#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KLHL17	339451	broad.mit.edu	37	1	896822	896822	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:896822G>A	ENST00000338591.3	+	2	364	c.257G>A	c.(256-258)cGc>cAc	p.R86H	NOC2L_ENST00000327044.6_5'Flank|NOC2L_ENST00000487214.1_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	86					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCCGCATGCGCCAGCGCGGC	0.672																																						uc001aca.1		NA																	0					0						c.(256-258)CGC>CAC		kelch-like 17							24.0	25.0	25.0					1																	896822		2195	4283	6478	SO:0001583	missense	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:896822G>A	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.257G>A	1.37:g.896822G>A	ENSP00000343930:p.Arg86His					NOC2L_uc001aby.3_5'Flank|NOC2L_uc001abz.3_5'Flank|NOC2L_uc009vjq.2_5'Flank|NOC2L_uc009vjr.1_5'Flank|KLHL17_uc001acb.1_5'Flank|KLHL17_uc010nya.1_5'Flank|KLHL17_uc001acc.1_5'Flank|KLHL17_uc010nyb.1_5'Flank	p.R86H	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	2	364	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	86					Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	c.257G>A	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936610	0.92458	.	.	ENSG00000187961	ENST00000338591	T	0.73152	-0.72	4.02	4.02	0.46733	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	D	0.87188	0.6115	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90840	0.4723	10	0.87932	D	0	.	17.0331	0.86466	0.0:0.0:1.0:0.0	.	86	Q6TDP4	KLH17_HUMAN	H	86	ENSP00000343930:R86H	ENSP00000343930:R86H	R	+	2	0	KLHL17	886685	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.914000	0.87478	2.179000	0.69175	0.491000	0.48974	CGC		0.672	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3	NM_198317		5	28	0	0	0	0	5	28				
SDF4	51150	broad.mit.edu	37	1	1152946	1152946	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:1152946G>A	ENST00000360001.6	-	7	1297	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	345	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for intracellular retention in Golgi apparatus lumen. {ECO:0000250}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TGCCCGTGAAGAACTCGCTGT	0.682																																						uc001adh.3		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1033-1035)TTC>TTT		stromal cell derived factor 4 isoform 2							83.0	86.0	85.0					1																	1152946		2203	4299	6502	SO:0001819	synonymous_variant	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|calcium ion binding|identical protein binding|protein binding	g.chr1:1152946G>A		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.1035C>T	1.37:g.1152946G>A						SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_3'UTR|SDF4_uc009vjv.2_Silent_p.F223F|SDF4_uc009vjw.2_RNA	p.F345F	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	7	1364	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	345			Necessary for intracellular retention in Golgi apparatus lumen (By similarity).|EF-hand 6.		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Silent	SNP	ENST00000360001.6	37	c.1035C>T	CCDS30553.1																																																																																				0.682	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		11	57	0	0	0	0	11	57				
ACAP3	116983	broad.mit.edu	37	1	1235353	1235353	+	Splice_Site	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:1235353C>G	ENST00000354700.5	-	8	865	c.663G>C	c.(661-663)gaG>gaC	p.E221D	ACAP3_ENST00000353662.3_Splice_Site_p.E179D|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	221					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGGCTCACCTCGGCTGCCA	0.632																																						uc001aeb.2		NA																	0					0						c.(661-663)GAG>GAC		ArfGAP with coiled-coil, ankyrin repeat and PH							27.0	30.0	29.0					1																	1235353		2198	4293	6491	SO:0001630	splice_region_variant	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1235353C>G	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.663+1G>C	1.37:g.1235353C>G						ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.E179D|ACAP3_uc001aec.1_Missense_Mutation_p.E179D	p.E221D	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			8	737	-			221					B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	c.663G>C	CCDS19.2	.	.	.	.	.	.	.	.	.	.	C	8.209	0.799982	0.16397	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.04275	3.66;3.66	3.44	2.52	0.30459	.	0.127483	0.51477	D	0.000100	T	0.06690	0.0171	L	0.56769	1.78	0.39584	D	0.969488	B;P;P	0.36086	0.357;0.536;0.461	B;B;B	0.36922	0.236;0.11;0.218	T	0.37842	-0.9688	9	.	.	.	.	11.5911	0.50945	0.0:0.9086:0.0:0.0914	.	261;221;179	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	D	221;179	ENSP00000346733:E221D;ENSP00000321139:E179D	.	E	-	3	2	ACAP3	1225216	1.000000	0.71417	0.986000	0.45419	0.047000	0.14425	7.098000	0.76974	1.025000	0.39708	0.491000	0.48974	GAG		0.632	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649	Missense_Mutation	7	22	0	0	0	0	7	22				
UBE4B	10277	broad.mit.edu	37	1	10211518	10211518	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:10211518A>T	ENST00000253251.8	+	20	3277	c.2438A>T	c.(2437-2439)aAc>aTc	p.N813I	UBE4B_ENST00000343090.6_Missense_Mutation_p.N942I|UBE4B_ENST00000377157.3_Missense_Mutation_p.N697I					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTTATGACCAACCCTGCTGTT	0.428																																						uc001aqs.3		NA																	0				ovary(2)|skin(2)	4						c.(2824-2826)AAC>ATC		ubiquitination factor E4B isoform 1							200.0	182.0	188.0					1																	10211518		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10211518A>T	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2438A>T	1.37:g.10211518A>T	ENSP00000253251:p.Asn813Ile					UBE4B_uc001aqr.3_Missense_Mutation_p.N813I|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.N397I|UBE4B_uc001aqt.1_Missense_Mutation_p.N282I	p.N942I	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	21	3538	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	942						Missense_Mutation	SNP	ENST00000253251.8	37	c.2825A>T	CCDS110.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509472	0.64522	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.39997	1.05;1.05;1.05	5.13	5.13	0.70059	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	N	0.24115	0.695	0.80722	D	1	P;P;P	0.47484	0.896;0.835;0.874	P;P;B	0.46685	0.478;0.524;0.347	T	0.06752	-1.0809	10	0.22109	T	0.4	-26.0632	14.9449	0.71023	1.0:0.0:0.0:0.0	.	813;942;813	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	I	813;697;942	ENSP00000253251:N813I;ENSP00000366362:N697I;ENSP00000343001:N942I	ENSP00000253251:N813I	N	+	2	0	UBE4B	10134105	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.335000	0.96500	1.936000	0.56123	0.377000	0.23210	AAC		0.428	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		15	100	0	0	0	0	15	100				
PGD	5226	broad.mit.edu	37	1	10473290	10473290	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:10473290G>A	ENST00000270776.8	+	8	864	c.826G>A	c.(826-828)Gta>Ata	p.V276I	PGD_ENST00000541529.1_Missense_Mutation_p.V254I|PGD_ENST00000538557.1_Missense_Mutation_p.V263I	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	276					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	GGAATACGGCGTACCCGTCAC	0.542																																						uc001arc.2		NA																	0				ovary(1)	1						c.(826-828)GTA>ATA		phosphogluconate dehydrogenase							92.0	74.0	80.0					1																	10473290		2203	4300	6503	SO:0001583	missense	5226				pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding	g.chr1:10473290G>A	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.826G>A	1.37:g.10473290G>A	ENSP00000270776:p.Val276Ile					PGD_uc001ard.2_Missense_Mutation_p.V196I|PGD_uc010oak.1_Missense_Mutation_p.V254I|PGD_uc010oal.1_Missense_Mutation_p.V263I	p.V276I	NM_002631	NP_002622	P52209	6PGD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	8	916	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	276					A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	c.826G>A	CCDS113.1	.	.	.	.	.	.	.	.	.	.	G	0.894	-0.724390	0.03158	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.44881	0.91;0.91;0.91	5.06	3.17	0.36434	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.184196	0.48767	D	0.000173	T	0.24774	0.0601	N	0.25380	0.74	0.34184	D	0.671213	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.09377	0.003;0.004;0.004	T	0.28235	-1.0050	10	0.06236	T	0.91	-9.4973	10.8781	0.46923	0.1547:0.0:0.8453:0.0	.	254;276;276	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	I	254;222;276;263	ENSP00000442285:V254I;ENSP00000270776:V276I;ENSP00000437822:V263I	ENSP00000270776:V276I	V	+	1	0	PGD	10395877	0.999000	0.42202	0.021000	0.16686	0.517000	0.34286	3.527000	0.53517	0.630000	0.30394	0.637000	0.83480	GTA		0.542	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1	NM_002631		17	33	0	0	0	0	17	33				
NBPF1	55672	broad.mit.edu	37	1	16902828	16902828	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:16902828C>T	ENST00000430580.2	-	19	2940	c.2053G>A	c.(2053-2055)Gac>Aac	p.D685N	NBPF1_ENST00000287968.8_Missense_Mutation_p.D50N|NBPF1_ENST00000432949.1_Missense_Mutation_p.D143N|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	685						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTGGAGGTCCTGCCCCTGG	0.577																																						uc009vos.1		NA																	0					0						c.(2053-2055)GAC>AAC		hypothetical protein LOC55672							342.0	372.0	361.0					1																	16902828		1511	2706	4217	SO:0001583	missense	55672					cytoplasm		g.chr1:16902828C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2053G>A	1.37:g.16902828C>T	ENSP00000474456:p.Asp685Asn					NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.D143N|NBPF1_uc010oce.1_Missense_Mutation_p.D414N	p.D685N	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	19	2941	-			685					Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2053G>A																																																																																					0.577	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		27	740	0	0	0	0	27	740				
CAP1	10487	broad.mit.edu	37	1	40525772	40525772	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:40525772C>T	ENST00000372797.3	+	3	707	c.146C>T	c.(145-147)tCg>tTg	p.S49L	CAP1_ENST00000372805.3_Missense_Mutation_p.S49L|CAP1_ENST00000340450.3_Missense_Mutation_p.S48L|CAP1_ENST00000372802.1_Missense_Mutation_p.S48L|CAP1_ENST00000372798.1_Missense_Mutation_p.S48L|CAP1_ENST00000372792.2_Missense_Mutation_p.S49L	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q13114	TRAF3_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	484					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCATTTGACTCGCTGCTTGCT	0.463																																						uc001cfa.3		NA																	0				ovary(1)	1						c.(145-147)TCG>TTG		adenylyl cyclase-associated protein							112.0	114.0	113.0					1																	40525772		2002	4181	6183	SO:0001583	missense	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40525772C>T	L12168	CCDS41309.1	1p34.3	2010-07-13			ENSG00000131236	ENSG00000131236			20040	protein-coding gene	gene with protein product						1406678, 8761950	Standard	NM_006367		Approved	CAP	uc001cey.4	Q01518	OTTHUMG00000004493	ENST00000372797.3:c.146C>T	1.37:g.40525772C>T	ENSP00000361883:p.Ser49Leu					CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.S49L|CAP1_uc001cez.3_Missense_Mutation_p.S49L|CAP1_uc009vvz.2_Missense_Mutation_p.S49L|CAP1_uc010oje.1_Missense_Mutation_p.R19C	p.S49L	NM_006367	NP_006358	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		3	375	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	49					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000372797.3	37	c.146C>T	CCDS41309.1	.	.	.	.	.	.	.	.	.	.	C	4.887	0.164922	0.09287	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000449311;ENST00000421589;ENST00000414281;ENST00000420216;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805;ENST00000435719;ENST00000427843;ENST00000424977;ENST00000417287;ENST00000446031	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;2.68	4.91	2.04	0.26737	Adenylate cyclase-associated CAP, N-terminal (2);	0.467304	0.23380	N	0.048809	T	0.21103	0.0508	L	0.41824	1.3	0.20196	N	0.999922	B	0.02656	0.0	B	0.04013	0.001	T	0.15867	-1.0422	10	0.44086	T	0.13	-10.1636	5.5482	0.17076	0.1387:0.644:0.0:0.2173	.	49	Q01518	CAP1_HUMAN	L	49;48;49;49;49;49;49;26;48;48;49;48;49;49;49;49	ENSP00000361883:S49L;ENSP00000361888:S48L;ENSP00000398475:S49L;ENSP00000403198:S49L;ENSP00000408561:S49L;ENSP00000410586:S49L;ENSP00000361878:S49L;ENSP00000361884:S48L;ENSP00000344832:S48L;ENSP00000361891:S49L;ENSP00000412859:S48L;ENSP00000413656:S49L;ENSP00000413383:S49L;ENSP00000400943:S49L;ENSP00000389974:S49L	ENSP00000344832:S48L	S	+	2	0	CAP1	40298359	0.002000	0.14202	0.790000	0.31976	0.278000	0.26855	0.051000	0.14141	0.348000	0.23949	-0.693000	0.03709	TCG		0.463	CAP1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000013109.1	NM_006367		21	49	0	0	0	0	21	49				
