	T	0.05547	0.0146	M	0.85041	2.73	0.37971	D	0.933276	B	0.27910	0.193	B	0.31390	0.129	T	0.03514	-1.1029	10	0.87932	D	0	-18.0972	15.0321	0.71717	0.0:0.9313:0.0:0.0687	.	287	P48723	HSP13_HUMAN	T	287;79	ENSP00000285667:R287T;ENSP00000441986:R79T	ENSP00000285667:R287T	R	-	2	0	HSPA13	14668365	0.997000	0.39634	1.000000	0.80357	0.736000	0.42039	1.460000	0.35244	1.525000	0.49052	0.585000	0.79938	AGA		0.418	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			6	52	0	0	0	1	0	6	52				
RAVER1	125950	broad.mit.edu	37	19	10439465	10439465	+	Silent	SNP	G	G	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:10439465G>C	ENST00000293677.6	-	3	741	c.660C>G	c.(658-660)ctC>ctG	p.L220L		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	203						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			AGTGCACGTAGAGGGTGCGTG	0.637																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(658-660)ctC>ctG		ribonucleoprotein, PTB-binding 1							29.0	35.0	33.0					19																	10439465		2174	4254	6428	SO:0001819	synonymous_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10439465G>C		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.660C>G	19.37:g.10439465G>C							p.L220L	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	741	-			203					A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	c.660C>G	CCDS45960.1																																																																																				0.637	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		4	41	0	0	0	1	0	4	41				
SPG11	80208	broad.mit.edu	37	15	44864971	44864971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr15:44864971G>A	ENST00000261866.7	-	33	6269	c.6253C>T	c.(6253-6255)Cag>Tag	p.Q2085*	SPG11_ENST00000535302.2_Nonsense_Mutation_p.Q1972*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q2085*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2085					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTGGTCAGCTGAAGAAATGTC	0.468																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(6253-6255)Cag>Tag		spastic paraplegia 11 (autosomal recessive)							226.0	164.0	185.0					15																	44864971		2198	4298	6496	SO:0001587	stop_gained	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44864971G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6253C>T	15.37:g.44864971G>A	ENSP00000261866:p.Gln2085*					SPG11_ENST00000535302.2_Nonsense_Mutation_p.Q1972*|SPG11_ENST00000427534.2_Nonsense_Mutation_p.Q2085*	p.Q2085*	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	33	6269	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2085					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Nonsense_Mutation	SNP	ENST00000261866.7	37	c.6253C>T	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	46	12.798761	0.99697	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	.	.	.	5.65	4.72	0.59763	.	0.232716	0.45361	D	0.000378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	14.8384	0.70201	0.0:0.1436:0.8564:0.0	.	.	.	.	X	2085;1972;2085	.	ENSP00000261866:Q2085X	Q	-	1	0	SPG11	42652263	1.000000	0.71417	0.900000	0.35374	0.980000	0.70556	4.821000	0.62679	1.485000	0.48380	0.655000	0.94253	CAG		0.468	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			11	86	0	0	0	1	0	11	86				
SLC17A7	57030	broad.mit.edu	37	19	49935868	49935868	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:49935868A>G	ENST00000221485.3	-	9	1229	c.1058T>C	c.(1057-1059)aTc>aCc	p.I353T	SLC17A7_ENST00000543531.1_Missense_Mutation_p.I341T|SLC17A7_ENST00000600601.1_Missense_Mutation_p.I286T	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	353					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGGCACGATGATGGTCATGAC	0.662																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(1057-1059)aTc>aCc		solute carrier family 17 (vesicular glutamate transporter), member 7							31.0	31.0	31.0					19																	49935868		2203	4299	6502	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49935868A>G	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1058T>C	19.37:g.49935868A>G	ENSP00000221485:p.Ile353Thr					SLC17A7_ENST00000600601.1_Missense_Mutation_p.I286T|SLC17A7_ENST00000543531.1_Missense_Mutation_p.I341T	p.I353T	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	9	1229	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	353					B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.1058T>C	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087483	0.55968	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.61392	0.11;0.11	3.87	3.87	0.44632	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.52532	D	0.000065	T	0.64349	0.2590	M	0.81112	2.525	0.80722	D	1	B;B	0.32893	0.389;0.389	B;B	0.42163	0.292;0.378	T	0.66693	-0.5859	10	0.44086	T	0.13	.	10.953	0.47341	1.0:0.0:0.0:0.0	.	353;195	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	T	353;341	ENSP00000221485:I353T;ENSP00000441767:I341T	ENSP00000221485:I353T	I	-	2	0	SLC17A7	54627680	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.939000	0.92951	1.774000	0.52232	0.402000	0.26972	ATC		0.662	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			15	40	0	0	0	1	0	15	40				
LY75	4065	broad.mit.edu	37	2	160738665	160738665	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr2:160738665C>T	ENST00000263636.4	-	7	1243	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E406K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E406K|LY75_ENST00000553424.1_Missense_Mutation_p.E406K|LY75_ENST00000554112.1_Missense_Mutation_p.E406K	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	406	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACAACCACCTCCACATCTGCT	0.388																																						ENST00000263636.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(1216-1218)Gag>Aag		lymphocyte antigen 75							124.0	121.0	122.0					2																	160738665		2203	4300	6503	SO:0001583	missense	4065							g.chr2:160738665C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1216G>A	2.37:g.160738665C>T	ENSP00000263636:p.Glu406Lys					LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E406K|LY75_ENST00000554112.1_Missense_Mutation_p.E406K|LY75_ENST00000553424.1_Missense_Mutation_p.E406K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E406K	p.E406K	NM_002349.3	NP_002340.2				COAD - Colon adenocarcinoma(177;0.132)	7	1243	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.1216G>A	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250602	0.80135	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.32	5.32	0.75619	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.35646	N	0.003065	T	0.41259	0.1151	L	0.58302	1.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.999;1.0;0.995	T	0.14980	-1.0453	10	0.72032	D	0.01	-20.6367	18.9746	0.92730	0.0:1.0:0.0:0.0	.	24;406;406;406	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	K	406	ENSP00000451511:E406K;ENSP00000451446:E406K;ENSP00000263636:E406K;ENSP00000423463:E406K;ENSP00000421035:E406K	ENSP00000423463:E406K	E	-	1	0	LY75;LY75-CD302	160446911	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	6.056000	0.71111	2.665000	0.90641	0.650000	0.86243	GAG		0.388	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			29	125	0	0	0	1	0	29	125				
GGCT	79017	broad.mit.edu	37	7	30538517	30538517	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:30538517C>G	ENST00000275428.4	-	3	459	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q	GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000598361.1_Missense_Mutation_p.E24Q|GGCT_ENST00000409436.1_Missense_Mutation_p.E109Q	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	109					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						ACTTTAACTTCTATTACAACA	0.388																																						ENST00000275428.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(325-327)Gaa>Caa		gamma-glutamylcyclotransferase							159.0	148.0	152.0					7																	30538517		2203	4300	6503	SO:0001583	missense	79017				release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	g.chr7:30538517C>G	BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"""chromosome 7 open reading frame 24"""	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.325G>C	7.37:g.30538517C>G	ENSP00000275428:p.Glu109Gln					GGCT_ENST00000409436.1_Missense_Mutation_p.E109Q|GGCT_ENST00000598361.1_Missense_Mutation_p.E24Q|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000005374.6_Intron	p.E109Q	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN			3	459	-			109					B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Missense_Mutation	SNP	ENST00000275428.4	37	c.325G>C	CCDS5428.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609965	0.66558	.	.	ENSG00000006625	ENST00000275428;ENST00000497601;ENST00000409436	.	.	.	5.55	3.64	0.41730	Butirosin biosynthesis, BtrG-like (1);AIG2-like (1);	0.089813	0.85682	D	0.000000	T	0.42291	0.1196	N	0.24115	0.695	0.80722	D	1	P;D	0.53745	0.785;0.962	B;P	0.49192	0.264;0.602	T	0.14200	-1.0481	9	0.20046	T	0.44	-18.9861	10.7362	0.46126	0.0:0.7942:0.1321:0.0737	.	109;48	O75223;E7EU55	GGCT_HUMAN;.	Q	109;48;109	.	ENSP00000275428:E109Q	E	-	1	0	GGCT	30505042	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.600000	0.46240	1.482000	0.48325	0.650000	0.86243	GAA		0.388	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		13	91	0	0	0	1	0	13	91				
CAMK2B	816	broad.mit.edu	37	7	44302632	44302632	+	Silent	SNP	G	G	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:44302632G>T	ENST00000395749.2	-	3	268	c.192C>A	c.(190-192)atC>atA	p.I64I	CAMK2B_ENST00000346990.4_Silent_p.I64I|CAMK2B_ENST00000353625.4_Silent_p.I64I|CAMK2B_ENST00000347193.4_Silent_p.I64I|CAMK2B_ENST00000258682.6_Silent_p.I64I|CAMK2B_ENST00000395747.2_Silent_p.I64I|CAMK2B_ENST00000440254.2_Silent_p.I64I|CAMK2B_ENST00000350811.3_Silent_p.I64I|CAMK2B_ENST00000457475.1_Silent_p.I64I|CAMK2B_ENST00000358707.3_Silent_p.I64I|CAMK2B_ENST00000502837.2_De_novo_Start_InFrame	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	64	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GAAGGCGGCAGATCCGAGCCT	0.617																																						ENST00000502837.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18								calcium/calmodulin-dependent protein kinase II beta							56.0	56.0	56.0					7																	44302632		2203	4300	6503	SO:0001819	synonymous_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44302632G>T	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.192C>A	7.37:g.44302632G>T						CAMK2B_ENST00000395749.2_Silent_p.I64I|CAMK2B_ENST00000346990.4_Silent_p.I64I|CAMK2B_ENST00000258682.6_Silent_p.I64I|CAMK2B_ENST00000358707.3_Silent_p.I64I|CAMK2B_ENST00000440254.2_Silent_p.I64I|CAMK2B_ENST00000457475.1_Silent_p.I64I|CAMK2B_ENST00000353625.4_Silent_p.I64I|CAMK2B_ENST00000347193.4_Silent_p.I64I|CAMK2B_ENST00000350811.3_Silent_p.I64I|CAMK2B_ENST00000395747.2_Silent_p.I64I				Q13554	KCC2B_HUMAN			0	245	-								A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Translation_Start_Site	SNP	ENST00000395749.2	37		CCDS5483.1																																																																																				0.617	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		12	88	1	0	4.3838e-07	1	4.67824e-07	12	88				
ALDH1A2	8854	broad.mit.edu	37	15	58253454	58253454	+	Silent	SNP	C	C	T	rs267604270		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr15:58253454C>T	ENST00000249750.4	-	11	2057	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	ALDH1A2_ENST00000537372.1_Silent_p.T409T|ALDH1A2_ENST00000559517.1_Silent_p.T334T|ALDH1A2_ENST00000347587.3_Silent_p.T392T|ALDH1A2_ENST00000558231.1_Silent_p.T401T	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	430					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CTTCATCCATCGTCTTAAATC	0.408																																						ENST00000249750.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1288-1290)acG>acA		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						90.0	83.0	85.0					15																	58253454		2192	4292	6484	SO:0001819	synonymous_variant	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58253454C>T	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.1290G>A	15.37:g.58253454C>T						ALDH1A2_ENST00000347587.3_Silent_p.T392T|ALDH1A2_ENST00000559517.1_Silent_p.T334T|ALDH1A2_ENST00000537372.1_Silent_p.T409T|ALDH1A2_ENST00000558231.1_Silent_p.T401T	p.T430T	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	11	2057	-			430					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Silent	SNP	ENST00000249750.4	37	c.1290G>A	CCDS10163.1																																																																																				0.408	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			7	38	0	0	0	1	0	7	38				
FRYL	285527	broad.mit.edu	37	4	48523067	48523067	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr4:48523067C>T	ENST00000503238.1	-	52	7686	c.7687G>A	c.(7687-7689)Gag>Aag	p.E2563K	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.E2563K|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.E2563K			O94915	FRYL_HUMAN	FRY-like	2563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTCCCCACCTCAGGCAGCCGG	0.468																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7687-7689)Gag>Aag		FRY-like							59.0	59.0	59.0					4																	48523067		1833	4095	5928	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48523067C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7687G>A	4.37:g.48523067C>T	ENSP00000426064:p.Glu2563Lys					FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E2563K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2563K	p.E2563K			O94915	FRYL_HUMAN			55	8291	-			2563					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7687G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456152	0.96223	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810	T;T;T	0.24350	1.88;1.88;1.86	5.61	5.61	0.85477	.	0.111088	0.64402	D	0.000012	T	0.54398	0.1856	M	0.77820	2.39	0.80722	D	1	D;B;B	0.69078	0.997;0.091;0.086	D;B;B	0.73380	0.98;0.045;0.124	T	0.52411	-0.8579	10	0.45353	T	0.12	.	19.6323	0.95713	0.0:1.0:0.0:0.0	.	1393;2563;2563	Q6ZR29;O94915;F5GX82	.;FRYL_HUMAN;.	K	2563	ENSP00000426064:E2563K;ENSP00000351113:E2563K;ENSP00000441114:E2563K	ENSP00000351113:E2563K	E	-	1	0	FRYL	48217824	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.487000	0.81328	2.646000	0.89796	0.563000	0.77884	GAG		0.468	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			7	54	0	0	0	1	0	7	54				
DDIT4	54541	broad.mit.edu	37	10	74034832	74034832	+	Silent	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr10:74034832C>T	ENST00000307365.3	+	3	786	c.585C>T	c.(583-585)tcC>tcT	p.S195S	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	195					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TGTTTAGCTCCGCCAACTCTC	0.617											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000307365.3																			0				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(583-585)tcC>tcT		DNA-damage-inducible transcript 4							27.0	28.0	28.0					10																	74034832		2203	4300	6503	SO:0001819	synonymous_variant	54541				apoptosis			g.chr10:74034832C>T	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.585C>T	10.37:g.74034832C>T			OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149	RP11-442H21.2_ENST00000491934.2_RNA	p.S195S	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN			3	786	+			195					Q9H0S3	Silent	SNP	ENST00000307365.3	37	c.585C>T	CCDS7315.1																																																																																				0.617	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		4	38	0	0	0	1	0	4	38				
KCNS2	3788	broad.mit.edu	37	8	99440359	99440359	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:99440359C>G	ENST00000287042.4	+	2	502	c.152C>G	c.(151-153)tCg>tGg	p.S51W	KCNS2_ENST00000521839.1_Missense_Mutation_p.S51W	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	51					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTCTGCCACTCGCGCGAGGCC	0.637																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(151-153)tCg>tGg		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							67.0	59.0	62.0					8																	99440359		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440359C>G	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.152C>G	8.37:g.99440359C>G	ENSP00000287042:p.Ser51Trp					KCNS2_ENST00000521839.1_Missense_Mutation_p.S51W	p.S51W	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	502	+	Breast(36;2.4e-06)		51					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.152C>G	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.401918	0.83120	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96856	-4.15;-4.15	5.4	5.4	0.78164	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000001	D	0.98560	0.9519	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99597	1.0977	10	0.87932	D	0	.	18.7928	0.91982	0.0:1.0:0.0:0.0	.	51	Q9ULS6	KCNS2_HUMAN	W	51	ENSP00000287042:S51W;ENSP00000430712:S51W	ENSP00000287042:S51W	S	+	2	0	KCNS2	99509535	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.523000	0.85059	0.558000	0.71614	TCG		0.637	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		14	108	0	0	0	1	0	14	108				
LYST	1130	broad.mit.edu	37	1	235887339	235887339	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:235887339C>G	ENST00000389794.3	-	39	9478	c.9304G>C	c.(9304-9306)Gat>Cat	p.D3102H	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.D3102H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3102					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTGGTGTTATCAAATGCCAAC	0.343																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(9304-9306)Gat>Cat		lysosomal trafficking regulator							95.0	93.0	94.0					1																	235887339		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235887339C>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9304G>C	1.37:g.235887339C>G	ENSP00000374444:p.Asp3102His					LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.D3102H	p.D3102H			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		39	9478	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3102					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.9304G>C	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449648	0.84101	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62639	0.01;0.01	5.23	5.23	0.72850	PH-BEACH domain (1);	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	N	0.10916	0.065	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73534	-0.3952	10	0.66056	D	0.02	.	19.1565	0.93511	0.0:1.0:0.0:0.0	.	3102	Q99698	LYST_HUMAN	H	3102	ENSP00000374444:D3102H;ENSP00000374443:D3102H	ENSP00000374443:D3102H	D	-	1	0	LYST	233953962	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.776000	0.85560	2.597000	0.87782	0.460000	0.39030	GAT		0.343	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			5	77	0	0	0	1	0	5	77				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		21	55	0	0	0	1	0	21	55				
HPDL	84842	broad.mit.edu	37	1	45793409	45793409	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:45793409C>G	ENST00000334815.3	+	1	865	c.589C>G	c.(589-591)Ccc>Gcc	p.P197A		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	197					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGGTGAGGATCCCGAGCTGGG	0.642																																						ENST00000334815.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(589-591)Ccc>Gcc		4-hydroxyphenylpyruvate dioxygenase-like							31.0	33.0	32.0					1																	45793409		2203	4299	6502	SO:0001583	missense	84842				aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr1:45793409C>G	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"""glyoxalase domain containing 1"""	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.589C>G	1.37:g.45793409C>G	ENSP00000335060:p.Pro197Ala						p.P197A	NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN			1	865	+	Acute lymphoblastic leukemia(166;0.155)		197					B2R9B0	Missense_Mutation	SNP	ENST00000334815.3	37	c.589C>G	CCDS519.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480681	0.26598	.	.	ENSG00000186603	ENST00000334815	T	0.57752	0.38	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000003	T	0.60612	0.2282	M	0.69823	2.125	0.39784	D	0.972344	P	0.41313	0.745	P	0.46076	0.503	T	0.65857	-0.6066	10	0.56958	D	0.05	-35.2041	15.3355	0.74250	0.0:0.8602:0.1398:0.0	.	197	Q96IR7	HPDL_HUMAN	A	197	ENSP00000335060:P197A	ENSP00000335060:P197A	P	+	1	0	HPDL	45565996	0.962000	0.33011	1.000000	0.80357	0.814000	0.46013	1.379000	0.34340	2.712000	0.92718	0.561000	0.74099	CCC		0.642	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020527.1	NM_032756		11	99	0	0	0	1	0	11	99				
IPO9	55705	broad.mit.edu	37	1	201843979	201843979	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:201843979G>C	ENST00000361565.4	+	22	2922	c.2853G>C	c.(2851-2853)tgG>tgC	p.W951C		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	951					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATGATATGTGggaggaccagg	0.438																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2851-2853)tgG>tgC		importin 9							119.0	120.0	119.0					1																	201843979		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843979G>C	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2853G>C	1.37:g.201843979G>C	ENSP00000354742:p.Trp951Cys						p.W951C	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2922	+			951					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.2853G>C	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121109	0.56613	.	.	ENSG00000198700	ENST00000361565;ENST00000456707	T	0.66815	-0.23	5.95	5.03	0.67393	Armadillo-type fold (1);	0.103088	0.64402	D	0.000001	T	0.59636	0.2208	N	0.24115	0.695	0.80722	D	1	D	0.54047	0.964	P	0.47626	0.552	T	0.63972	-0.6516	10	0.54805	T	0.06	.	14.2833	0.66228	0.0:0.0:0.85:0.15	.	951	Q96P70	IPO9_HUMAN	C	951;26	ENSP00000354742:W951C	ENSP00000354742:W951C	W	+	3	0	IPO9	200110602	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.632000	0.74281	1.507000	0.48752	-0.181000	0.13052	TGG		0.438	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		16	153	0	0	0	1	0	16	153				
ZKSCAN4	387032	broad.mit.edu	37	6	28213044	28213044	+	Silent	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr6:28213044G>A	ENST00000377294.2	-	5	1731	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	ZKSCAN4_ENST00000423974.2_Silent_p.F341F	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	496					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TATTCCGTGTGAAACTTCTCT	0.453																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1486-1488)ttC>ttT		zinc finger with KRAB and SCAN domains 4							119.0	117.0	118.0					6																	28213044		2203	4300	6503	SO:0001819	synonymous_variant	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28213044G>A	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1488C>T	6.37:g.28213044G>A						ZKSCAN4_ENST00000423974.2_Silent_p.F341F	p.F496F	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			5	1731	-			496					B2RE32|Q5U7L4	Silent	SNP	ENST00000377294.2	37	c.1488C>T	CCDS4647.1																																																																																				0.453	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		17	93	0	0	0	1	0	17	93				
KCNH4	23415	broad.mit.edu	37	17	40321507	40321507	+	Silent	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr17:40321507G>A	ENST00000264661.3	-	9	1910	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	KCNH4_ENST00000607371.1_Silent_p.I526I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	526					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CGTTGGCGTCGATGCCGCTGT	0.637																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(1576-1578)atC>atT		potassium voltage-gated channel, subfamily H (eag-related), member 4							68.0	66.0	67.0					17																	40321507		2203	4300	6503	SO:0001819	synonymous_variant	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40321507G>A	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1578C>T	17.37:g.40321507G>A						KCNH4_ENST00000607371.1_Silent_p.I526I	p.I526I	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1910	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	526						Silent	SNP	ENST00000264661.3	37	c.1578C>T	CCDS11420.1																																																																																				0.637	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		27	50	0	0	0	1	0	27	50				