SZT2	23334	broad.mit.edu	37	1	43909378	43909378	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:43909378G>A	ENST00000562955.1	+	61	8565	c.8565G>A	c.(8563-8565)ctG>ctA	p.L2855L	SZT2_ENST00000372442.1_Silent_p.L2013L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2912					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGAAGGAGCTGAGCTTGGCTT	0.632																																						uc001cjk.1		NA																	0					0						c.(6037-6039)CTG>CTA		hypothetical protein LOC23334							158.0	156.0	157.0					1																	43909378		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43909378G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8565G>A	1.37:g.43909378G>A						KIAA0467_uc001cjl.1_5'Flank	p.L2013L	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			47	6501	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2912					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.6039G>A	CCDS30694.2																																																																																				0.632	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		45	153	0	0	0	0	45	153				
Unknown	0	broad.mit.edu	37	1	144618116	144618116	+	IGR	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:144618116G>T								RP11-640M9.2 (12225 upstream) : NBPF9 (193627 downstream)																							TCAGGAACGAGAGCTGACGCA	0.473																																						uc009wig.1		NA																	0					0						c.(313-315)GAG>TAG		hypothetical protein LOC400818							38.0	36.0	37.0					1																	144618116		692	1591	2283	SO:0001628	intergenic_variant	400818					cytoplasm		g.chr1:144618116G>T																													1.37:g.144618116G>T						NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Nonsense_Mutation_p.E36*|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Nonsense_Mutation_p.E36*|NBPF9_uc010oyg.1_Nonsense_Mutation_p.E70*|NBPF9_uc009wii.1_5'UTR	p.E105*	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			6	389	+			105			Potential.			Nonsense_Mutation	SNP		37	c.313G>T																																																																																				0	0.473									59	472	1	0	8.31e-28	1.75e-27	59	472				
PRG4	10216	broad.mit.edu	37	1	186275989	186275989	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:186275989G>T	ENST00000445192.2	+	7	1183	c.1138G>T	c.(1138-1140)Gag>Tag	p.E380*	PRG4_ENST00000367483.4_Nonsense_Mutation_p.E339*|PRG4_ENST00000367484.3_Nonsense_Mutation_p.E339*|PRG4_ENST00000367486.3_Nonsense_Mutation_p.E337*|PRG4_ENST00000367485.4_Nonsense_Mutation_p.E287*	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	380	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCCCAAGGAGCCTGCACC	0.642																																						uc001gru.3		NA																	0				skin(1)	1						c.(1138-1140)GAG>TAG		proteoglycan 4 isoform A							158.0	152.0	154.0					1																	186275989		2203	4299	6502	SO:0001587	stop_gained	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275989G>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1138G>T	1.37:g.186275989G>T	ENSP00000399679:p.Glu380*					PRG4_uc001grt.3_Nonsense_Mutation_p.E339*|PRG4_uc009wyl.2_Nonsense_Mutation_p.E287*|PRG4_uc009wym.2_Nonsense_Mutation_p.E246*|PRG4_uc010poo.1_RNA	p.E380*	NM_005807	NP_005798	Q92954	PRG4_HUMAN			7	1189	+			380			5.|59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Nonsense_Mutation	SNP	ENST00000445192.2	37	c.1138G>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	13.52	2.263094	0.39995	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	.	.	.	2.46	1.45	0.22620	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.682	0.34214	0.1278:0.0:0.8722:0.0	.	.	.	.	X	337;339;246;339;287;380	.	.	E	+	1	0	PRG4	184542612	0.000000	0.05858	0.464000	0.27143	0.107000	0.19398	-0.724000	0.04947	0.115000	0.18071	0.177000	0.17058	GAG		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		22	101	1	0	1.11e-12	2.29e-12	22	101				
PTPRC	5788	broad.mit.edu	37	1	198719738	198719738	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:198719738C>T	ENST00000367376.2	+	29	3355	c.3184C>T	c.(3184-3186)Ctg>Ttg	p.L1062L	PTPRC_ENST00000348564.6_Silent_p.L903L|PTPRC_ENST00000442510.2_Silent_p.L1064L|PTPRC_ENST00000352140.3_Silent_p.L1014L|PTPRC_ENST00000594404.1_Silent_p.L901L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1062	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCTGACAGAACTGAAACATGG	0.408																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(3184-3186)CTG>TTG		protein tyrosine phosphatase, receptor type, C							146.0	143.0	144.0					1																	198719738		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198719738C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3184C>T	1.37:g.198719738C>T						PTPRC_uc001gus.1_Silent_p.L1014L|PTPRC_uc001gut.1_Silent_p.L901L	p.L1062L	NM_002838	NP_002829	P08575	PTPRC_HUMAN			29	3364	+			1062			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.3184C>T																																																																																					0.408	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				16	78	0	0	0	0	16	78				
DDX59	83479	broad.mit.edu	37	1	200635479	200635479	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:200635479C>A	ENST00000331314.6	-	2	603	c.390G>T	c.(388-390)gaG>gaT	p.E130D	DDX59_ENST00000447706.2_Missense_Mutation_p.E130D|DDX59_ENST00000367348.3_Missense_Mutation_p.E130D	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	130						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TCGCTTTACACTCCAAACTAC	0.448																																						uc009wzk.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(388-390)GAG>GAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							103.0	103.0	103.0					1																	200635479		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635479C>A	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.390G>T	1.37:g.200635479C>A	ENSP00000330460:p.Glu130Asp					DDX59_uc010ppl.1_Missense_Mutation_p.E130D	p.E130D	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			2	633	-			130			HIT-type.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.390G>T	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225891	0.79576	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.09	3.19	0.36642	Zinc finger, HIT-type (1);	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	M	0.67953	2.075	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59658	-0.7413	10	0.33141	T	0.24	-37.2394	10.3947	0.44194	0.0:0.7702:0.0:0.2298	.	130;130	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	D	130	ENSP00000394367:E130D;ENSP00000356317:E130D;ENSP00000330460:E130D;ENSP00000391312:E130D	ENSP00000330460:E130D	E	-	3	2	DDX59	198902102	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	0.781000	0.26774	1.148000	0.42385	0.555000	0.69702	GAG		0.448	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		20	58	1	0	2.38e-13	4.93e-13	20	58				
KIF26B	55083	broad.mit.edu	37	1	245775205	245775205	+	Silent	SNP	C	C	T	rs376804048	byFrequency	TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr1:245775205C>T	ENST00000407071.2	+	9	2465	c.2025C>T	c.(2023-2025)gaC>gaT	p.D675D	KIF26B_ENST00000366518.4_Silent_p.D294D|RP11-522M21.2_ENST00000418402.1_RNA	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	675	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATGAGGACGACCACCGCAACT	0.612													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16371	0.0		0.0	False		,,,				2504	0.0					uc001ibf.1		NA																	0				ovary(3)	3						c.(2023-2025)GAC>GAT		kinesin family member 26B		C		2,4118		0,2,2058	59.0	66.0	63.0		2025	3.5	0.9	1		63	0,8390		0,0,4195	no	coding-synonymous	KIF26B	NM_018012.3		0,2,6253	TT,TC,CC		0.0,0.0485,0.016		675/2109	245775205	2,12508	2060	4195	6255	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245775205C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2025C>T	1.37:g.245775205C>T						KIF26B_uc010pyq.1_Silent_p.D675D|KIF26B_uc001ibg.1_Silent_p.D293D	p.D675D	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2465	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		675			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2025C>T	CCDS44342.1																																																																																				0.612	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		6	45	0	0	0	0	6	45				
PCDH15	65217	broad.mit.edu	37	10	55955493	55955493	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr10:55955493T>G	ENST00000320301.6	-	11	1649	c.1255A>C	c.(1255-1257)Aat>Cat	p.N419H	PCDH15_ENST00000395433.1_Missense_Mutation_p.N397H|PCDH15_ENST00000395445.1_Missense_Mutation_p.N419H|PCDH15_ENST00000395430.1_Missense_Mutation_p.N419H|PCDH15_ENST00000437009.1_Missense_Mutation_p.N419H|PCDH15_ENST00000395446.1_Missense_Mutation_p.N419H|PCDH15_ENST00000395440.1_Missense_Mutation_p.N419H|PCDH15_ENST00000373965.2_Missense_Mutation_p.N419H|PCDH15_ENST00000373955.1_Missense_Mutation_p.N419H|PCDH15_ENST00000395432.2_Missense_Mutation_p.N382H|PCDH15_ENST00000409834.1_Missense_Mutation_p.N23H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.N419H|PCDH15_ENST00000361849.3_Missense_Mutation_p.N419H|PCDH15_ENST00000373957.3_Missense_Mutation_p.N397H|PCDH15_ENST00000414778.1_Missense_Mutation_p.N424H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAGTCAAATTGAGACTGTCC	0.368										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1255-1257)AAT>CAT		protocadherin 15 isoform CD1-4 precursor							127.0	119.0	122.0					10																	55955493		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55955493T>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1255A>C	10.37:g.55955493T>G	ENSP00000322604:p.Asn419His	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.N424H|PCDH15_uc010qhr.1_Missense_Mutation_p.N419H|PCDH15_uc010qhs.1_Missense_Mutation_p.N424H|PCDH15_uc010qht.1_Missense_Mutation_p.N419H|PCDH15_uc010qhu.1_Missense_Mutation_p.N419H|PCDH15_uc001jjv.1_Missense_Mutation_p.N397H|PCDH15_uc010qhv.1_Missense_Mutation_p.N419H|PCDH15_uc010qhw.1_Missense_Mutation_p.N382H|PCDH15_uc010qhx.1_Missense_Mutation_p.N419H|PCDH15_uc010qhy.1_Missense_Mutation_p.N424H|PCDH15_uc010qhz.1_Missense_Mutation_p.N419H|PCDH15_uc010qia.1_Missense_Mutation_p.N397H|PCDH15_uc010qib.1_Missense_Mutation_p.N397H|PCDH15_uc001jjw.2_Missense_Mutation_p.N419H	p.N419H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			11	1650	-		Melanoma(3;0.117)|Lung SC(717;0.238)	419			Cadherin 4.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1255A>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.908303	0.33721	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.39;0.66;0.66;0.36;0.36;0.66;0.58;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.07	3.94	0.45596	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.66963	0.2843	M	0.61703	1.905	0.28305	N	0.92296	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.993;0.999;1.0;0.999;0.999;0.999;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.996;0.994;0.992;0.99;0.994;0.999;0.992;0.971;0.971;0.986;0.996;0.976;0.992;0.99	T	0.58781	-0.7576	9	0.40728	T	0.16	.	10.3507	0.43934	0.0:0.0791:0.0:0.9209	.	397;419;419;424;419;382;419;419;419;419;419;424;419;397;419	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	419;424;419;419;23;419;419;419;382;419;397;397;419;419;424;419;419	ENSP00000363076:N419H;ENSP00000410304:N424H;ENSP00000378826:N419H;ENSP00000386693:N23H;ENSP00000378832:N419H;ENSP00000378833:N419H;ENSP00000378827:N419H;ENSP00000378820:N382H;ENSP00000354950:N419H;ENSP00000378821:N397H;ENSP00000363068:N397H;ENSP00000322604:N419H;ENSP00000378818:N419H;ENSP00000412628:N419H;ENSP00000363066:N419H	ENSP00000322604:N419H	N	-	1	0	PCDH15	55625499	1.000000	0.71417	0.668000	0.29813	0.077000	0.17291	3.414000	0.52693	0.790000	0.33803	0.482000	0.46254	AAT		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		14	43	0	0	0	0	14	43				