TMEM192	201931	broad.mit.edu	37	4	166000862	166000862	+	Missense_Mutation	SNP	C	C	T	rs556977126		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr4:166000862C>T	ENST00000306480.6	-	6	909	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	TMEM192_ENST00000506087.1_Missense_Mutation_p.R251Q	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	255						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		AGCCAACAATCGCTTACTCAG	0.463																																						ENST00000306480.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(763-765)cGa>cAa		transmembrane protein 192							106.0	102.0	103.0					4																	166000862		1956	4152	6108	SO:0001583	missense	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166000862C>T	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.764G>A	4.37:g.166000862C>T	ENSP00000305069:p.Arg255Gln					TMEM192_ENST00000506087.1_Missense_Mutation_p.R251Q	p.R255Q	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	6	909	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	255					Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	37	c.764G>A	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.040335	0.35989	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.97	5.97	0.96955	.	0.053862	0.64402	D	0.000001	T	0.47728	0.1461	M	0.62723	1.935	0.40649	D	0.982018	D	0.55800	0.973	B	0.39935	0.314	T	0.53129	-0.8482	9	0.42905	T	0.14	-36.0273	11.2118	0.48804	0.0:0.9174:0.0:0.0826	.	255	Q8IY95	TM192_HUMAN	Q	255;251	.	ENSP00000305069:R255Q	R	-	2	0	TMEM192	166220312	0.973000	0.33851	0.144000	0.22314	0.009000	0.06853	2.305000	0.43664	2.835000	0.97688	0.591000	0.81541	CGA		0.463	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		7	36	0	0	0	1	0	7	36				
ANO7	50636	broad.mit.edu	37	2	242157786	242157786	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr2:242157786C>A	ENST00000274979.8	+	21	2576	c.2473C>A	c.(2473-2475)Cgc>Agc	p.R825S	ANO7_ENST00000402430.3_Missense_Mutation_p.R824S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	825					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGCGCACAACCGCACGTGCAG	0.776																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(2473-2475)Cgc>Agc		anoctamin 7							4.0	4.0	4.0					2																	242157786		2002	3962	5964	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242157786C>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.2473C>A	2.37:g.242157786C>A	ENSP00000274979:p.Arg825Ser					ANO7_ENST00000402430.3_Missense_Mutation_p.R824S	p.R825S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			21	2576	+			825					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.2473C>A	CCDS33423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.856|2.856	-0.237122|-0.237122	0.05944|0.05944	.|.	.|.	ENSG00000146205|ENSG00000146205	ENST00000451047|ENST00000274979;ENST00000402430	.|T;T	.|0.69685	.|-0.3;-0.42	2.62|2.62	2.62|2.62	0.31277|0.31277	.|.	.|0.909930	.|0.09165	.|U	.|0.839718	T|T	0.43344|0.43344	0.1243|0.1243	N|N	0.17082|0.17082	0.46|0.46	0.28818|0.28818	N|N	0.897852|0.897852	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.37056|0.37056	-0.9722|-0.9722	5|10	.|0.09590	.|T	.|0.72	.|.	4.2556|4.2556	0.10715|0.10715	0.0:0.6133:0.2419:0.1448|0.0:0.6133:0.2419:0.1448	.|.	.|825	.|Q6IWH7	.|ANO7_HUMAN	Q|S	137|825;824	.|ENSP00000274979:R825S;ENSP00000385418:R824S	.|ENSP00000274979:R825S	P|R	+|+	2|1	0|0	ANO7|ANO7	241806459|241806459	0.019000|0.019000	0.18553|0.18553	0.996000|0.996000	0.52242|0.52242	0.059000|0.059000	0.15707|0.15707	0.105000|0.105000	0.15333|0.15333	1.146000|1.146000	0.42352|0.42352	0.305000|0.305000	0.20034|0.20034	CCG|CGC		0.776	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		2	5	1	0	0.0784	1	0.0789521	2	5				
SMG8	55181	broad.mit.edu	37	17	57288927	57288927	+	Silent	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr17:57288927C>T	ENST00000543872.2	+	2	1779	c.1515C>T	c.(1513-1515)ccC>ccT	p.P505P	SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.P505P|SMG8_ENST00000578922.1_Silent_p.P505P			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	505					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AAGCTTTACCCATGGCCCACA	0.403																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(1513-1515)ccC>ccT		SMG8 nonsense mediated mRNA decay factor							85.0	78.0	80.0					17																	57288927		2203	4300	6503	SO:0001819	synonymous_variant	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288927C>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1515C>T	17.37:g.57288927C>T						SMG8_ENST00000578922.1_Silent_p.P505P|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.P505P|SMG8_ENST00000580498.1_Intron	p.P505P			Q8ND04	SMG8_HUMAN			2	1779	+			505					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	ENST00000543872.2	37	c.1515C>T	CCDS11615.1																																																																																				0.403	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		11	64	0	0	0	1	0	11	64				
PSMD7	5713	broad.mit.edu	37	16	74336136	74336136	+	Silent	SNP	G	G	A	rs541071308		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:74336136G>A	ENST00000219313.4	+	5	524	c.384G>A	c.(382-384)ccG>ccA	p.P128P	PSMD7_ENST00000540379.1_Silent_p.P51P|PSMD7_ENST00000567958.1_Silent_p.P128P|AC009120.6_ENST00000566411.1_RNA|PSMD7_ENST00000568615.2_Silent_p.P128P	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						ATGTGAAGCCGAAGGACCTAG	0.458													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19721	0.0		0.0	False		,,,				2504	0.0					ENST00000219313.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						c.(382-384)ccG>ccA		proteasome (prosome, macropain) 26S subunit, non-ATPase, 7							170.0	150.0	157.0					16																	74336136		2198	4300	6498	SO:0001819	synonymous_variant	5713				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr16:74336136G>A	D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"""Proteasome (prosome, macropain) subunits"""	9565	protein-coding gene	gene with protein product	"""Mov34 homolog"""	157970	"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"""			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.384G>A	16.37:g.74336136G>A						PSMD7_ENST00000568615.2_Silent_p.P128P|PSMD7_ENST00000540379.1_Silent_p.P51P|PSMD7_ENST00000567958.1_Silent_p.P128P	p.P128P	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN			5	524	+			128					D3DWS9|Q6PKI2|Q96E97	Silent	SNP	ENST00000219313.4	37	c.384G>A	CCDS10910.1																																																																																				0.458	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2	NM_002811		11	88	0	0	0	1	0	11	88				
NDUFA7	4701	broad.mit.edu	37	19	8381393	8381393	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:8381393T>G	ENST00000301457.2	-	3	275	c.238A>C	c.(238-240)Aag>Cag	p.K80Q	NDUFA7_ENST00000598884.1_Missense_Mutation_p.K80Q	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	80					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						TCTGCTGGCTTGCCTGACACC	0.592																																						ENST00000301457.2																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						c.(238-240)Aag>Cag		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	NADH(DB00157)						70.0	76.0	74.0					19																	8381393		2097	4230	6327	SO:0001583	missense	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8381393T>G	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.238A>C	19.37:g.8381393T>G	ENSP00000301457:p.Lys80Gln					NDUFA7_ENST00000598884.1_Missense_Mutation_p.K80Q	p.K80Q	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN			3	275	-			80						Missense_Mutation	SNP	ENST00000301457.2	37	c.238A>C	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	T	8.613	0.889608	0.17540	.	.	ENSG00000167774	ENST00000301457	T	0.50548	0.74	5.44	4.36	0.52297	.	0.503947	0.22589	N	0.058113	T	0.30634	0.0771	N	0.19112	0.55	0.29592	N	0.848339	B	0.22146	0.065	B	0.21917	0.037	T	0.14392	-1.0474	10	0.19590	T	0.45	-16.6775	11.1721	0.48577	0.0:0.0:0.2624:0.7376	.	80	O95182	NDUA7_HUMAN	Q	80	ENSP00000301457:K80Q	ENSP00000301457:K80Q	K	-	1	0	NDUFA7	8287393	0.873000	0.30073	0.975000	0.42487	0.194000	0.23727	0.903000	0.28475	2.194000	0.70268	0.459000	0.35465	AAG		0.592	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001		11	147	0	0	0	1	0	11	147				
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716																																						ENST00000300131.3																			1	Substitution - Missense(1)	p.F208L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(622-624)Ttc>Ctc		NGFI-A binding protein 2 (EGR1 binding protein 2)							12.0	17.0	15.0					12																	57485446		2196	4277	6473	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485446T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.622T>C	12.37:g.57485446T>C	ENSP00000300131:p.Phe208Leu					NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L	p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1000	+			208					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.622T>C	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473597	0.26423	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.15	4.15	0.48705	NAB co-repressor, domain (1);	0.441905	0.22768	N	0.055868	T	0.21801	0.0525	N	0.11427	0.14	0.33270	D	0.560932	P	0.43826	0.818	B	0.41466	0.358	T	0.14392	-1.0474	9	0.10902	T	0.67	-12.462	9.5058	0.39046	0.0:0.0:0.0:1.0	.	208	Q15742	NAB2_HUMAN	L	208	.	ENSP00000300131:F208L	F	+	1	0	NAB2	55771713	0.994000	0.37717	0.852000	0.33557	0.975000	0.68041	0.652000	0.24888	1.732000	0.51606	0.379000	0.24179	TTC		0.716	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		7	45	0	0	0	1	0	7	45				
CLMN	79789	broad.mit.edu	37	14	95677084	95677084	+	Silent	SNP	T	T	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr14:95677084T>C	ENST00000298912.4	-	7	854	c.741A>G	c.(739-741)ctA>ctG	p.L247L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	247	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AAGCCTTCTCTAGATTTTCTC	0.512																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(739-741)ctA>ctG		calmin (calponin-like, transmembrane)							153.0	148.0	149.0					14																	95677084		2203	4300	6503	SO:0001819	synonymous_variant	79789					integral to membrane	actin binding	g.chr14:95677084T>C	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.741A>G	14.37:g.95677084T>C							p.L247L	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	7	854	-			247			Actin-binding.|CH 2.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Silent	SNP	ENST00000298912.4	37	c.741A>G	CCDS9933.1																																																																																				0.512	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			82	142	0	0	0	1	0	82	142				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	27	0	0	0	1	0	3	27				