TET1	80312	broad.mit.edu	37	10	70333694	70333694	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr10:70333694C>T	ENST00000373644.4	+	2	1808	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	533	Sufficient for binding to genomic CpG islands.				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						TAGCCCAACTCTCTCAGGCTG	0.522																																						uc001jok.3		NA																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(1597-1599)CTC>CTT		CXXC finger 6							81.0	71.0	74.0					10																	70333694		2203	4300	6503	SO:0001819	synonymous_variant	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.chr10:70333694C>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.1599C>T	10.37:g.70333694C>T							p.L533L	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			2	2104	+			533			Sufficient for binding to genomic CpG islands.		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.1599C>T	CCDS7281.1																																																																																				0.522	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		11	74	0	0	0	0	11	74				
KIF20B	9585	broad.mit.edu	37	10	91532579	91532579	+	Silent	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr10:91532579A>G	ENST00000371728.3	+	32	5441	c.5376A>G	c.(5374-5376)tcA>tcG	p.S1792S	KIF20B_ENST00000416354.1_Silent_p.S1822S|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.S1752S	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1792	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTGATATATCAGGCCAAGTGG	0.328																																						uc001kgs.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5374-5376)TCA>TCG		M-phase phosphoprotein 1							140.0	139.0	139.0					10																	91532579		2203	4300	6503	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91532579A>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5376A>G	10.37:g.91532579A>G						KIF20B_uc001kgr.1_Silent_p.S1752S|KIF20B_uc001kgt.1_Silent_p.S1003S|KIF20B_uc009xtw.1_RNA	p.S1792S	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			32	5448	+			1792			Interaction with PIN1.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.5376A>G																																																																																					0.328	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		3	88	0	0	0	0	3	88				
PDCD11	22984	broad.mit.edu	37	10	105179454	105179454	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr10:105179454G>T	ENST00000369797.3	+	16	2360	c.2266G>T	c.(2266-2268)Gcc>Tcc	p.A756S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	756	S1 motif 8. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TAGCGGACTGGCCCCAAAAGC	0.488																																						uc001kwy.1		NA																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(2266-2268)GCC>TCC		programmed cell death 11							86.0	74.0	78.0					10																	105179454		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105179454G>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2266G>T	10.37:g.105179454G>T	ENSP00000358812:p.Ala756Ser						p.A756S	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	16	2353	+		Colorectal(252;0.0747)|Breast(234;0.128)	756			S1 motif 8.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.2266G>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475258	0.43942	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.41758	0.99	5.78	3.77	0.43336	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.148317	0.64402	N	0.000010	T	0.41766	0.1173	L	0.43646	1.37	0.42761	D	0.993805	B	0.32604	0.377	B	0.41691	0.364	T	0.28964	-1.0027	10	0.26408	T	0.33	-14.1953	14.2926	0.66289	0.0:0.0:0.7216:0.2784	.	756	Q14690	RRP5_HUMAN	S	756	ENSP00000358812:A756S	ENSP00000358812:A756S	A	+	1	0	PDCD11	105169444	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	5.471000	0.66762	1.391000	0.46566	0.561000	0.74099	GCC		0.488	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			10	54	1	0	4.69e-08	9.62e-08	10	54				
PHRF1	57661	broad.mit.edu	37	11	605263	605263	+	Missense_Mutation	SNP	C	C	G	rs367910054		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:605263C>G	ENST00000264555.5	+	11	1425	c.1297C>G	c.(1297-1299)Ctg>Gtg	p.L433V	PHRF1_ENST00000413872.2_Missense_Mutation_p.L432V|PHRF1_ENST00000416188.2_Missense_Mutation_p.L433V|PHRF1_ENST00000533464.1_Missense_Mutation_p.L429V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	433					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTCTCTGTCTCTGTTTGGAGA	0.607																																						uc001lqe.2		NA																	0					0						c.(1297-1299)CTG>GTG		PHD and ring finger domains 1							84.0	92.0	90.0					11																	605263		2049	4197	6246	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:605263C>G	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1297C>G	11.37:g.605263C>G	ENSP00000264555:p.Leu433Val					PHRF1_uc010qwc.1_Missense_Mutation_p.L433V|PHRF1_uc010qwd.1_Missense_Mutation_p.L432V|PHRF1_uc010qwe.1_Missense_Mutation_p.L429V|PHRF1_uc009ybz.1_Missense_Mutation_p.L224V|PHRF1_uc009yca.1_5'Flank	p.L433V	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			11	1428	+			433					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1297C>G		.	.	.	.	.	.	.	.	.	.	C	0.015	-1.553105	0.00918	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.79454	-1.27;-1.23;-1.26;-1.27	4.65	-0.759	0.11045	.	1.036540	0.07793	N	0.955253	T	0.53417	0.1795	N	0.04880	-0.145	0.23478	N	0.997597	B;B;B;B	0.22146	0.038;0.065;0.065;0.038	B;B;B;B	0.22753	0.018;0.041;0.041;0.018	T	0.37663	-0.9696	10	0.02654	T	1	-8.2586	11.3733	0.49713	0.0:0.1999:0.6451:0.155	.	429;432;433;433	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	433;432;433;429	ENSP00000264555:L433V;ENSP00000388589:L432V;ENSP00000410626:L433V;ENSP00000431870:L429V	ENSP00000264555:L433V	L	+	1	2	PHRF1	595263	0.582000	0.26749	0.018000	0.16275	0.411000	0.31082	0.965000	0.29319	-0.326000	0.08564	-0.300000	0.09419	CTG		0.607	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		38	97	0	0	0	0	38	97				
BRSK2	9024	broad.mit.edu	37	11	1475777	1475777	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:1475777T>C	ENST00000528841.1	+	16	1991	c.1607T>C	c.(1606-1608)gTg>gCg	p.V536A	BRSK2_ENST00000544817.1_Missense_Mutation_p.V231A|BRSK2_ENST00000308230.5_Missense_Mutation_p.V558A|BRSK2_ENST00000382179.1_Missense_Mutation_p.V582A|BRSK2_ENST00000531197.1_Missense_Mutation_p.V536A|BRSK2_ENST00000526678.1_Missense_Mutation_p.V558A|BRSK2_ENST00000308219.9_Missense_Mutation_p.V536A|BRSK2_ENST00000528710.1_Missense_Mutation_p.V476A			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	536					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CAGATCTTCGTGGTCATCAAA	0.602																																						uc001lti.2		NA																	0					0						c.(1606-1608)GTG>GCG		BR serine/threonine kinase 2							63.0	72.0	69.0					11																	1475777		2080	4224	6304	SO:0001583	missense	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1475777T>C	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1607T>C	11.37:g.1475777T>C	ENSP00000432000:p.Val536Ala					BRSK2_uc009ycv.1_Missense_Mutation_p.V558A|BRSK2_uc001lth.1_Missense_Mutation_p.V536A|BRSK2_uc001ltj.2_Missense_Mutation_p.V536A|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.V536A|BRSK2_uc001ltm.2_Missense_Mutation_p.V582A|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA|BRSK2_uc009ycw.2_Missense_Mutation_p.V32A	p.V536A	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	16	1993	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	536					B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	ENST00000528841.1	37	c.1607T>C	CCDS58107.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751079	0.49257	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	T;T;T;T;T;T;T;T	0.78595	-1.09;-1.12;-1.19;-1.12;-1.19;-0.93;-0.98;0.46	3.57	1.12	0.20585	.	0.250245	0.32593	U	0.005899	T	0.75243	0.3823	M	0.71581	2.175	0.42668	D	0.9935	B;P;B;B;B	0.39480	0.256;0.675;0.119;0.271;0.119	B;B;B;B;B	0.42522	0.287;0.39;0.197;0.15;0.108	T	0.72050	-0.4407	10	0.72032	D	0.01	.	7.7538	0.28913	0.0:0.1825:0.0:0.8175	.	558;582;536;536;536	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	A	536;536;558;536;558;476;582;231	ENSP00000310697:V536A;ENSP00000431152:V536A;ENSP00000310805:V558A;ENSP00000432000:V536A;ENSP00000433370:V558A;ENSP00000433235:V476A;ENSP00000371614:V582A;ENSP00000445168:V231A	ENSP00000310697:V536A	V	+	2	0	BRSK2	1432353	1.000000	0.71417	0.960000	0.40013	0.930000	0.56654	5.742000	0.68646	0.040000	0.15660	0.260000	0.18958	GTG		0.602	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		12	41	0	0	0	0	12	41				
IPO7	10527	broad.mit.edu	37	11	9435863	9435863	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:9435863C>T	ENST00000379719.3	+	5	683	c.541C>T	c.(541-543)Cta>Tta	p.L181L		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	181					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TCTGCCAGTTCTAAAGGATCG	0.388																																						uc001mho.2		NA																	0				lung(1)|breast(1)	2						c.(541-543)CTA>TTA		importin 7							115.0	107.0	110.0					11																	9435863		2201	4296	6497	SO:0001819	synonymous_variant	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9435863C>T	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.541C>T	11.37:g.9435863C>T							p.L181L	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	5	683	+			181					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	ENST00000379719.3	37	c.541C>T	CCDS31425.1																																																																																				0.388	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		20	60	0	0	0	0	20	60				
MRGPRX3	117195	broad.mit.edu	37	11	18159571	18159571	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:18159571C>T	ENST00000396275.2	+	3	1183	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTTACTTCTTCGTGGGCTCCT	0.512																																						uc001mnu.2		NA																	0				ovary(1)|pancreas(1)	2						c.(820-822)TTC>TTT		MAS-related GPR, member X3							68.0	72.0	71.0					11																	18159571		2200	4290	6490	SO:0001819	synonymous_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159571C>T		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.822C>T	11.37:g.18159571C>T							p.F274F	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	1183	+			274			Helical; Name=7; (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	c.822C>T	CCDS7830.1																																																																																				0.512	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		30	89	0	0	0	0	30	89				
OR10AG1	282770	broad.mit.edu	37	11	55735369	55735369	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:55735369G>A	ENST00000312345.2	-	1	621	c.571C>T	c.(571-573)Cat>Tat	p.H191Y		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GCTACTACATGGACTGTTATC	0.398																																						uc010rit.1		NA																	0				skin(2)	2						c.(571-573)CAT>TAT		olfactory receptor, family 10, subfamily AG,							88.0	87.0	87.0					11																	55735369		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735369G>A	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.571C>T	11.37:g.55735369G>A	ENSP00000311477:p.His191Tyr						p.H191Y	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	571	-	Esophageal squamous(21;0.0137)		191			Helical; Name=5; (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.571C>T	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.255117	0.00265	.	.	ENSG00000174970	ENST00000312345	T	0.00039	8.85	5.37	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.262304	0.27554	N	0.018844	T	0.00039	0.0001	N	0.00268	-1.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20042	-1.0287	10	0.07813	T	0.8	.	5.2525	0.15529	0.6822:0.151:0.1668:0.0	.	191	Q8NH19	O10AG_HUMAN	Y	191	ENSP00000311477:H191Y	ENSP00000311477:H191Y	H	-	1	0	OR10AG1	55491945	0.000000	0.05858	0.101000	0.21167	0.192000	0.23643	0.489000	0.22387	0.377000	0.24735	-0.499000	0.04595	CAT		0.398	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		9	36	0	0	0	0	9	36				
TCIRG1	10312	broad.mit.edu	37	11	67817516	67817516	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:67817516G>A	ENST00000265686.3	+	17	2209	c.2101G>A	c.(2101-2103)Gat>Aat	p.D701N	TCIRG1_ENST00000532635.1_Missense_Mutation_p.D485N|RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	701					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGGCCTGGATGATGAAGAGGA	0.672																																						uc001one.2		NA																	0				ovary(1)	1						c.(2101-2103)GAT>AAT		T-cell, immune regulator 1 isoform a							40.0	42.0	41.0					11																	67817516		2200	4294	6494	SO:0001583	missense	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67817516G>A	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2101G>A	11.37:g.67817516G>A	ENSP00000265686:p.Asp701Asn					TCIRG1_uc001ong.2_Missense_Mutation_p.D485N|TCIRG1_uc001onh.2_Missense_Mutation_p.D403N|TCIRG1_uc001oni.2_Missense_Mutation_p.D205N|TCIRG1_uc009ysd.2_RNA	p.D701N	NM_006019	NP_006010	Q13488	VPP3_HUMAN			17	2209	+			701			Lumenal (Potential).		O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.2101G>A	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453233	0.26161	.	.	ENSG00000110719	ENST00000265686;ENST00000532635;ENST00000546315;ENST00000530063	D;D;D	0.88818	-1.92;-2.43;-1.85	4.21	2.3	0.28687	.	0.827421	0.11013	N	0.609227	D	0.82600	0.5072	L	0.39147	1.195	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.69472	-0.5136	10	0.38643	T	0.18	-11.8932	6.9294	0.24434	0.0981:0.1768:0.7251:0.0	.	701	Q13488	VPP3_HUMAN	N	701;485;59;2	ENSP00000265686:D701N;ENSP00000434407:D485N;ENSP00000432957:D2N	ENSP00000265686:D701N	D	+	1	0	TCIRG1	67574092	0.000000	0.05858	0.001000	0.08648	0.037000	0.13140	0.204000	0.17335	0.533000	0.28675	0.462000	0.41574	GAT		0.672	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		10	27	0	0	0	0	10	27				
GDPD5	81544	broad.mit.edu	37	11	75152748	75152748	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:75152748C>T	ENST00000336898.3	-	13	2105	c.1268G>A	c.(1267-1269)aGa>aAa	p.R423K	GDPD5_ENST00000376282.3_Missense_Mutation_p.R304K|GDPD5_ENST00000533805.1_Missense_Mutation_p.R178K|GDPD5_ENST00000529721.1_Missense_Mutation_p.R423K|GDPD5_ENST00000533784.1_Missense_Mutation_p.R304K|GDPD5_ENST00000526177.1_Missense_Mutation_p.R285K|GDPD5_ENST00000443276.2_3'UTR	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	423	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GATGTGGCCTCTCCGCAGGCT	0.672																																						uc001owo.3		NA																	0				ovary(1)	1						c.(1267-1269)AGA>AAA		glycerophosphodiester phosphodiesterase domain							32.0	30.0	30.0					11																	75152748		2200	4292	6492	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75152748C>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1268G>A	11.37:g.75152748C>T	ENSP00000337972:p.Arg423Lys					GDPD5_uc001owp.3_Missense_Mutation_p.R423K|GDPD5_uc001own.3_Missense_Mutation_p.R178K|GDPD5_uc009yuc.2_Missense_Mutation_p.R285K|GDPD5_uc009yud.2_Missense_Mutation_p.R304K	p.R423K	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN			14	1805	-			423			Extracellular (Potential).|GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.1268G>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	c	5.399	0.258862	0.10239	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;2.81;2.81	5.14	-1.72	0.08107	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.568641	0.19334	N	0.116821	T	0.03783	0.0107	N	0.08118	0	0.24556	N	0.993991	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.43829	-0.9367	10	0.02654	T	1	-0.188	10.2922	0.43603	0.0:0.3996:0.0:0.6004	.	304;423	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	K	285;304;423;423;178;304;7	ENSP00000434050:R285K;ENSP00000437049:R304K;ENSP00000433214:R423K;ENSP00000337972:R423K;ENSP00000435196:R178K;ENSP00000365459:R304K;ENSP00000435728:R7K	ENSP00000337972:R423K	R	-	2	0	GDPD5	74830396	0.000000	0.05858	0.401000	0.26359	0.942000	0.58702	0.337000	0.19841	-0.541000	0.06257	-0.269000	0.10298	AGA		0.672	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		6	13	0	0	0	0	6	13				
ATM	472	broad.mit.edu	37	11	108236053	108236053	+	Splice_Site	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:108236053G>A	ENST00000452508.2	+	64	9178	c.8989G>A	c.(8989-8991)Gat>Aat	p.D2997N	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Splice_Site_p.D2997N|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2997					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTCCTTAGTGATATTGACCA	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8989-8991)GAT>AAT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							110.0	107.0	108.0					11																	108236053		2201	4298	6499	SO:0001630	splice_region_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108236053G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8988-1G>A	11.37:g.108236053G>A		TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.D2997N|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.D1649N	p.D2997N	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	63	9374	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2997					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8989G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027666	0.35797	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01560	4.77;4.77	5.22	4.27	0.50696	Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.506686	0.22660	N	0.057201	T	0.02267	0.0070	M	0.63843	1.955	0.80722	D	1	P	0.41041	0.736	B	0.33042	0.157	T	0.59768	-0.7392	10	0.27785	T	0.31	.	10.6989	0.45915	0.0848:0.1486:0.7665:0.0	.	2997	Q13315	ATM_HUMAN	N	2997	ENSP00000278616:D2997N;ENSP00000388058:D2997N	ENSP00000278616:D2997N	D	+	1	0	ATM	107741263	1.000000	0.71417	0.990000	0.47175	0.244000	0.25665	4.162000	0.58177	2.726000	0.93360	0.650000	0.86243	GAT		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Missense_Mutation	22	33	0	0	0	0	22	33				
CCDC15	80071	broad.mit.edu	37	11	124908467	124908467	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr11:124908467G>C	ENST00000344762.5	+	14	2811	c.2552G>C	c.(2551-2553)aGa>aCa	p.R851T	CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000529051.1_Missense_Mutation_p.R851T	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	851						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAAGGAACCAGAGAAAAACAA	0.358																																						uc001qbm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2551-2553)AGA>ACA		coiled-coil domain containing 15							31.0	27.0	28.0					11																	124908467		1805	4074	5879	SO:0001583	missense	80071					centrosome		g.chr11:124908467G>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2552G>C	11.37:g.124908467G>C	ENSP00000341684:p.Arg851Thr						p.R851T	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	14	2811	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	851			Potential.		Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.2552G>C	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102237	0.56183	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.34472	1.41;1.36	5.0	1.91	0.25777	.	.	.	.	.	T	0.35008	0.0917	L	0.47716	1.5	0.24410	N	0.994669	P	0.48016	0.904	P	0.49887	0.625	T	0.19031	-1.0318	9	0.54805	T	0.06	0.4313	2.844	0.05538	0.1744:0.1396:0.5434:0.1426	.	851	Q0P6D6	CCD15_HUMAN	T	851	ENSP00000435403:R851T;ENSP00000341684:R851T	ENSP00000341684:R851T	R	+	2	0	CCDC15	124413677	0.925000	0.31364	0.998000	0.56505	0.899000	0.52679	0.475000	0.22164	0.620000	0.30215	0.467000	0.42956	AGA		0.358	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		5	1	0	0	0	0	5	1				
RAD51AP1	10635	broad.mit.edu	37	12	4657916	4657916	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:4657916C>G	ENST00000544927.1	+	6	480	c.470C>G	c.(469-471)tCt>tGt	p.S157C	RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S174C|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S39C|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S157C|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.S174C					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AAAGCAGCATCTAAAGCTGCA	0.413																																						uc001qmw.2		NA																	0					0						c.(520-522)TCT>TGT		RAD51 associated protein 1 isoform a							188.0	189.0	189.0					12																	4657916		2203	4300	6503	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4657916C>G	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.470C>G	12.37:g.4657916C>G	ENSP00000446296:p.Ser157Cys					RAD51AP1_uc001qmu.2_Missense_Mutation_p.S157C|RAD51AP1_uc001qmv.2_Missense_Mutation_p.S120C|RAD51AP1_uc010sep.1_Missense_Mutation_p.S39C|RAD51AP1_uc010seq.1_Missense_Mutation_p.S39C|RAD51AP1_uc009zeg.2_5'Flank	p.S174C	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		7	677	+			174						Missense_Mutation	SNP	ENST00000544927.1	37	c.521C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.983832|3.983832	0.74474|0.74474	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000536117|ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618;ENST00000544927	.|T;T;T;T;T	.|0.35236	.|1.32;1.32;1.32;1.32;1.32	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.551303	.|0.18417	.|N	.|0.141879	T|T	0.60996|0.60996	0.2312|0.2312	M|M	0.79258|0.79258	2.445|2.445	0.42028|0.42028	D|D	0.991014|0.991014	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.999;0.999	.|D;D;D;D	.|0.85130	.|0.997;0.958;0.958;0.939	T|T	0.64635|0.64635	-0.6361|-0.6361	5|10	.|0.87932	.|D	.|0	-13.8664|-13.8664	13.5863|13.5863	0.61933|0.61933	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|39;174;174;157	.|B4DUS5;Q96B01;A8K313;Q96B01-2	.|.;R51A1_HUMAN;.;.	M|C	151|174;39;174;157;157	.|ENSP00000323750:S174C;ENSP00000439960:S39C;ENSP00000228843:S174C;ENSP00000309479:S157C;ENSP00000446296:S157C	.|ENSP00000228843:S174C	I|S	+|+	3|2	3|0	RAD51AP1|RAD51AP1	4528177|4528177	0.650000|0.650000	0.27331|0.27331	0.981000|0.981000	0.43875|0.43875	0.992000|0.992000	0.81027|0.81027	2.350000|2.350000	0.44063|0.44063	2.571000|2.571000	0.86741|0.86741	0.557000|0.557000	0.71058|0.71058	ATC|TCT		0.413	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479		22	68	0	0	0	0	22	68				