ARHGEF17	9828	broad.mit.edu	37	11	73021165	73021165	+	Silent	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr11:73021165C>T	ENST00000263674.3	+	1	1832	c.1482C>T	c.(1480-1482)tcC>tcT	p.S494S	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	494					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						GTGGGAGCTCCGGGGACCGTG	0.597																																						ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1480-1482)tcC>tcT		Rho guanine nucleotide exchange factor (GEF) 17							53.0	61.0	58.0					11																	73021165		2200	4293	6493	SO:0001819	synonymous_variant	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.chr11:73021165C>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.1482C>T	11.37:g.73021165C>T							p.S494S	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			1	1832	+			494					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.1482C>T	CCDS8221.1																																																																																				0.597	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		16	84	0	0	0	1	0	16	84				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						ENST00000393409.2																			4	Substitution - coding silent(4)	p.G13G(4)	lung(2)|kidney(2)	breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(106-108)ggT>ggG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G						PLXNA1_ENST00000251772.4_Silent_p.G13G	p.G36G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	108	+			36			Sema.			Silent	SNP	ENST00000393409.2	37	c.108T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		12	38	0	0	0	1	0	12	38				
FER1L6	654463	broad.mit.edu	37	8	125022933	125022933	+	Silent	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:125022933G>A	ENST00000522917.1	+	14	2006	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L600L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	600						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAACATGCTGGAGAAAATGG	0.473																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(1798-1800)ctG>ctA		fer-1-like 6 (C. elegans)							180.0	174.0	176.0					8																	125022933		2081	4243	6324	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125022933G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1800G>A	8.37:g.125022933G>A						FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L600L	p.L600L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		14	2006	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		600						Silent	SNP	ENST00000522917.1	37	c.1800G>A	CCDS43767.1																																																																																				0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		49	157	0	0	0	1	0	49	157				
PARP10	84875	broad.mit.edu	37	8	145060266	145060266	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:145060266C>G	ENST00000313028.7	-	2	232	c.138G>C	c.(136-138)caG>caC	p.Q46H	PARP10_ENST00000524918.1_Missense_Mutation_p.Q46H|PARP10_ENST00000525773.1_Missense_Mutation_p.Q58H|PARP10_ENST00000533665.1_Intron	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	46					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCCAGTCTCTGCCAGCTCA	0.622																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(136-138)caG>caC		poly (ADP-ribose) polymerase family, member 10							46.0	50.0	49.0					8																	145060266		2203	4300	6503	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145060266C>G	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.138G>C	8.37:g.145060266C>G	ENSP00000325618:p.Gln46His					PARP10_ENST00000533665.1_Intron|PARP10_ENST00000524918.1_Missense_Mutation_p.Q46H|PARP10_ENST00000525773.1_Missense_Mutation_p.Q58H	p.Q46H	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	232	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		46					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.138G>C	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335483	0.81801	.	.	ENSG00000178685	ENST00000524918;ENST00000313028;ENST00000525773;ENST00000313059;ENST00000525879;ENST00000528625;ENST00000525486;ENST00000531537;ENST00000529842;ENST00000528914;ENST00000528136;ENST00000529311;ENST00000530478;ENST00000532311;ENST00000531707	T;T;T;T;T;T;T;T;T;T;T;T	0.33654	3.39;3.39;3.39;1.4;3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39	4.36	4.36	0.52297	Nucleotide-binding, alpha-beta plait (1);	0.313831	0.23656	N	0.045862	T	0.46698	0.1406	L	0.48362	1.52	0.33612	D	0.603723	D;D;D	0.61080	0.978;0.989;0.978	P;P;P	0.59012	0.753;0.85;0.753	T	0.59721	-0.7401	10	0.52906	T	0.07	.	12.3134	0.54942	0.0:1.0:0.0:0.0	.	58;46;46	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	H	46;46;58;46;46;46;46;46;46;46;46;46;46;46;46	ENSP00000431620:Q46H;ENSP00000325618:Q46H;ENSP00000434776:Q58H;ENSP00000314320:Q46H;ENSP00000436301:Q46H;ENSP00000431818:Q46H;ENSP00000435793:Q46H;ENSP00000432204:Q46H;ENSP00000436697:Q46H;ENSP00000434005:Q46H;ENSP00000431250:Q46H;ENSP00000434411:Q46H	ENSP00000325618:Q46H	Q	-	3	2	PARP10	145132254	0.000000	0.05858	0.997000	0.53966	0.763000	0.43281	0.233000	0.17911	2.262000	0.75019	0.645000	0.84053	CAG		0.622	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		21	111	0	0	0	1	0	21	111				
FAM46B	115572	broad.mit.edu	37	1	27333107	27333107	+	Silent	SNP	G	G	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:27333107G>C	ENST00000289166.5	-	2	771	c.606C>G	c.(604-606)ctC>ctG	p.L202L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	202										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAAACTTGAGCTCCACGT	0.542																																						ENST00000289166.5																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(604-606)ctC>ctG		family with sequence similarity 46, member B							125.0	121.0	123.0					1																	27333107		2203	4300	6503	SO:0001819	synonymous_variant	115572							g.chr1:27333107G>C	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.606C>G	1.37:g.27333107G>C							p.L202L	NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	771	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	202						Silent	SNP	ENST00000289166.5	37	c.606C>G	CCDS294.2																																																																																				0.542	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2	NM_052943		19	132	0	0	0	1	0	19	132				
GRIN2A	2903	broad.mit.edu	37	16	9858772	9858772	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:9858772C>T	ENST00000396573.2	-	14	2938	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.E877K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E877K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E877K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E720K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E877K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	877					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCTTTTCTTCAATGTGCACT	0.468																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2629-2631)Gaa>Aaa		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						115.0	107.0	109.0					16																	9858772		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858772C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2629G>A	16.37:g.9858772C>T	ENSP00000379818:p.Glu877Lys					GRIN2A_ENST00000396575.2_Missense_Mutation_p.E877K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E877K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E877K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E720K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E877K	p.E877K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	2938	-			877					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2629G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378134	0.82682	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.13538	2.58;2.61;2.62;2.58;2.58	5.52	5.52	0.82312	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.043793	0.85682	D	0.000000	T	0.39118	0.1066	M	0.74881	2.28	0.58432	D	0.999992	D;D;P	0.61697	0.967;0.99;0.77	D;D;B	0.70487	0.911;0.969;0.396	T	0.05517	-1.0880	9	.	.	.	.	18.4623	0.90743	0.0:1.0:0.0:0.0	.	720;877;877	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	K	877;877;720;877;877	ENSP00000379818:E877K;ENSP00000385872:E877K;ENSP00000441572:E720K;ENSP00000332549:E877K;ENSP00000379820:E877K	.	E	-	1	0	GRIN2A	9766273	1.000000	0.71417	0.982000	0.44146	0.983000	0.72400	7.395000	0.79876	2.595000	0.87683	0.655000	0.94253	GAA		0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			38	95	0	0	0	1	0	38	95				
KRT25	147183	broad.mit.edu	37	17	38907519	38907519	+	Silent	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr17:38907519G>A	ENST00000312150.4	-	4	789	c.729C>T	c.(727-729)gcC>gcT	p.A243A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCACCCCGGGGGCTGCGTTCA	0.572																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(727-729)gcC>gcT		keratin 25							88.0	79.0	82.0					17																	38907519		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907519G>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.729C>T	17.37:g.38907519G>A							p.A243A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			4	789	-		Breast(137;0.00526)	243			Linker 12.|Rod.			Silent	SNP	ENST00000312150.4	37	c.729C>T	CCDS11373.1																																																																																				0.572	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		29	75	0	0	0	1	0	29	75				
SLC50A1	55974	broad.mit.edu	37	1	155110531	155110531	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:155110531C>G	ENST00000368404.4	+	5	583	c.521C>G	c.(520-522)tCc>tGc	p.S174C	SLC50A1_ENST00000368401.5_Missense_Mutation_p.S119C|SLC50A1_ENST00000484157.1_Missense_Mutation_p.S109C|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S120C|SLC50A1_ENST00000368405.3_3'UTR	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	174	Mediates interaction with TRPV2. {ECO:0000250}.|MtN3/slv 2.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						ACCTCTGCCTCCTGGTGCCTC	0.502																																						ENST00000368404.4																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(520-522)tCc>tGc		solute carrier family 50 (sugar efflux transporter), member 1							172.0	150.0	158.0					1																	155110531		2203	4300	6503	SO:0001583	missense	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155110531C>G	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.521C>G	1.37:g.155110531C>G	ENSP00000357389:p.Ser174Cys					SLC50A1_ENST00000484157.1_Missense_Mutation_p.S109C|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000368401.5_Missense_Mutation_p.S119C|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S120C	p.S174C	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN			5	583	+			174			Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.		Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Missense_Mutation	SNP	ENST00000368404.4	37	c.521C>G	CCDS1093.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724363	0.48728	.	.	ENSG00000169241	ENST00000484157;ENST00000303343;ENST00000368404;ENST00000368401	.	.	.	4.97	4.03	0.46877	.	0.051961	0.85682	N	0.000000	T	0.48314	0.1493	M	0.76433	2.335	0.51767	D	0.999938	P;B;B	0.39737	0.685;0.39;0.444	B;B;B	0.43052	0.406;0.34;0.261	T	0.51044	-0.8755	9	0.33141	T	0.24	-10.5073	12.8259	0.57718	0.0:0.7899:0.2101:0.0	.	120;119;174	Q9BRV3-3;Q9BRV3-2;Q9BRV3	.;.;SWET1_HUMAN	C	109;120;174;119	.	ENSP00000306146:S120C	S	+	2	0	SLC50A1	153377155	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	3.587000	0.53957	1.353000	0.45828	0.655000	0.94253	TCC		0.502	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		10	138	0	0	0	1	0	10	138				
HLA-DPB1	3115	broad.mit.edu	37	6	33052895	33052895	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr6:33052895G>C	ENST00000418931.2	+	3	649	c.533G>C	c.(532-534)gGa>gCa	p.G178A		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	178	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						ATCCGTAATGGAGACTGGACC	0.557																																						ENST00000418931.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						c.(532-534)gGa>gCa		major histocompatibility complex, class II, DP beta 1							129.0	121.0	124.0					6																	33052895		1511	2709	4220	SO:0001583	missense	3115				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex		g.chr6:33052895G>C		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.533G>C	6.37:g.33052895G>C	ENSP00000408146:p.Gly178Ala						p.G178A	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN			3	649	+			178			Beta-2.|Ig-like C1-type.		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	c.533G>C	CCDS4765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.45|16.45	3.125446|3.125446	0.56721|0.56721	.|.	.|.	ENSG00000223865|ENSG00000223865	ENST00000416804|ENST00000418931;ENST00000411942;ENST00000428835	.|T;T	.|0.00628	.|6.11;6.11	4.04|4.04	3.16|3.16	0.36331|0.36331	.|Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.01627|0.01627	0.0052|0.0052	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.50021|0.50021	-0.8876|-0.8876	5|10	.|0.87932	.|D	.|0	.|.	9.884|9.884	0.41251|0.41251	0.1029:0.0:0.8971:0.0|0.1029:0.0:0.8971:0.0	.|.	.|144;188;178	.|A2ALJ6;Q59GY1;P04440	.|.;.;DPB1_HUMAN	Q|A	145|178;148;155	.|ENSP00000408146:G178A;ENSP00000412654:G155A	.|ENSP00000389210:G148A	E|G	+|+	1|2	0|0	HLA-DPB1|HLA-DPB1	33160873|33160873	1.000000|1.000000	0.71417|0.71417	0.211000|0.211000	0.23655|0.23655	0.866000|0.866000	0.49608|0.49608	3.802000|3.802000	0.55553|0.55553	1.050000|1.050000	0.40346|0.40346	0.544000|0.544000	0.68410|0.68410	GAG|GGA		0.557	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		20	127	0	0	0	1	0	20	127				
TG	7038	broad.mit.edu	37	8	133900464	133900464	+	Silent	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:133900464G>A	ENST00000220616.4	+	10	2452	c.2412G>A	c.(2410-2412)gtG>gtA	p.V804V	TG_ENST00000377869.1_Silent_p.V804V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	804	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCTGCTAGTGAAGATCATGA	0.522																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2410-2412)gtG>gtA		thyroglobulin							72.0	66.0	68.0					8																	133900464		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900464G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2412G>A	8.37:g.133900464G>A						TG_ENST00000377869.1_Silent_p.V804V	p.V804V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2452	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	804			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.2412G>A	CCDS34944.1																																																																																				0.522	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	54	0	0	0	1	0	10	54				
RYR1	6261	broad.mit.edu	37	19	38983246	38983246	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:38983246G>A	ENST00000359596.3	+	38	6244	c.6244G>A	c.(6244-6246)Gag>Aag	p.E2082K	RYR1_ENST00000360985.3_Missense_Mutation_p.E2082K|RYR1_ENST00000355481.4_Missense_Mutation_p.E2082K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2082	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAAACCTGAGGAGGAGCGGTC	0.632																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(6244-6246)Gag>Aag		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						48.0	44.0	45.0					19																	38983246		2202	4300	6502	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38983246G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6244G>A	19.37:g.38983246G>A	ENSP00000352608:p.Glu2082Lys					RYR1_ENST00000359596.3_Missense_Mutation_p.E2082K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2082K	p.E2082K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		38	6375	+	all_cancers(60;7.91e-06)		2082			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.6244G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	10.78	1.447342	0.25987	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.71579	-0.58;-0.58;-0.58	5.05	5.05	0.67936	.	0.609449	0.13007	U	0.421191	T	0.60907	0.2305	L	0.46157	1.445	0.33088	D	0.537604	B;P	0.34699	0.003;0.464	B;B	0.31614	0.005;0.133	T	0.63712	-0.6575	10	0.16420	T	0.52	.	11.5863	0.50920	0.0878:0.0:0.9122:0.0	.	2082;2082	P21817-2;P21817	.;RYR1_HUMAN	K	2082	ENSP00000352608:E2082K;ENSP00000347667:E2082K;ENSP00000354254:E2082K	ENSP00000347667:E2082K	E	+	1	0	RYR1	43675086	1.000000	0.71417	0.998000	0.56505	0.074000	0.17049	3.331000	0.52075	2.349000	0.79799	0.539000	0.68188	GAG		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	49	0	0	0	1	0	9	49				
SLCO1C1	53919	broad.mit.edu	37	12	20903757	20903757	+	Intron	SNP	T	T	C	rs10841611	byFrequency	TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr12:20903757T>C	ENST00000266509.2	+	14	2284				SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000381552.1_Silent_p.H649H|SLCO1C1_ENST00000545604.1_Silent_p.H649H|SLCO1C1_ENST00000545102.1_Silent_p.H531H	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.H649H(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCGCATCTCATTGCTACAGCA	0.378													C|||	2391	0.477436	0.1952	0.5735	5008	,	,		16607	0.5913		0.504	False		,,,				2504	0.6462					ENST00000381552.1																			1	Substitution - coding silent(1)	p.H649H(1)	kidney(1)	NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1945-1947)caT>caC		solute carrier organic anion transporter family, member 1C1		C	,,,	1072,3334	722.3+/-409.3	137,798,1268	115.0	105.0	108.0		1593,,1947,	0.4	0.0	12	dbSNP_120	108	4722,3878	544.0+/-384.5	1285,2152,863	no	coding-synonymous,intron,coding-synonymous,intron	SLCO1C1	NM_001145944.1,NM_001145945.1,NM_001145946.1,NM_017435.4	,,,	1422,2950,2131	CC,CT,TT		45.093,24.3305,44.5487	,,,	531/613,,649/731,	20903757	5794,7212	2203	4300	6503	SO:0001627	intron_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20903757T>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1916+31T>C	12.37:g.20903757T>C						SLCO1C1_ENST00000266509.2_Intron|SLCO1C1_ENST00000545604.1_Silent_p.H649H|SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000540354.1_Intron	p.H649H			Q9NYB5	SO1C1_HUMAN			14	2315	+	Esophageal squamous(101;0.149)		0					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1947T>C	CCDS8683.1																																																																																				0.378	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		5	57	0	0	0	1	0	5	57				
KDM2B	84678	broad.mit.edu	37	12	121958892	121958892	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr12:121958892C>G	ENST00000377071.4	-	9	1015	c.943G>C	c.(943-945)Gcc>Ccc	p.A315P	KDM2B_ENST00000377069.4_Missense_Mutation_p.A284P|KDM2B_ENST00000536437.1_Missense_Mutation_p.A198P|KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000543852.1_Missense_Mutation_p.A84P	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	315	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTGTAGACGGCATGGATCCAA	0.612																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(850-852)Gcc>Ccc		lysine (K)-specific demethylase 2B							64.0	67.0	66.0					12																	121958892		2084	4212	6296	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121958892C>G	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.943G>C	12.37:g.121958892C>G	ENSP00000366271:p.Ala315Pro					KDM2B_ENST00000543852.1_Missense_Mutation_p.A84P|KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.A315P|KDM2B_ENST00000536437.1_Missense_Mutation_p.A198P	p.A284P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			9	1256	-			315			JmjC.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.850G>C	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400060	0.96030	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000542030;ENST00000538379;ENST00000545022;ENST00000543852;ENST00000541511	T;T;T;T;T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	5.87	5.87	0.94306	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.64402	D	0.000009	D	0.89104	0.6620	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.90947	0.4802	10	0.87932	D	0	-17.4679	20.2079	0.98282	0.0:1.0:0.0:0.0	.	198;315;284	Q1RLM7;Q8NHM5;A8MRS1	.;KDM2B_HUMAN;.	P	315;284;315;198;315;315;278;17;84;84;84;84	ENSP00000366269:A284P;ENSP00000366271:A315P;ENSP00000445196:A198P;ENSP00000398279:A278P;ENSP00000444846:A17P;ENSP00000445102:A84P;ENSP00000437497:A84P;ENSP00000440942:A84P;ENSP00000442293:A84P	ENSP00000261824:A315P	A	-	1	0	KDM2B	120443275	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	7.487000	0.81328	2.781000	0.95711	0.655000	0.94253	GCC		0.612	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		5	43	0	0	0	1	0	5	43				
ATAD2	29028	broad.mit.edu	37	8	124373884	124373884	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr8:124373884C>T	ENST00000287394.5	-	9	1159	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	351					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCATGCCTTCGCCTAAAGTA	0.403																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1051-1053)cGa>cAa		ATPase family, AAA domain containing 2							118.0	115.0	116.0					8																	124373884		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124373884C>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1052G>A	8.37:g.124373884C>T	ENSP00000287394:p.Arg351Gln					ATAD2_ENST00000534257.1_5'UTR|ATAD2_ENST00000521903.1_5'UTR	p.R351Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		9	1159	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		351					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.1052G>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515124	0.85389	.	.	ENSG00000156802	ENST00000287394	D	0.92495	-3.05	5.59	5.59	0.84812	.	0.615500	0.12902	U	0.429729	D	0.93341	0.7877	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.977	D;B	0.63283	0.913;0.425	D	0.88937	0.3377	10	0.13108	T	0.6	-12.2165	15.1308	0.72520	0.142:0.858:0.0:0.0	.	181;351	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	Q	351	ENSP00000287394:R351Q	ENSP00000287394:R351Q	R	-	2	0	ATAD2	124443065	1.000000	0.71417	0.996000	0.52242	0.540000	0.34992	3.652000	0.54439	2.614000	0.88457	0.655000	0.94253	CGA		0.403	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		21	79	0	0	0	1	0	21	79				
PTPN3	5774	broad.mit.edu	37	9	112189342	112189342	+	Silent	SNP	A	A	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr9:112189342A>G	ENST00000374541.2	-	12	993	c.889T>C	c.(889-891)Ttg>Ctg	p.L297L	PTPN3_ENST00000446349.1_Silent_p.L166L|PTPN3_ENST00000412145.1_Silent_p.L166L|PTPN3_ENST00000262539.3_Silent_p.L188L	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	297	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GATTTCCACAAGTTTTTGCAA	0.448																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(496-498)Ttg>Ctg		protein tyrosine phosphatase, non-receptor type 3							147.0	133.0	138.0					9																	112189342		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112189342A>G		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.889T>C	9.37:g.112189342A>G						PTPN3_ENST00000446349.1_Silent_p.L166L|PTPN3_ENST00000262539.3_Silent_p.L188L|PTPN3_ENST00000374541.2_Silent_p.L297L	p.L166L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			7	3049	-			297			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.496T>C	CCDS6776.1																																																																																				0.448	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			9	53	0	0	0	1	0	9	53				
PTPRZ1	5803	broad.mit.edu	37	7	121698953	121698953	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:121698953G>C	ENST00000393386.2	+	28	7039	c.6628G>C	c.(6628-6630)Gaa>Caa	p.E2210Q	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E1343Q	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2210	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGTTATAAAAGAAGAAGCTGC	0.383																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(6628-6630)Gaa>Caa		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							112.0	118.0	116.0					7																	121698953		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121698953G>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.6628G>C	7.37:g.121698953G>C	ENSP00000377047:p.Glu2210Gln					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E1343Q	p.E2210Q	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			28	7039	+			2210			Tyrosine-protein phosphatase 2.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.6628G>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387207	0.61956	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	D;D	0.83673	-1.75;-1.75	5.86	5.86	0.93980	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.071164	0.56097	D	0.000021	D	0.88100	0.6346	L	0.39566	1.225	0.46798	D	0.9992	P;D;D	0.63046	0.675;0.992;0.977	P;D;D	0.70487	0.447;0.969;0.915	D	0.86463	0.1780	10	0.41790	T	0.15	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	1349;1343;2210	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	Q	2210;1343	ENSP00000377047:E2210Q;ENSP00000410000:E1343Q	ENSP00000377047:E2210Q	E	+	1	0	PTPRZ1	121486189	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.793000	0.62474	2.776000	0.95493	0.655000	0.94253	GAA		0.383	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		9	78	0	0	0	1	0	9	78				