ANO2	57101	broad.mit.edu	37	12	5744499	5744499	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:5744499G>A	ENST00000356134.5	-	18	1709	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Silent_p.F545F|ANO2_ENST00000546188.1_Silent_p.F546F	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	550					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGACGATTGAGAATGTCAGGG	0.478																																						uc001qnm.2		NA																	0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1633-1635)TTC>TTT		anoctamin 2							75.0	72.0	73.0					12																	5744499		1961	4157	6118	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5744499G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1638C>T	12.37:g.5744499G>A							p.F545F	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			17	1707	-			550			Helical; (Potential).		C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.1635C>T																																																																																					0.478	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		10	16	0	0	0	0	10	16				
CLSTN3	9746	broad.mit.edu	37	12	7303242	7303242	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:7303242C>T	ENST00000266546.6	+	15	2798	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	CLSTN3_ENST00000537408.1_Missense_Mutation_p.S795L	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	783					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTTTCCTGCTCGGAAATGAAT	0.547																																						uc001qsr.2		NA																	0				large_intestine(1)	1						c.(2347-2349)TCG>TTG		calsyntenin 3 precursor							87.0	84.0	85.0					12																	7303242		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7303242C>T	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2348C>T	12.37:g.7303242C>T	ENSP00000266546:p.Ser783Leu					CLSTN3_uc001qss.2_Missense_Mutation_p.S795L	p.S783L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			15	2626	+			783			Extracellular (Potential).		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2348C>T	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977069	0.92982	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.27402	1.67;1.67	5.22	5.22	0.72569	.	0.203048	0.43260	D	0.000590	T	0.53110	0.1776	M	0.73430	2.235	0.58432	D	0.999999	P;D	0.69078	0.814;0.997	B;P	0.62813	0.105;0.907	T	0.57010	-0.7884	10	0.87932	D	0	-12.3816	14.7179	0.69284	0.0:0.8553:0.1446:0.0	.	795;783	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	L	783;795	ENSP00000266546:S783L;ENSP00000440679:S795L	ENSP00000266546:S783L	S	+	2	0	CLSTN3	7194509	1.000000	0.71417	0.962000	0.40283	0.988000	0.76386	5.966000	0.70395	2.591000	0.87537	0.455000	0.32223	TCG		0.547	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		44	105	0	0	0	0	44	105				
SLCO1C1	53919	broad.mit.edu	37	12	20893267	20893267	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:20893267C>T	ENST00000266509.2	+	12	2066	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S	SLCO1C1_ENST00000545102.1_Silent_p.S448S|SLCO1C1_ENST00000545604.1_Silent_p.S566S|SLCO1C1_ENST00000540354.1_Silent_p.S517S|SLCO1C1_ENST00000381552.1_Silent_p.S566S	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	566					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)			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)	ATACTTTATCCCTAGGTGGCA	0.378																																						uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1696-1698)TCC>TCT		solute carrier organic anion transporter family,							186.0	180.0	182.0					12																	20893267		2203	4300	6503	SO:0001819	synonymous_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20893267C>T	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.1698C>T	12.37:g.20893267C>T						SLCO1C1_uc010sii.1_Silent_p.S566S|SLCO1C1_uc010sij.1_Silent_p.S517S|SLCO1C1_uc009zip.2_Silent_p.S400S|SLCO1C1_uc001rei.2_Silent_p.S566S|SLCO1C1_uc010sik.1_Silent_p.S448S	p.S566S	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			13	2053	+	Esophageal squamous(101;0.149)		566			Helical; Name=10; (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.1698C>T	CCDS8683.1																																																																																				0.378	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		31	93	0	0	0	0	31	93				
DIP2B	57609	broad.mit.edu	37	12	51080375	51080375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:51080375G>A	ENST00000301180.5	+	12	1495	c.1461G>A	c.(1459-1461)tgG>tgA	p.W487*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	487						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGCTCAAATGGGTTGTAACAG	0.448																																						uc001rwv.2		NA																	0				ovary(4)|breast(1)|pancreas(1)	6						c.(1459-1461)TGG>TGA		DIP2 disco-interacting protein 2 homolog B							81.0	73.0	75.0					12																	51080375		2203	4300	6503	SO:0001587	stop_gained	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51080375G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1461G>A	12.37:g.51080375G>A	ENSP00000301180:p.Trp487*					DIP2B_uc009zlt.2_5'UTR	p.W487*	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			12	1617	+			487					Q6B011|Q8N1L5|Q8NB38	Nonsense_Mutation	SNP	ENST00000301180.5	37	c.1461G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974546	0.74246	.	.	ENSG00000066084	ENST00000301180	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1673	17.8742	0.88819	0.0:0.0:1.0:0.0	.	.	.	.	X	487	.	ENSP00000301180:W487X	W	+	3	0	DIP2B	49366642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.507000	0.97996	2.520000	0.84964	0.585000	0.79938	TGG		0.448	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		17	22	0	0	0	0	17	22				
CS	1431	broad.mit.edu	37	12	56669923	56669923	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:56669923C>G	ENST00000351328.3	-	7	835	c.645G>C	c.(643-645)aaG>aaC	p.K215N	CS_ENST00000548567.1_Missense_Mutation_p.K149N|CS_ENST00000542324.2_Missense_Mutation_p.K202N	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	215					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TTCGGTAGATCTTTGCTGCAA	0.418																																						uc001sks.1		NA																	0					0						c.(643-645)AAG>AAC		citrate synthase precursor							114.0	100.0	105.0					12																	56669923		2203	4300	6503	SO:0001583	missense	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56669923C>G		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.645G>C	12.37:g.56669923C>G	ENSP00000342056:p.Lys215Asn					CS_uc010sql.1_Missense_Mutation_p.K202N|CS_uc001skr.1_Missense_Mutation_p.K149N|CS_uc001skt.1_Missense_Mutation_p.K170N|CS_uc010sqm.1_Missense_Mutation_p.K149N	p.K215N	NM_004077	NP_004068	O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	7	835	-		Myeloproliferative disorder(1001;0.000374)	215					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	c.645G>C	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799796	0.70567	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324;ENST00000549221	.	.	.	5.26	4.37	0.52481	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.61387	1.9	0.58432	D	0.999997	P;B;P;B	0.45902	0.868;0.372;0.868;0.372	P;B;P;B	0.49301	0.606;0.226;0.606;0.226	T	0.60214	-0.7307	9	0.30078	T	0.28	-17.7595	12.9348	0.58307	0.0:0.92:0.0:0.08	.	149;202;170;215	B7Z1E1;B4DJV2;B3KTN4;O75390	.;.;.;CISY_HUMAN	N	149;215;202;140	.	ENSP00000342056:K215N	K	-	3	2	CS	54956190	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.812000	0.55628	1.360000	0.45960	0.555000	0.69702	AAG		0.418	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		21	30	0	0	0	0	21	30				
LRP1	4035	broad.mit.edu	37	12	57548365	57548365	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:57548365C>T	ENST00000243077.3	+	8	1574	c.1108C>T	c.(1108-1110)Cat>Tat	p.H370Y	LRP1_ENST00000554174.1_Missense_Mutation_p.H370Y	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	370					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGTTTCCTCATGGCATCAC	0.547																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(1108-1110)CAT>TAT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						100.0	71.0	81.0					12																	57548365		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57548365C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.1108C>T	12.37:g.57548365C>T	ENSP00000243077:p.His370Tyr					LRP1_uc001snc.1_Missense_Mutation_p.H370Y	p.H370Y	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	8	1574	+			370			LDL-receptor class B 2.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.1108C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	c	6.223	0.409253	0.11812	.	.	ENSG00000123384	ENST00000243077;ENST00000554174	D;D	0.95885	-2.77;-3.84	4.53	4.53	0.55603	Six-bladed beta-propeller, TolB-like (1);	0.071857	0.52532	D	0.000063	D	0.95497	0.8537	L	0.49640	1.575	0.37192	D	0.90396	P;D	0.57571	0.818;0.98	B;P	0.55667	0.14;0.781	D	0.95739	0.8781	10	0.37606	T	0.19	.	15.1647	0.72814	0.0:1.0:0.0:0.0	.	370;370	Q07954;Q6PJ72	LRP1_HUMAN;.	Y	370	ENSP00000243077:H370Y;ENSP00000451737:H370Y	ENSP00000243077:H370Y	H	+	1	0	LRP1	55834632	0.996000	0.38824	0.992000	0.48379	0.992000	0.81027	3.920000	0.56446	2.521000	0.84997	0.650000	0.86243	CAT		0.547	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		9	10	0	0	0	0	9	10				
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:122812709C>T	ENST00000540338.1	-	16	3075	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	CLIP1_ENST00000537178.1_Splice_Site_p.E966K|CLIP1_ENST00000545889.1_Splice_Site_p.E587K|CLIP1_ENST00000302528.7_Splice_Site_p.E1001K|CLIP1_ENST00000358808.2_Splice_Site_p.E1001K|CLIP1_ENST00000361654.4_Splice_Site_p.E890K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1012					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)	p.E1001K(1)		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)		ATTTTCTTTTCCTGCAGAGAC	0.493																																						uc001ucg.1		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(2)|breast(1)	3						c.(3034-3036)GAA>AAA		restin isoform a							158.0	159.0	159.0					12																	122812709		2203	4300	6503	SO:0001630	splice_region_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.chr12:122812709C>T		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.3034-1G>A	12.37:g.122812709C>T						CLIP1_uc001uch.1_Missense_Mutation_p.E1001K|CLIP1_uc001uci.1_Missense_Mutation_p.E966K|CLIP1_uc001ucj.1_Missense_Mutation_p.E587K	p.E1012K	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3140	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1012			Potential.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.3034G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008438	0.35415	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.53640	2.7;0.63;0.63;0.61;0.66	5.35	5.35	0.76521	.	0.167889	0.52532	D	0.000067	T	0.30039	0.0752	N	0.21097	0.63	0.45837	D	0.998705	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.19946	0.027;0.004;0.006	T	0.11817	-1.0572	10	0.09843	T	0.71	-11.8769	9.7516	0.40478	0.0:0.8405:0.0:0.1595	.	966;1001;1012	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	K	587;1001;1001;731;43;966;1012	ENSP00000438743:E587K;ENSP00000303585:E1001K;ENSP00000351665:E1001K;ENSP00000445531:E966K;ENSP00000439093:E1012K	ENSP00000303585:E1001K	E	-	1	0	CLIP1	121378662	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.787000	0.47798	2.659000	0.90383	0.655000	0.94253	GAA		0.493	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956	Missense_Mutation	17	155	0	0	0	0	17	155				