SEC62	7095	broad.mit.edu	37	3	169694764	169694764	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr3:169694764C>T	ENST00000337002.4	+	3	234	c.176C>T	c.(175-177)tCa>tTa	p.S59L	SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Missense_Mutation_p.S59L	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	59					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CTTTTGGATTCAAAGTGGGCA	0.343																																						ENST00000337002.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(175-177)tCa>tTa		SEC62 homolog (S. cerevisiae)							73.0	72.0	72.0					3																	169694764		2203	4300	6503	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169694764C>T	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.176C>T	3.37:g.169694764C>T	ENSP00000337688:p.Ser59Leu					SEC62_ENST00000480708.1_Missense_Mutation_p.S59L	p.S59L	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN			3	234	+			59					D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.176C>T	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968030	0.74131	.	.	ENSG00000008952	ENST00000337002;ENST00000480708	T;T	0.13538	2.58;2.58	5.66	5.66	0.87406	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.130809	0.53938	D	0.000046	T	0.39253	0.1071	M	0.79011	2.435	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.13255	-1.0516	10	0.72032	D	0.01	-7.2856	16.6676	0.85257	0.0:1.0:0.0:0.0	.	59	Q99442	SEC62_HUMAN	L	59	ENSP00000337688:S59L;ENSP00000420331:S59L	ENSP00000337688:S59L	S	+	2	0	SEC62	171177458	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.188000	0.77739	2.671000	0.90904	0.555000	0.69702	TCA		0.343	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1			13	29	0	0	0	1	0	13	29				
DPF1	8193	broad.mit.edu	37	19	38713285	38713285	+	Silent	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:38713285G>A	ENST00000420980.2	-	2	200	c.174C>T	c.(172-174)tgC>tgT	p.C58C	DPF1_ENST00000416611.1_Silent_p.C32C|DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000456296.1_Silent_p.C32C|DPF1_ENST00000355526.4_Silent_p.C58C	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	58					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGCGCTCGGCGCACAGGCGCG	0.677																																						ENST00000416611.1																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.(94-96)tgC>tgT		D4, zinc and double PHD fingers family 1							25.0	25.0	25.0					19																	38713285		2199	4298	6497	SO:0001819	synonymous_variant	0				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713285G>A	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.174C>T	19.37:g.38713285G>A						DPF1_ENST00000456296.1_Silent_p.C32C|DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000355526.4_Silent_p.C58C|DPF1_ENST00000420980.2_Silent_p.C58C	p.C32C			Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	219	-	all_cancers(60;1.24e-06)		58					B3KSY8|Q08AJ0	Silent	SNP	ENST00000420980.2	37	c.96C>T	CCDS33008.2	.	.	.	.	.	.	.	.	.	.	g	8.147	0.786500	0.16189	.	.	ENSG00000011332	ENST00000355526	D	0.90444	-2.67	3.36	-0.239	0.13050	.	.	.	.	.	D	0.89118	0.6624	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81949	-0.0699	5	.	.	.	-11.8413	8.6657	0.34118	0.4071:0.0:0.5929:0.0	.	.	.	.	C	51	ENSP00000347716:R51C	.	R	-	1	0	DPF1	43405125	0.777000	0.28628	0.995000	0.50966	0.701000	0.40568	0.022000	0.13511	-0.303000	0.08856	-1.568000	0.00874	CGC		0.677	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			6	19	0	0	0	1	0	6	19				
CREBZF	58487	broad.mit.edu	37	11	85375852	85375852	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr11:85375852G>C	ENST00000527447.1	-	1	294	c.68C>G	c.(67-69)cCg>cGg	p.P23R	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_5'Flank|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	23					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGCCGGCTCCGGGCTCTCACT	0.726																																					NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(67-69)cCg>cGg		CREB/ATF bZIP transcription factor							10.0	12.0	11.0					11																	85375852		1735	3932	5667	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375852G>C	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.68C>G	11.37:g.85375852G>C	ENSP00000433459:p.Pro23Arg					CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	p.P23R	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	294	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	23					B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.68C>G	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	G	3.911	-0.020065	0.07634	.	.	ENSG00000137504	ENST00000527447	.	.	.	4.78	1.8	0.24995	.	.	.	.	.	T	0.24967	0.0606	N	0.08118	0	0.48830	D	0.999719	B	0.11235	0.004	B	0.10450	0.005	T	0.04537	-1.0944	7	.	.	.	-8.6727	3.688	0.08335	0.093:0.1664:0.5687:0.1719	.	23	Q9NS37	ZHANG_HUMAN	R	23	.	.	P	-	2	0	CREBZF	85053500	0.871000	0.30034	0.393000	0.26258	0.067000	0.16453	1.090000	0.30902	0.411000	0.25702	0.655000	0.94253	CCG		0.726	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		21	33	0	0	0	1	0	21	33				
VWA2	340706	broad.mit.edu	37	10	116021037	116021037	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr10:116021037C>G	ENST00000392982.3	+	5	604	c.354C>G	c.(352-354)atC>atG	p.I118M	VWA2_ENST00000603594.1_Missense_Mutation_p.I118M			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	118	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGGCAAGAATCAAGAGGATGG	0.463																																						ENST00000603594.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(352-354)atC>atG		von Willebrand factor A domain containing 2							120.0	111.0	114.0					10																	116021037		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116021037C>G	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.354C>G	10.37:g.116021037C>G	ENSP00000376708:p.Ile118Met					VWA2_ENST00000392982.3_Missense_Mutation_p.I118M	p.I118M	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	5	675	+			118			VWFA 1.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.354C>G		.	.	.	.	.	.	.	.	.	.	C	9.699	1.153982	0.21371	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.98381	-4.9	5.76	1.75	0.24633	von Willebrand factor, type A (3);	0.161363	0.56097	N	0.000040	D	0.96756	0.8941	M	0.78223	2.4	0.27769	N	0.94355	B;B	0.31931	0.347;0.298	B;B	0.36418	0.224;0.143	D	0.93313	0.6686	10	0.56958	D	0.05	.	5.6326	0.17518	0.136:0.5313:0.2623:0.0704	.	118;118	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	M	118	ENSP00000376708:I118M	ENSP00000298715:I118M	I	+	3	3	VWA2	116011027	0.987000	0.35691	0.701000	0.30321	0.664000	0.39144	0.150000	0.16263	0.055000	0.16094	-0.175000	0.13238	ATC		0.463	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496		13	97	0	0	0	1	0	13	97				
SRC	6714	broad.mit.edu	37	20	36012660	36012660	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr20:36012660C>T	ENST00000373578.2	+	4	453	c.104C>T	c.(103-105)tCg>tTg	p.S35L	SRC_ENST00000360723.4_Missense_Mutation_p.S35L|SRC_ENST00000373558.2_Missense_Mutation_p.S35L|SRC_ENST00000445403.1_Missense_Mutation_p.S35L|SRC_ENST00000358208.4_Missense_Mutation_p.S35L|SRC_ENST00000373567.2_Missense_Mutation_p.S35L	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	35					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	TTCCCCGCCTCGCAGACCCCC	0.746																																						ENST00000373578.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(103-105)tCg>tTg		v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	Dasatinib(DB01254)						6.0	9.0	8.0					20																	36012660		1848	3899	5747	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36012660C>T	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.104C>T	20.37:g.36012660C>T	ENSP00000362680:p.Ser35Leu					SRC_ENST00000373558.2_Missense_Mutation_p.S35L|SRC_ENST00000445403.1_Missense_Mutation_p.S35L|SRC_ENST00000360723.4_Missense_Mutation_p.S35L|SRC_ENST00000358208.4_Missense_Mutation_p.S35L|SRC_ENST00000373567.2_Missense_Mutation_p.S35L	p.S35L	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN			4	453	+		Myeloproliferative disorder(115;0.00878)	35					E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.104C>T	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634744	0.47049	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	4.14	4.14	0.48551	.	0.282027	0.35151	N	0.003405	T	0.61476	0.2350	L	0.48642	1.525	0.80722	D	1	P	0.41131	0.739	B	0.27887	0.084	T	0.64867	-0.6306	9	.	.	.	.	13.9441	0.64073	0.0:1.0:0.0:0.0	.	35	P12931	SRC_HUMAN	L	35	ENSP00000408503:S35L;ENSP00000362680:S35L;ENSP00000353950:S35L;ENSP00000350941:S35L;ENSP00000362668:S35L;ENSP00000362659:S35L	.	S	+	2	0	SRC	35446074	0.885000	0.30320	0.137000	0.22149	0.100000	0.18952	3.510000	0.53393	2.139000	0.66308	0.561000	0.74099	TCG		0.746	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		4	17	0	0	0	1	0	4	17				
KPNA4	3840	broad.mit.edu	37	3	160285957	160285957	+	5'Flank	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr3:160285957C>G	ENST00000334256.4	-	0	0				KRT8P12_ENST00000468527.1_RNA|KPNA4_ENST00000469804.1_5'Flank	NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)						cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAGTTTGCCTCCTTCACAGAC	0.552																																						ENST00000468527.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:160285957C>G	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033		3.37:g.160285957C>G	Exception_encountered													0	968	+								A8K4S6|D3DNM2|O00190	RNA	SNP	ENST00000334256.4	37		CCDS3191.1																																																																																				0.552	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		25	103	0	0	0	1	0	25	103				
TET1	80312	broad.mit.edu	37	10	70405889	70405889	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr10:70405889C>T	ENST00000373644.4	+	4	3612	c.3403C>T	c.(3403-3405)Cat>Tat	p.H1135Y		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1135					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACACAATAATCATGGTTCATC	0.393																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(3403-3405)Cat>Tat		tet methylcytosine dioxygenase 1							85.0	75.0	79.0					10																	70405889		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70405889C>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3403C>T	10.37:g.70405889C>T	ENSP00000362748:p.His1135Tyr						p.H1135Y	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			4	3612	+			1135					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.3403C>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	2.686	-0.274220	0.05679	.	.	ENSG00000138336	ENST00000373644	T	0.06294	3.32	5.36	3.52	0.40303	.	1.545220	0.03640	N	0.239389	T	0.05090	0.0136	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43686	-0.9376	10	0.06891	T	0.86	.	6.9259	0.24414	0.0:0.674:0.0:0.326	.	1135	Q8NFU7	TET1_HUMAN	Y	1135	ENSP00000362748:H1135Y	ENSP00000362748:H1135Y	H	+	1	0	TET1	70075895	0.504000	0.26123	0.001000	0.08648	0.832000	0.47134	1.744000	0.38268	0.664000	0.31047	-0.373000	0.07131	CAT		0.393	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		8	52	0	0	0	1	0	8	52				
ZNF655	79027	broad.mit.edu	37	7	99170671	99170671	+	Missense_Mutation	SNP	C	C	T	rs201958300		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:99170671C>T	ENST00000394163.2	+	3	1123	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000424881.1_Missense_Mutation_p.R349C|ZNF655_ENST00000493277.1_Missense_Mutation_p.R349C|ZNF655_ENST00000252713.4_Missense_Mutation_p.R314C	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	314					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R314C(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGTCTTCAGTCGTAGTGTCCA	0.403																																						ENST00000424881.1																			1	Substitution - Missense(1)	p.R314C(1)	NS(1)	NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(1045-1047)Cgt>Tgt		zinc finger protein 655							85.0	79.0	81.0					7																	99170671		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170671C>T	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.940C>T	7.37:g.99170671C>T	ENSP00000377718:p.Arg314Cys					ZNF655_ENST00000493277.1_Missense_Mutation_p.R349C|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.R314C|ZNF655_ENST00000252713.4_Missense_Mutation_p.R314C	p.R349C	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN			4	1265	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		314					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.1045C>T	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679155	0.47886	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	4.93	1.9	0.25705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000436	T	0.42787	0.1218	L	0.53729	1.69	0.41530	D	0.988455	B;B	0.17465	0.017;0.022	B;B	0.12837	0.004;0.008	T	0.37033	-0.9723	10	0.49607	T	0.09	-6.3528	6.7397	0.23428	0.0:0.6843:0.1477:0.168	.	349;314	Q8N720-3;Q8N720	.;ZN655_HUMAN	C	314;349;349;314	ENSP00000252713:R314C;ENSP00000419135:R349C;ENSP00000393876:R349C;ENSP00000377718:R314C	ENSP00000252713:R314C	R	+	1	0	ZNF655	99008607	0.000000	0.05858	0.989000	0.46669	0.940000	0.58332	0.142000	0.16096	0.754000	0.32968	0.650000	0.86243	CGT		0.403	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		6	97	0	0	0	1	0	6	97				
CRISPLD2	83716	broad.mit.edu	37	16	84911073	84911073	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:84911073G>A	ENST00000262424.5	+	12	1410	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A396T|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A395T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	396	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CACGACCGTTGCTCAGCTGTG	0.537																																						ENST00000262424.5																			0				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						c.(1186-1188)Gct>Act		cysteine-rich secretory protein LCCL domain containing 2							156.0	120.0	132.0					16																	84911073		2199	4300	6499	SO:0001583	missense	83716					extracellular region|transport vesicle		g.chr16:84911073G>A	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.1186G>A	16.37:g.84911073G>A	ENSP00000262424:p.Ala396Thr					CRISPLD2_ENST00000564567.1_Missense_Mutation_p.A396T|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.A395T	p.A396T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN			12	1410	+			396			LCCL 2.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	ENST00000262424.5	37	c.1186G>A	CCDS10949.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326450	0.81690	.	.	ENSG00000103196	ENST00000262424	D	0.89270	-2.49	5.07	5.07	0.68467	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.94235	0.8149	M	0.82923	2.615	0.80722	D	1	D;P	0.65815	0.995;0.917	D;P	0.65987	0.94;0.637	D	0.94364	0.7590	10	0.52906	T	0.07	.	16.3751	0.83382	0.0:0.0:1.0:0.0	.	396;396	Q9H0B8;Q9H0B8-2	CRLD2_HUMAN;.	T	396	ENSP00000262424:A396T	ENSP00000262424:A396T	A	+	1	0	CRISPLD2	83468574	1.000000	0.71417	0.922000	0.36590	0.553000	0.35397	7.568000	0.82369	2.533000	0.85409	0.556000	0.70494	GCT		0.537	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		6	105	0	0	0	1	0	6	105				
PSG9	5678	broad.mit.edu	37	19	43772209	43772209	+	Silent	SNP	G	G	A	rs144736946		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:43772209G>A	ENST00000270077.3	-	2	253	c.157C>T	c.(157-159)Cta>Tta	p.L53L	PSG9_ENST00000596730.1_Silent_p.L53L|PSG9_ENST00000418820.2_Silent_p.L53L|PSG9_ENST00000291752.5_Silent_p.L53L|PSG9_ENST00000443718.3_Silent_p.L53L|PSG9_ENST00000244293.7_Silent_p.L53L|PSG9_ENST00000593948.1_Silent_p.L53L	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	53	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGGACAAGTAGAAGAACATCC	0.473																																						ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(157-159)Cta>Tta		pregnancy specific beta-1-glycoprotein 9		G		1,4405	2.1+/-5.4	0,1,2202	161.0	158.0	159.0		157	-0.8	0.0	19	dbSNP_134	159	0,8600		0,0,4300	no	coding-synonymous	PSG9	NM_002784.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		53/427	43772209	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43772209G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.157C>T	19.37:g.43772209G>A						PSG9_ENST00000418820.2_Silent_p.L53L|PSG9_ENST00000443718.3_Silent_p.L53L|PSG9_ENST00000270077.3_Silent_p.L53L|PSG9_ENST00000291752.5_Silent_p.L53L|PSG9_ENST00000596730.1_Silent_p.L53L|PSG9_ENST00000593948.1_Silent_p.L53L	p.L53L			Q00887	PSG9_HUMAN			2	223	-		Prostate(69;0.00682)	53			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.157C>T	CCDS12618.1																																																																																				0.473	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		72	185	0	0	0	1	0	72	185				
SLX4	84464	broad.mit.edu	37	16	3640002	3640002	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:3640002C>G	ENST00000294008.3	-	12	4277	c.3637G>C	c.(3637-3639)Gtg>Ctg	p.V1213L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1213	Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGCTGCAGCACAGCTTCGCTT	0.577								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(3637-3639)Gtg>Ctg	Direct reversal of damage	SLX4 structure-specific endonuclease subunit							56.0	60.0	59.0					16																	3640002		2197	4300	6497	SO:0001583	missense	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3640002C>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.3637G>C	16.37:g.3640002C>G	ENSP00000294008:p.Val1213Leu						p.V1213L	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN			12	4277	-			1213			Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.3637G>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740428	0.30865	.	.	ENSG00000188827	ENST00000294008	T	0.17213	2.29	6.07	-2.53	0.06326	.	1.463100	0.03997	N	0.295927	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25293	-1.0136	10	0.28530	T	0.3	.	1.9565	0.03377	0.2069:0.4245:0.2033:0.1653	.	1213	Q8IY92	SLX4_HUMAN	L	1213	ENSP00000294008:V1213L	ENSP00000294008:V1213L	V	-	1	0	SLX4	3580003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.839000	0.04368	-0.746000	0.04766	-0.152000	0.13540	GTG		0.577	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		25	142	0	0	0	1	0	25	142				
BRD7	29117	broad.mit.edu	37	16	50354303	50354303	+	Splice_Site	SNP	C	C	T	rs540625147		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr16:50354303C>T	ENST00000394688.3	-	15	1772		c.e15-1		BRD7_ENST00000394689.2_Splice_Site			Q9NPI1	BRD7_HUMAN	bromodomain containing 7						cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATTTCAGCTTCTGTGTGGTAA	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21008	0.0		0.0	False		,,,				2504	0.0					ENST00000394688.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22						c.e15-1		bromodomain containing 7							99.0	97.0	97.0					16																	50354303		2198	4300	6498	SO:0001630	splice_region_variant	29117				cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:50354303C>T	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1613-1G>A	16.37:g.50354303C>T						BRD7_ENST00000394689.2_Splice_Site				Q9NPI1	BRD7_HUMAN			15	1772	-		all_cancers(37;0.0127)						Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Splice_Site	SNP	ENST00000394688.3	37		CCDS10742.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942537	0.73672	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5306	0.95228	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRD7	48911804	1.000000	0.71417	0.996000	0.52242	0.909000	0.53808	7.442000	0.80503	2.665000	0.90641	0.655000	0.94253	.		0.463	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263	Intron	11	81	0	0	0	1	0	11	81				
PDIK1L	149420	broad.mit.edu	37	1	26448486	26448486	+	Silent	SNP	G	G	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr1:26448486G>C	ENST00000374271.4	+	4	731	c.444G>C	c.(442-444)ctG>ctC	p.L148L	PDIK1L_ENST00000374269.1_Silent_p.L148L	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTCAGCTGAGCAGTGCCC	0.438																																						ENST00000374271.4																			0				large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(442-444)ctG>ctC		PDLIM1 interacting kinase 1 like							119.0	118.0	119.0					1																	26448486		2203	4300	6503	SO:0001819	synonymous_variant	149420					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr1:26448486G>C	AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.444G>C	1.37:g.26448486G>C						PDIK1L_ENST00000374269.1_Silent_p.L148L	p.L148L	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)	4	731	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	148			Protein kinase.		B2R777|D3DPK2|Q5T2I0|Q8NDB3	Silent	SNP	ENST00000374271.4	37	c.444G>C	CCDS274.1																																																																																				0.438	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835		17	109	0	0	0	1	0	17	109				
WASL	8976	broad.mit.edu	37	7	123332450	123332450	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:123332450C>G	ENST00000223023.4	-	9	1630	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	433	WH2 2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCATCTCGTCCAGAGCAGGA	0.398																																						ENST00000223023.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1297-1299)gGa>gCa		Wiskott-Aldrich syndrome-like							76.0	72.0	73.0					7																	123332450		2203	4300	6503	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332450C>G	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1298G>C	7.37:g.123332450C>G	ENSP00000223023:p.Gly433Ala						p.G433A	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN			9	1630	-			433			WH2 2.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.1298G>C	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021317	0.75275	.	.	ENSG00000106299	ENST00000223023	T	0.49720	0.77	5.64	5.64	0.86602	Wiscott-Aldrich syndrome, C-terminal (1);Actin-binding WH2 (3);	0.113374	0.64402	D	0.000008	T	0.69459	0.3113	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71224	-0.4656	10	0.87932	D	0	-16.9557	19.6847	0.95976	0.0:1.0:0.0:0.0	.	433	O00401	WASL_HUMAN	A	433	ENSP00000223023:G433A	ENSP00000223023:G433A	G	-	2	0	WASL	123119686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.632000	0.83247	2.651000	0.90000	0.650000	0.86243	GGA		0.398	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		18	99	0	0	0	1	0	18	99				
POLQ	10721	broad.mit.edu	37	3	121230820	121230820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr3:121230820G>A	ENST00000264233.5	-	10	1653	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	509	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAGAACCCTGAAGGAGAGCT	0.408								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1525-1527)Cag>Tag	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							83.0	81.0	82.0					3																	121230820		2203	4299	6502	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121230820G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1525C>T	3.37:g.121230820G>A	ENSP00000264233:p.Gln509*						p.Q509*	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	10	1653	-			509			Helicase C-terminal.		O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.1525C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	39	7.455964	0.98296	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.33	5.33	0.75918	.	0.233178	0.43919	D	0.000509	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.0019	0.92837	0.0:0.0:1.0:0.0	.	.	.	.	X	132;509;645	.	ENSP00000264233:Q509X	Q	-	1	0	POLQ	122713510	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.772000	0.68889	2.463000	0.83235	0.462000	0.41574	CAG		0.408	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		20	105	0	0	0	1	0	20	105				