SFSWAP	6433	broad.mit.edu	37	12	132239043	132239043	+	Splice_Site	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:132239043A>G	ENST00000261674.4	+	9	1594	c.1453A>G	c.(1453-1455)Aga>Gga	p.R485G	RP11-495K9.5_ENST00000537032.1_lincRNA|SFSWAP_ENST00000541286.1_Splice_Site_p.R485G	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	485					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GAATGATCAAAGGTCAGAAGA	0.433																																						uc001uja.1		NA																	0					0						c.(1453-1455)AGA>GGA		splicing factor, arginine/serine-rich 8							55.0	58.0	57.0					12																	132239043		2203	4300	6503	SO:0001630	splice_region_variant	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132239043A>G	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1454+1A>G	12.37:g.132239043A>G						SFRS8_uc010tbn.1_Missense_Mutation_p.R485G|SFRS8_uc001ujb.1_Missense_Mutation_p.R278G|SFRS8_uc001uiz.1_3'UTR	p.R485G	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	9	1593	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		485			SURP motif 2.		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.1453A>G	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907014	0.72868	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.49139	0.79;0.79;0.79	5.65	4.49	0.54785	SWAP/Surp (3);	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.69083	-0.5239	10	0.72032	D	0.01	-32.4695	12.8626	0.57922	0.8638:0.1362:0.0:0.0	.	485;485	F5H6B8;Q12872	.;SFSWA_HUMAN	G	485;422;278;485	ENSP00000261674:R485G;ENSP00000443045:R278G;ENSP00000437738:R485G	ENSP00000261674:R485G	R	+	1	2	SFSWAP	130804996	1.000000	0.71417	0.969000	0.41365	0.898000	0.52572	5.782000	0.68973	0.944000	0.37579	0.460000	0.39030	AGA		0.433	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592	Missense_Mutation	23	30	0	0	0	0	23	30				
PUS1	80324	broad.mit.edu	37	12	132414283	132414283	+	Missense_Mutation	SNP	C	C	T	rs587781135		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr12:132414283C>T	ENST00000376649.3	+	1	516	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	RP11-417L19.4_ENST00000539078.1_lincRNA|PUS1_ENST00000535067.1_5'Flank|PUS1_ENST00000443358.2_Intron|PUS1_ENST00000440818.2_Intron|PUS1_ENST00000542167.2_Intron	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	6					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCTCCAGCTTCGCGCGCTGTT	0.726																																					Esophageal Squamous(102;671 2009 17384 45666)	uc001ujf.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(16-18)CGC>TGC		pseudouridine synthase 1 isoform 1							31.0	37.0	35.0					12																	132414283		2202	4298	6500	SO:0001583	missense	80324					mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding	g.chr12:132414283C>T	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.16C>T	12.37:g.132414283C>T	ENSP00000365837:p.Arg6Cys					PUS1_uc001ujg.2_Intron|PUS1_uc001ujh.2_Intron|PUS1_uc001uji.2_5'Flank	p.R6C	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)	1	495	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		6					A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	37	c.16C>T	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544971	0.65198	.	.	ENSG00000177192	ENST00000376649;ENST00000544213	T;T	0.57595	0.45;0.39	2.85	-2.45	0.06481	.	.	.	.	.	T	0.24005	0.0581	N	0.08118	0	0.09310	N	0.999995	P	0.36789	0.57	B	0.18561	0.022	T	0.08432	-1.0722	9	0.72032	D	0.01	-2.5541	9.2846	0.37749	0.1056:0.5821:0.3123:0.0	.	6	Q9Y606	TRUA_HUMAN	C	6	ENSP00000365837:R6C;ENSP00000445819:R6C	ENSP00000365837:R6C	R	+	1	0	PUS1	130980236	0.002000	0.14202	0.000000	0.03702	0.174000	0.22865	0.052000	0.14163	-0.371000	0.08004	0.306000	0.20318	CGC		0.726	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215		13	15	0	0	0	0	13	15				
IFT88	8100	broad.mit.edu	37	13	21217595	21217595	+	Splice_Site	SNP	T	T	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr13:21217595T>G	ENST00000319980.6	+	21	2038	c.1711T>G	c.(1711-1713)Tat>Gat	p.Y571D	IFT88_ENST00000382778.4_Splice_Site_p.Y571D|IFT88_ENST00000537103.1_Splice_Site_p.Y543D|IFT88_ENST00000351808.5_Splice_Site_p.Y562D	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	571					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TTGCATAAGATATGAATTAAT	0.323																																						uc001unh.2		NA																	0				ovary(1)	1						c.(1711-1713)TAT>GAT		intraflagellar transport 88 homolog isoform 1							97.0	93.0	95.0					13																	21217595		2203	4300	6503	SO:0001630	splice_region_variant	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21217595T>G	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1710-1T>G	13.37:g.21217595T>G						IFT88_uc001uni.2_Missense_Mutation_p.Y562D|IFT88_uc001unj.2_Missense_Mutation_p.Y561D|IFT88_uc010tcq.1_Missense_Mutation_p.Y542D	p.Y571D	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	21	2107	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	571			TPR 9.		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.1711T>G	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176621	0.57692	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	D;T;T;T	0.81821	-1.54;0.0;0.0;0.0	5.83	4.66	0.58398	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.124066	0.56097	D	0.000028	D	0.88074	0.6339	M	0.80422	2.495	0.80722	D	1	P;D	0.69078	0.946;0.997	P;D	0.63793	0.603;0.918	D	0.88202	0.2884	10	0.56958	D	0.05	-11.2009	11.662	0.51352	0.0:0.0691:0.0:0.9309	.	543;571	F5H6C2;Q13099	.;IFT88_HUMAN	D	571;562;571;543	ENSP00000372228:Y571D;ENSP00000261632:Y562D;ENSP00000323580:Y571D;ENSP00000437719:Y543D	ENSP00000323580:Y571D	Y	+	1	0	IFT88	20115595	1.000000	0.71417	0.994000	0.49952	0.584000	0.36387	6.193000	0.72075	1.037000	0.40024	0.455000	0.32223	TAT		0.323	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	NM_006531	Missense_Mutation	20	16	0	0	0	0	20	16				
PHF11	51131	broad.mit.edu	37	13	50100528	50100528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr13:50100528G>T	ENST00000378319.3	+	9	816	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	PHF11_ENST00000357596.3_Nonsense_Mutation_p.E220*|PHF11_ENST00000488958.1_Nonsense_Mutation_p.E220*	NM_001040443.1	NP_001035533.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		TCCAGACTATGAAGAAATCGG	0.353																																						uc001vdb.2		NA																	0					0						c.(775-777)GAA>TAA		PHD finger protein 11 isoform a							91.0	89.0	90.0					13																	50100528		2203	4300	6503	SO:0001587	stop_gained	51131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr13:50100528G>T	AB011031	CCDS31975.1, CCDS41887.1	13q14.11	2014-05-20			ENSG00000136147	ENSG00000136147		"""Zinc fingers, PHD-type"""	17024	protein-coding gene	gene with protein product	"""IgE responsiveness (atopic)"""	607796				10508479, 15057823	Standard	XM_005266417		Approved	NY-REN-34, BCAP, IGER	uc001vdb.3	Q9UIL8	OTTHUMG00000016916	ENST00000378319.3:c.775G>T	13.37:g.50100528G>T	ENSP00000367570:p.Glu259*					PHF11_uc001vdc.2_Nonsense_Mutation_p.E220*|PHF11_uc001vdd.2_RNA	p.E259*	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)	9	1112	+		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	259					Q5W0A4|Q5W0A6|Q9Y5A2	Nonsense_Mutation	SNP	ENST00000378319.3	37	c.775G>T	CCDS31975.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.117300|4.117300	0.77323|0.77323	.|.	.|.	ENSG00000136147|ENSG00000136147	ENST00000378319;ENST00000357596;ENST00000488958|ENST00000426879	.|.	.|.	.|.	4.31|4.31	2.43|2.43	0.29744|0.29744	.|.	0.087653|.	0.43747|.	D|.	0.000538|.	.|T	.|0.44117	.|0.1278	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53620	.|-0.8413	.|3	0.59425|.	D|.	0.04|.	-24.9829|-24.9829	8.5549|8.5549	0.33476|0.33476	0.0863:0.1532:0.7605:0.0|0.0863:0.1532:0.7605:0.0	.|.	.|.	.|.	.|.	X|I	259;220;220|213	.|.	ENSP00000350209:E220X|.	E|M	+|+	1|3	0|0	PHF11|PHF11	48998529|48998529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.417000|0.417000	0.31264|0.31264	2.788000|2.788000	0.47806|0.47806	1.168000|1.168000	0.42723|0.42723	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.353	PHF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044915.1	NM_016119		3	10	1	0	0.004672	0.00911403	3	10				
SEC23A	10484	broad.mit.edu	37	14	39565170	39565170	+	Silent	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:39565170T>C	ENST00000307712.6	-	2	670	c.153A>G	c.(151-153)ttA>ttG	p.L51L	SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000545328.2_Silent_p.L51L|SEC23A_ENST00000557280.1_Silent_p.L51L|SEC23A_ENST00000553970.1_Silent_p.L51L|SEC23A_ENST00000548032.2_Silent_p.L51L	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	51					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GAATAGGTGGTAAGTCAGGTC	0.413																																						uc001wup.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(151-153)TTA>TTG		SEC23-related protein A							122.0	109.0	114.0					14																	39565170		2203	4300	6503	SO:0001819	synonymous_variant	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39565170T>C	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.153A>G	14.37:g.39565170T>C						SEC23A_uc010tqa.1_Intron|SEC23A_uc010tqb.1_Silent_p.L51L	p.L51L	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	2	376	-	Hepatocellular(127;0.213)		51					B2R5P4|B3KXI2|Q8NE16	Silent	SNP	ENST00000307712.6	37	c.153A>G	CCDS9668.1																																																																																				0.413	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			14	50	0	0	0	0	14	50				
FCF1	51077	broad.mit.edu	37	14	75199488	75199488	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:75199488T>A	ENST00000341162.4	+	6	474	c.420T>A	c.(418-420)taT>taA	p.Y140*	FCF1_ENST00000534938.2_Nonsense_Mutation_p.Y128*|FCF1_ENST00000553615.1_Nonsense_Mutation_p.Y125*	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	140	PINc.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		AAGGAACCTATGCAGATGACT	0.343																																						uc001xqh.2		NA																	0				ovary(1)	1						c.(418-420)TAT>TAA		FCF1 small subunit							109.0	103.0	105.0					14																	75199488		2203	4300	6503	SO:0001587	stop_gained	51077				rRNA processing	nucleolus		g.chr14:75199488T>A	AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 111"", ""FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"""	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.420T>A	14.37:g.75199488T>A	ENSP00000344393:p.Tyr140*					FCF1_uc001xqf.1_Nonsense_Mutation_p.Y125*|FCF1_uc001xqg.2_RNA|FCF1_uc001xqi.2_RNA	p.Y140*	NM_015962	NP_057046	Q9Y324	FCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0037)	6	471	+			140			PINc.		Q86TW8|Q8TBL8	Nonsense_Mutation	SNP	ENST00000341162.4	37	c.420T>A	CCDS9832.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.393334	0.42410	.	.	ENSG00000119616	ENST00000554590;ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	4.77	0.964	0.19655	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.275	0.31866	0.0:0.2615:0.0:0.7385	.	.	.	.	X	51;140;128;125	.	ENSP00000344393:Y140X	Y	+	3	2	FCF1	74269241	0.985000	0.35326	1.000000	0.80357	0.942000	0.58702	0.093000	0.15086	0.061000	0.16311	-0.274000	0.10170	TAT		0.343	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413622.1	NM_015962		6	76	0	0	0	0	6	76				
ADSSL1	122622	broad.mit.edu	37	14	105207565	105207565	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:105207565C>T	ENST00000330877.2	+	8	863	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	ADSSL1_ENST00000332972.5_Missense_Mutation_p.L303F	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		CGCCGCCCTCCTCGACATTGA	0.617																																						uc001ypd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(778-780)CTC>TTC		adenylosuccinate synthase like 1 isoform 2	L-Aspartic Acid(DB00128)						47.0	48.0	48.0					14																	105207565		2203	4299	6502	SO:0001583	missense	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105207565C>T	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.778C>T	14.37:g.105207565C>T	ENSP00000331260:p.Leu260Phe					INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.L303F|ADSSL1_uc001ypf.2_RNA	p.L260F	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	8	852	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	260						Missense_Mutation	SNP	ENST00000330877.2	37	c.778C>T	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298809	0.81025	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.62105	0.05;0.05	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.87908	0.6296	H	0.98577	4.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.92856	0.6301	10	0.87932	D	0	-16.5845	18.57	0.91132	0.0:1.0:0.0:0.0	.	303;260	Q8N142-2;Q8N142	.;PURA1_HUMAN	F	260;303	ENSP00000331260:L260F;ENSP00000333019:L303F	ENSP00000331260:L260F	L	+	1	0	ADSSL1	104278610	1.000000	0.71417	0.102000	0.21198	0.659000	0.38960	4.809000	0.62591	2.394000	0.81467	0.655000	0.94253	CTC		0.617	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			20	33	0	0	0	0	20	33				
AHNAK2	113146	broad.mit.edu	37	14	105406529	105406529	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:105406529G>A	ENST00000333244.5	-	7	15378	c.15259C>T	c.(15259-15261)Ctc>Ttc	p.L5087F	AHNAK2_ENST00000557457.1_Missense_Mutation_p.L85F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5087						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCGGTGGAGGTTCACACCC	0.572																																						uc010axc.1		NA																	0				ovary(1)	1						c.(15259-15261)CTC>TTC		AHNAK nucleoprotein 2							93.0	104.0	100.0					14																	105406529		2071	4214	6285	SO:0001583	missense	113146					nucleus		g.chr14:105406529G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15259C>T	14.37:g.105406529G>A	ENSP00000353114:p.Leu5087Phe					AHNAK2_uc001ypx.2_Missense_Mutation_p.L4987F	p.L5087F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	15379	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5087					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.15259C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826779	0.32329	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.01804	4.63;5.37	2.17	1.27	0.21489	.	.	.	.	.	T	0.01765	0.0056	L	0.45051	1.395	0.09310	N	1	B	0.28713	0.22	B	0.26517	0.07	T	0.46803	-0.9165	9	0.30854	T	0.27	.	4.3224	0.11023	0.3384:0.0:0.6616:0.0	.	5087	Q8IVF2	AHNK2_HUMAN	F	85;5087	ENSP00000450998:L85F;ENSP00000353114:L5087F	ENSP00000353114:L5087F	L	-	1	0	AHNAK2	104477574	0.001000	0.12720	0.005000	0.12908	0.002000	0.02628	0.194000	0.17135	0.478000	0.27488	-0.258000	0.10820	CTC		0.572	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		42	95	0	0	0	0	42	95				
AHNAK2	113146	broad.mit.edu	37	14	105410194	105410194	+	Missense_Mutation	SNP	C	C	A	rs377500233		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:105410194C>A	ENST00000333244.5	-	7	11713	c.11594G>T	c.(11593-11595)cGc>cTc	p.R3865L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3865						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.R3865H(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCACCTGGCGAGCTTGGAC	0.607																																						uc010axc.1		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(11593-11595)CGC>CTC		AHNAK nucleoprotein 2		A	LEU/ARG	0,3960		0,0,1980	130.0	138.0	135.0		11594	-6.6	0.0	14		135	1,8307		0,1,4153	no	missense	AHNAK2	NM_138420.2	102	0,1,6133	AA,AC,CC		0.012,0.0,0.0082	benign	3865/5796	105410194	1,12267	1980	4154	6134	SO:0001583	missense	113146					nucleus		g.chr14:105410194C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11594G>T	14.37:g.105410194C>A	ENSP00000353114:p.Arg3865Leu					AHNAK2_uc001ypx.2_Missense_Mutation_p.R3765L	p.R3865L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11714	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3865					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11594G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	0.929	-0.713421	0.03206	0.0	1.2E-4	ENSG00000185567	ENST00000333244	T	0.01059	5.39	3.28	-6.55	0.01854	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.42531	-0.9446	9	0.29301	T	0.29	.	3.4295	0.07422	0.3015:0.3628:0.2522:0.0835	.	3865	Q8IVF2	AHNK2_HUMAN	L	3865	ENSP00000353114:R3865L	ENSP00000353114:R3865L	R	-	2	0	AHNAK2	104481239	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.027000	0.00310	-4.068000	0.00076	-3.771000	0.00021	CGC		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		82	189	1	0	9.35e-44	1.98e-43	82	189				
MKRN3	7681	broad.mit.edu	37	15	23811447	23811447	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr15:23811447C>T	ENST00000314520.3	+	1	994	c.518C>T	c.(517-519)tCg>tTg	p.S173L	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	173					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTGATTGGCTCGGCTGCTGAA	0.612																																						uc001ywh.3		NA																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(517-519)TCG>TTG		makorin ring finger protein 3							25.0	28.0	27.0					15																	23811447		2199	4286	6485	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811447C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.518C>T	15.37:g.23811447C>T	ENSP00000313881:p.Ser173Leu					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S173L	p.S173L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	994	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	173						Missense_Mutation	SNP	ENST00000314520.3	37	c.518C>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010719	0.19277	.	.	ENSG00000179455	ENST00000314520	T	0.33865	1.39	4.07	-1.6	0.08426	.	1.647920	0.03475	N	0.214234	T	0.18299	0.0439	N	0.12182	0.205	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.12293	-1.0553	10	0.39692	T	0.17	.	1.2504	0.01981	0.163:0.3128:0.3188:0.2054	.	173	Q13064	MKRN3_HUMAN	L	173	ENSP00000313881:S173L	ENSP00000313881:S173L	S	+	2	0	MKRN3	21362540	0.000000	0.05858	0.026000	0.17262	0.620000	0.37586	-0.087000	0.11215	-0.271000	0.09272	-0.119000	0.15052	TCG		0.612	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		26	29	0	0	0	0	26	29				
GPR176	11245	broad.mit.edu	37	15	40093386	40093386	+	Missense_Mutation	SNP	G	G	A	rs373118560		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr15:40093386G>A	ENST00000561100.1	-	3	2360	c.1495C>T	c.(1495-1497)Cgg>Tgg	p.R499W	GPR176_ENST00000543580.1_Missense_Mutation_p.R454W|GPR176_ENST00000299092.3_Missense_Mutation_p.R498W|GPR176_ENST00000560729.1_5'Flank|RP11-37C7.1_ENST00000558616.1_RNA	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	499					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTCATCTTCCGCTCCACCCTG	0.512																																						uc001zkj.1		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1495-1497)CGG>TGG		G protein-coupled receptor 176		G	TRP/ARG	0,4406		0,0,2203	111.0	102.0	105.0		1495	3.2	1.0	15		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPR176	NM_007223.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	499/516	40093386	1,13005	2203	4300	6503	SO:0001583	missense	11245				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr15:40093386G>A	BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1495C>T	15.37:g.40093386G>A	ENSP00000453076:p.Arg499Trp					GPR176_uc010uck.1_Missense_Mutation_p.R439W	p.R499W	NM_007223	NP_009154	Q14439	GP176_HUMAN		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)	3	2361	-		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	499			Cytoplasmic (Potential).		Q6NXF6	Missense_Mutation	SNP	ENST00000561100.1	37	c.1495C>T	CCDS10051.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188762	0.57909	0.0	1.16E-4	ENSG00000166073	ENST00000299092;ENST00000543580	D	0.85556	-2.0	6.17	3.22	0.36961	.	0.112267	0.64402	N	0.000014	T	0.76357	0.3976	L	0.48642	1.525	0.58432	D	0.999999	B	0.33135	0.399	B	0.23275	0.045	T	0.74858	-0.3521	10	0.87932	D	0	-10.342	8.0277	0.30446	0.1344:0.0:0.6508:0.2148	.	499	Q14439	GP176_HUMAN	W	499;454	ENSP00000439361:R454W	ENSP00000299092:R499W	R	-	1	2	GPR176	37880678	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.812000	0.47994	0.939000	0.37446	0.655000	0.94253	CGG		0.512	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252117.2	NM_007223		42	81	0	0	0	0	42	81				
UACA	55075	broad.mit.edu	37	15	70960561	70960561	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr15:70960561A>G	ENST00000322954.6	-	16	2647	c.2462T>C	c.(2461-2463)gTt>gCt	p.V821A	UACA_ENST00000379983.2_Missense_Mutation_p.V808A|UACA_ENST00000560441.1_Missense_Mutation_p.V806A|UACA_ENST00000539319.1_Missense_Mutation_p.V712A	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	821					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTTAAGTTCAACAATATTGGA	0.368																																						uc002asr.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2461-2463)GTT>GCT		uveal autoantigen with coiled-coil domains and							114.0	113.0	113.0					15																	70960561		2199	4296	6495	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960561A>G	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2462T>C	15.37:g.70960561A>G	ENSP00000314556:p.Val821Ala					UACA_uc010uke.1_Missense_Mutation_p.V712A|UACA_uc002asq.2_Missense_Mutation_p.V808A|UACA_uc010bin.1_Missense_Mutation_p.V796A	p.V821A	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			16	2566	-			821			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2462T>C	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.746080	0.00669	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.76968	-1.06;-1.06;-1.06	5.65	-11.3	0.00108	.	1.631100	0.03053	N	0.154910	T	0.35941	0.0949	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	T	0.35201	-0.9798	10	0.07990	T	0.79	2.4481	6.5773	0.22573	0.186:0.1539:0.5135:0.1467	.	712;821;821;808	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	A	821;808;712	ENSP00000314556:V821A;ENSP00000369319:V808A;ENSP00000438667:V712A	ENSP00000314556:V821A	V	-	2	0	UACA	68747615	0.000000	0.05858	0.000000	0.03702	0.191000	0.23601	-0.727000	0.04931	-2.239000	0.00711	-0.250000	0.11733	GTT		0.368	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			3	83	0	0	0	0	3	83				
MSLN	10232	broad.mit.edu	37	16	815234	815234	+	Missense_Mutation	SNP	C	C	T	rs545304974		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:815234C>T	ENST00000382862.3	+	8	730	c.635C>T	c.(634-636)cCg>cTg	p.P212L	MSLN_ENST00000566549.1_Missense_Mutation_p.P212L|MSLN_ENST00000545450.2_Missense_Mutation_p.P212L|MSLN_ENST00000563941.1_Missense_Mutation_p.P212L	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	212					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTGAGCTGCCCGGGACCCCTG	0.697													T|||	1	0.000199681	0.0	0.0014	5008	,	,		11879	0.0		0.0	False		,,,				2504	0.0					uc002cjw.1		NA																	0		p.P212P(1)		pancreas(1)	1						c.(634-636)CCG>CTG		mesothelin isoform 2 preproprotein							8.0	8.0	8.0					16																	815234		2130	4235	6365	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:815234C>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.635C>T	16.37:g.815234C>T	ENSP00000372313:p.Pro212Leu					MSLN_uc002cjt.1_Missense_Mutation_p.P212L|MSLN_uc002cju.1_Missense_Mutation_p.P212L|MSLN_uc010brd.1_Missense_Mutation_p.P211L|MSLN_uc002cjv.1_Missense_Mutation_p.P212L|MSLN_uc002cjx.1_Missense_Mutation_p.P212L|MSLN_uc002cjy.1_5'Flank	p.P212L	NM_013404	NP_037536	Q13421	MSLN_HUMAN			8	686	+		Hepatocellular(780;0.00335)	212					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.635C>T	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	T	5.849	0.340818	0.11069	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.11712	2.75;2.75	2.8	-5.61	0.02489	.	10.548800	0.00508	N	0.000169	T	0.02888	0.0086	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.34153	-0.9840	10	0.25106	T	0.35	.	2.5592	0.04768	0.1304:0.4319:0.2843:0.1534	.	211;212;212;212	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	L	212	ENSP00000442965:P212L;ENSP00000372313:P212L	ENSP00000372313:P212L	P	+	2	0	MSLN	755235	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.449000	0.02392	-1.647000	0.01511	-2.413000	0.00220	CCG		0.697	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			4	10	0	0	0	0	4	10				