ZNF883	169834	broad.mit.edu	37	9	115760586	115760586	+	lincRNA	SNP	C	C	T	rs75939690	byFrequency	TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr9:115760586C>T	ENST00000427548.1	-	0	1227							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TCATTTTTGTCGGTATGTAAT	0.289													G|||	259	0.0517173	0.0076	0.0562	5008	,	,		18495	0.0833		0.0696	False		,,,				2504	0.0573					ENST00000427548.1																			0													zinc finger protein 883		G		36,3146		0,36,1555	28.0	30.0	29.0			0.6	0.0	9	dbSNP_132	29	406,6388		22,362,3013	no	utr-5	ZNF883	NM_001101338.1		22,398,4568	TT,TC,CC		5.9759,1.1314,4.4306			115760586	442,9534	1591	3397	4988			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760586C>T	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760586C>T										P0CG24	ZN883_HUMAN			0	1227	-									RNA	SNP	ENST00000427548.1	37																																																																																						0.289	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		3	22	0	0	0	1	0	3	22				
PMS2P4	5382	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166|rs12531701	byFrequency	TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:66767610_66767611insG	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CACCGGACTGCTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66767610_66767611insG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767610_66767611insG								NR_040586.1		Q8TBR4	STG34_HUMAN			0	3_4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	INS	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		3	5						3	5	---	---	---	---
FAM3C	10447	broad.mit.edu	37	7	121002954	121002955	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr7:121002954_121002955insT	ENST00000359943.3	-	7	591_592	c.378_379insA	c.(376-381)ggaggafs	p.G127fs		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	127					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					TGCTTACCTCCTCCCCACATGT	0.332																																						ENST00000359943.3																			0				kidney(1)|lung(8)	9						c.(376-381)gggagafs		family with sequence similarity 3, member C																																				SO:0001589	frameshift_variant	10447				multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity	g.chr7:121002954_121002955insT	D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"""predicted osteoblast protein"", ""interleukin-like EMT inducer"", ""interleukin-like epithelial-mesenchymal transition inducer"""	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.379dupA	7.37:g.121002955_121002955dupT	ENSP00000353025:p.Gly127fs						p.R127fs	NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN			7	591_592	-	all_neural(327;0.117)		127					A6NDN2|A8K3R7	Frame_Shift_Ins	INS	ENST00000359943.3	37	c.378_379insA	CCDS5782.1																																																																																				0.332	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346945.1	NM_001040020		7	49						7	49	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115375030	115375035	+	In_Frame_Del	DEL	AGCCGG	AGCCGG	-	rs147879356	byFrequency	TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr11:115375030_115375035delAGCCGG	ENST00000452722.3	-	1	98_103	c.78_83delCCGGCT	c.(76-84)ctccggctt>ctt	p.26_28LRL>L	CADM1_ENST00000331581.6_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000542447.2_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000536727.1_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_In_Frame_Del_p.26_28LRL>L	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CAACAGCAGAAGCCGGAGCCGGAGCC	0.694														28	0.00559105	0.0008	0.0101	5008	,	,		12001	0.0		0.0169	False		,,,				2504	0.0031					ENST00000542447.2																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(76-84)ctt>ct		cell adhesion molecule 1			,	10,3820		3,4,1908					,	1.3	1.0		dbSNP_134	11	123,7449		13,97,3676	no	coding,coding	CADM1	NM_014333.3,NM_001098517.1	,	16,101,5584	A1A1,A1R,RR		1.6244,0.2611,1.1665	,	,		133,11269				SO:0001651	inframe_deletion	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115375030_115375035delAGCCGG	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.78_83delCCGGCT	11.37:g.115375036_115375041delAGCCGG	ENSP00000395359:p.Leu26_Arg27del					CADM1_ENST00000452722.2_In_Frame_Del_p.LRL26del|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_In_Frame_Del_p.LRL26del|CADM1_ENST00000331581.6_In_Frame_Del_p.LRL26del|CADM1_ENST00000537058.1_In_Frame_Del_p.LRL26del	p.LRL26del	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	1	206_211	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	26						In_Frame_Del	DEL	ENST00000452722.3	37	c.78_83delCCGGCT	CCDS8373.1																																																																																				0.694	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		3	6						3	6	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		8	292						8	292	---	---	---	---
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724		TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr14:20296055_20296056insT	ENST00000315947.1	+	1	448_449	c.448_449insT	c.(448-450)cttfs	p.L150fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.L150fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.53																																						ENST00000315947.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52						c.(448-450)tggfs		olfactory receptor, family 4, subfamily N, member 2																																				SO:0001589	frameshift_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296055_20296056insT		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.450dupT	14.37:g.20296057_20296057dupT	ENSP00000319601:p.Leu150fs					OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.W150fs	p.W150fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	448_449	+	all_cancers(95;0.00108)		150					Q6IEY9|Q6IFA2	Frame_Shift_Ins	INS	ENST00000315947.1	37	c.448_449insT	CCDS32022.1																																																																																				0.530	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			62	431						62	431	---	---	---	---
TRAV24	28659	broad.mit.edu	37	14	22573824	22573825	+	RNA	INS	-	-	A	rs33991650|rs112427980|rs535957758|rs11408894	byFrequency	TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr14:22573824_22573825insA	ENST00000390453.1	+	0	55									T cell receptor alpha variable 24																		TGACTCTTTTTTAAAAAAACAG	0.45													?|-|A|unsure	1610	0.321486	0.2284	0.3646	5008	,	,		20477	0.4028		0.3171	False		,,,				2504	0.3374					ENST00000390453.1																			0																	859,2725		120,619,1053						4.0	0.0		dbSNP_126	26	2428,5448		380,1668,1890	no	intergenic				500,2287,2943	A1A1,A1R,RR		30.8278,23.9676,28.6824				3287,8173						0							g.chr14:22573824_22573825insA	AE000660		14q11.2	2012-02-07			ENSG00000211805	ENSG00000211805		"""T cell receptors / TRA locus"""	12121	other	T cell receptor gene						12594262, 8188290	Standard	NG_001332		Approved				OTTHUMG00000170652		14.37:g.22573824_22573825insA														0	55	+									RNA	INS	ENST00000390453.1	37																																																																																						0.450	TRAV24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409900.1	NG_001332		8	12						8	12	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44974154	44974155	+	In_Frame_Ins	INS	-	-	GGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	rs71108655|rs375198387|rs3840828	byFrequency	TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	ENST00000340446.4	-	1	2327_2328	c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	c.(2035-2037)cct>ccCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCt	p.679_679P>PSEVQPPPAEEAP	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	679	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAACTTCAGCAGGGGCCTCCTC	0.604																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2035-2037)cgc>cCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCCgc		fibrous sheath CABYR binding protein				1640,2526		400,840,843						-1.0	0.0		dbSNP_107	31	3827,4381		924,1979,1201	no	coding	FSCB	NM_032135.3		1324,2819,2044	A1A1,A1R,RR		46.6252,39.3663,44.1813				5467,6907				SO:0001652	inframe_insertion	84075					cilium		g.chr14:44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	14.37:g.44974154_44974155insGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	Exception_encountered						p.678_679insPLKFSLHQLRRP	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2327_2328	-			678			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	In_Frame_Ins	INS	ENST00000340446.4	37	c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	CCDS9679.1																																																																																				0.604	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		8	50						8	50	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55815035	55815036	+	Splice_Site	INS	-	-	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr19:55815035_55815036insC	ENST00000309383.1	+	12	1404_1405	c.1127_1128insC	c.(1126-1131)gacccc>gaCcccc	p.DP376fs	BRSK1_ENST00000326848.7_Splice_Site_p.DP71fs|BRSK1_ENST00000590333.1_Splice_Site_p.DP392fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	376					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R379fs*9(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGTCCCTCAGACCCCCCCCGGA	0.579																																						ENST00000309383.1																			2	Deletion - Frameshift(2)	p.R379fs*9(2)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.e12-1		BR serine/threonine kinase 1																																				SO:0001630	splice_region_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55815035_55815036insC	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1127-1->C	19.37:g.55815043_55815043dupC						BRSK1_ENST00000590333.1_Splice_Site_p.A392_splice|BRSK1_ENST00000326848.7_Splice_Site_p.A71_splice	p.A376_splice	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	12	1404_1405	+		Renal(1328;0.245)	376					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Splice_Site	INS	ENST00000309383.1	37	c.1126_splice	CCDS12921.1																																																																																				0.579	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	Frame_Shift_Ins	7	162						7	162	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343746	15343749	+	RNA	DEL	TCTG	TCTG	-	rs201012227|rs570464638	byFrequency	TCGA-EL-A3ZO-01A-11D-A23M-08	TCGA-EL-A3ZO-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21a5295b-4bfd-44d5-8013-41a2767b00d5	334efff1-8d40-4737-9810-b9586895deef	g.chr21:15343746_15343749delTCTG	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		CTCTGTGCTTTCTGATGTGCTGCT	0.407														730	0.145767	0.174	0.121	5008	,	,		17936	0.1806		0.0924	False		,,,				2504	0.1442					ENST00000344693.5																			0																																																			0							g.chr21:15343746_15343749delTCTG			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343746_15343749delTCTG								NR_027270.1						0	736	-									RNA	DEL	ENST00000344693.5	37																																																																																						0.407	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			3	5						3	5	---	---	---	---