CASKIN1	57524	broad.mit.edu	37	16	2239445	2239445	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:2239445G>T	ENST00000343516.6	-	4	457	c.365C>A	c.(364-366)gCg>gAg	p.A122E		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	122					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ATGCTGGGCCGCCAGGTGCAG	0.716																																						uc010bsg.1		NA																	0				skin(2)	2						c.(364-366)GCG>GAG		CASK interacting protein 1							20.0	24.0	23.0					16																	2239445		1964	4147	6111	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2239445G>T	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.365C>A	16.37:g.2239445G>T	ENSP00000345436:p.Ala122Glu						p.A122E	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			4	397	-			122			ANK 3.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.365C>A	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467391	0.84533	.	.	ENSG00000167971	ENST00000343516	D	0.89746	-2.56	3.88	2.82	0.32997	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.96213	0.8765	H	0.98487	4.245	0.58432	D	0.999999	D	0.71674	0.998	D	0.72982	0.979	D	0.96605	0.9448	9	0.87932	D	0	-18.663	11.7929	0.52080	0.0:0.1786:0.8214:0.0	.	122	Q8WXD9	CSKI1_HUMAN	E	122	ENSP00000345436:A122E	ENSP00000345436:A122E	A	-	2	0	CASKIN1	2179446	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	7.733000	0.84916	1.900000	0.55004	0.561000	0.74099	GCG		0.716	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		5	26	1	0	0.000602214	0.00119648	5	26				
DCUN1D3	123879	broad.mit.edu	37	16	20871625	20871625	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:20871625G>A	ENST00000324344.4	-	3	783	c.498C>T	c.(496-498)ttC>ttT	p.F166F	DCUN1D3_ENST00000563934.1_Silent_p.F166F|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	166	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AGAGGCTAGGGAACCGTGCAC	0.443																																						uc002dhz.2		NA																	0				ovary(2)	2						c.(496-498)TTC>TTT		DCN1, defective in cullin neddylation 1, domain							83.0	84.0	84.0					16																	20871625		2201	4300	6501	SO:0001819	synonymous_variant	123879				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		g.chr16:20871625G>A	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.498C>T	16.37:g.20871625G>A						ERI2_uc002dht.3_Intron	p.F166F	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN		GBM - Glioblastoma multiforme(48;0.249)	3	639	-			166			DCUN1.		B3KVY4	Silent	SNP	ENST00000324344.4	37	c.498C>T	CCDS10592.1																																																																																				0.443	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		31	67	0	0	0	0	31	67				
EEF2K	29904	broad.mit.edu	37	16	22260121	22260121	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:22260121C>G	ENST00000263026.5	+	4	867	c.393C>G	c.(391-393)atC>atG	p.I131M		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	131	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.I131M(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AAGTTCTGATCAAGATGGCAT	0.567																																					NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(391-393)ATC>ATG		elongation factor-2 kinase							137.0	107.0	117.0					16																	22260121		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22260121C>G	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.393C>G	16.37:g.22260121C>G	ENSP00000263026:p.Ile131Met					EEF2K_uc002dkh.2_RNA	p.I131M	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	4	878	+			131			Alpha-type protein kinase.		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.393C>G	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	C	9.995	1.231959	0.22626	.	.	ENSG00000103319	ENST00000263026	T	0.08546	3.08	4.97	4.97	0.65823	MHCK/EF2 kinase (2);Protein kinase-like domain (1);	0.102382	0.64402	D	0.000005	T	0.12050	0.0293	M	0.80183	2.485	0.53005	D	0.999963	P	0.35124	0.485	B	0.30646	0.118	T	0.01397	-1.1365	10	0.87932	D	0	-9.7493	8.6531	0.34046	0.1517:0.7705:0.0:0.0778	.	131	O00418	EF2K_HUMAN	M	131	ENSP00000263026:I131M	ENSP00000263026:I131M	I	+	3	3	EEF2K	22167622	0.996000	0.38824	1.000000	0.80357	0.288000	0.27193	0.427000	0.21379	2.463000	0.83235	0.462000	0.41574	ATC		0.567	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		8	35	0	0	0	0	8	35				
CNGB1	1258	broad.mit.edu	37	16	58001090	58001090	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:58001090T>C	ENST00000251102.8	-	2	161	c.101A>G	c.(100-102)gAg>gGg	p.E34G	CNGB1_ENST00000564448.1_Missense_Mutation_p.E34G|CNGB1_ENST00000311183.4_Missense_Mutation_p.E34G	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	34	Glu-rich.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CACCTCCGCCTCCATCTCTGG	0.642																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NA																	0				breast(3)|pancreas(1)	4						c.(100-102)GAG>GGG		cyclic nucleotide gated channel beta 1 isoform							99.0	104.0	102.0					16																	58001090		2002	4162	6164	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:58001090T>C	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.101A>G	16.37:g.58001090T>C	ENSP00000251102:p.Glu34Gly					CNGB1_uc010cdh.2_Missense_Mutation_p.E34G|CNGB1_uc002emu.2_Missense_Mutation_p.E34G	p.E34G	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			2	166	-			34			Glu-rich.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.101A>G	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.985089	0.53934	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.97138	-4.26;0.71	5.23	1.6	0.23607	.	0.000000	0.39615	N	0.001317	D	0.92763	0.7699	L	0.43923	1.385	0.09310	N	1	P;B	0.42908	0.793;0.267	B;B	0.40940	0.344;0.086	D	0.87250	0.2272	10	0.59425	D	0.04	.	1.7246	0.02919	0.1706:0.0921:0.1779:0.5594	.	34;34	Q14028-3;Q14028	.;CNGB1_HUMAN	G	34	ENSP00000251102:E34G;ENSP00000311670:E34G	ENSP00000251102:E34G	E	-	2	0	CNGB1	56558591	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	0.061000	0.14366	0.344000	0.23847	0.368000	0.22195	GAG		0.642	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		3	81	0	0	0	0	3	81				
CMTM1	113540	broad.mit.edu	37	16	66603924	66603924	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr16:66603924T>C	ENST00000457188.2	+	2	288	c.167T>C	c.(166-168)aTt>aCt	p.I56T	CMTM1_ENST00000328020.6_Missense_Mutation_p.I173T|CMTM1_ENST00000379500.2_Missense_Mutation_p.I173T|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533666.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000528324.1_Missense_Mutation_p.I56T	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	56	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		GAAATCTGCATTGTCGTTTTT	0.343																																						uc002epi.3		NA																	0					0						c.(166-168)ATT>ACT		chemokine-like factor superfamily 1 isoform 1							176.0	172.0	173.0					16																	66603924		2201	4300	6501	SO:0001583	missense	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66603924T>C	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.167T>C	16.37:g.66603924T>C	ENSP00000405729:p.Ile56Thr					CMTM1_uc002epb.3_RNA|CMTM1_uc002epc.3_RNA|CMTM1_uc002epd.3_Intron|CMTM1_uc002epe.3_Intron|CMTM1_uc002epf.3_Intron|CMTM1_uc002epg.3_Intron|CMTM1_uc002eph.3_Missense_Mutation_p.I56T|CMTM1_uc002epl.3_Intron|CMTM1_uc002epj.3_Intron|CMTM1_uc002epk.3_Intron|CMTM1_uc002epa.3_Intron|CMTM1_uc002epn.3_Missense_Mutation_p.I173T|CMTM1_uc002epo.3_RNA|CMTM1_uc002epp.3_RNA|CMTM1_uc002epq.3_RNA|CMTM1_uc010cds.2_RNA|CMTM1_uc002epr.3_Missense_Mutation_p.I173T|CMTM1_uc002epm.3_RNA|CMTM1_uc002eps.2_RNA	p.I56T	NM_181269	NP_851786	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	2	290	+		Ovarian(137;0.0563)	56			MARVEL.|Helical; (Potential).		Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Missense_Mutation	SNP	ENST00000457188.2	37	c.167T>C	CCDS45503.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.683513	0.47991	.	.	ENSG00000089505	ENST00000528324;ENST00000457188;ENST00000379500;ENST00000328020	T;T;T;T	0.63096	-0.02;1.61;1.59;1.55	5.93	5.93	0.95920	Marvel (1);	0.216848	0.36409	N	0.002619	T	0.78394	0.4276	.	.	.	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.997	D;D;D;D	0.75484	0.974;0.982;0.986;0.956	T	0.80462	-0.1372	9	0.59425	D	0.04	-18.9751	12.7674	0.57399	0.0:0.0:0.0:1.0	.	173;173;56;56	Q6PEV5;E9PAX0;Q8IZ96;Q8IZ96-4	.;.;CKLF1_HUMAN;.	T	56;56;173;173	ENSP00000432398:I56T;ENSP00000405729:I56T;ENSP00000368814:I173T;ENSP00000330061:I173T	ENSP00000330061:I173T	I	+	2	0	CMTM1	65161425	0.962000	0.33011	0.220000	0.23810	0.004000	0.04260	3.739000	0.55075	2.270000	0.75569	0.460000	0.39030	ATT		0.343	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		49	103	0	0	0	0	49	103				
TP53	7157	broad.mit.edu	37	17	7578262	7578262	+	Missense_Mutation	SNP	C	C	G	rs483352697		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:7578262C>G	ENST00000269305.4	-	6	776	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000455263.2_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000420246.2_Missense_Mutation_p.R196P|TP53_ENST00000445888.2_Missense_Mutation_p.R196P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCCTTCCACTCGGATAAGATG	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		51	Substitution - Missense(26)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Deletion - Frameshift(1)|Complex - frameshift(1)	p.R196*(123)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R196L(1)	lung(11)|breast(9)|biliary_tract(5)|skin(5)|pancreas(5)|bone(4)|central_nervous_system(3)|stomach(2)|large_intestine(2)|urinary_tract(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM984587	TP53	M		c.(586-588)CGA>CCA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							104.0	93.0	96.0					17																	7578262		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578262C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.587G>C	17.37:g.7578262C>G	ENSP00000269305:p.Arg196Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R196P|TP53_uc002gih.2_Missense_Mutation_p.R196P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R64P|TP53_uc010cng.1_Missense_Mutation_p.R64P|TP53_uc002gii.1_Missense_Mutation_p.R64P|TP53_uc010cnh.1_Missense_Mutation_p.R196P|TP53_uc010cni.1_Missense_Mutation_p.R196P|TP53_uc002gij.2_Missense_Mutation_p.R196P|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R103P|TP53_uc002gio.2_Missense_Mutation_p.R64P|TP53_uc010vug.1_Missense_Mutation_p.R157P	p.R196P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	781	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.587G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030593	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.41	4.43	0.53597	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.91872	3.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.995;1.0;0.999;0.999;1.0	D	0.96402	0.9297	10	0.87932	D	0	-19.9531	13.7077	0.62651	0.1553:0.8447:0.0:0.0	.	157;196;196;103;196;196;196	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	196;196;196;196;196;196;185;103;64;103;64	ENSP00000410739:R196P;ENSP00000352610:R196P;ENSP00000269305:R196P;ENSP00000398846:R196P;ENSP00000391127:R196P;ENSP00000391478:R196P;ENSP00000425104:R64P;ENSP00000423862:R103P	ENSP00000269305:R196P	R	-	2	0	TP53	7518987	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	7.775000	0.85489	1.410000	0.46936	0.655000	0.94253	CGA		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	17	0	0	0	0	22	17				
CCDC144A	9720	broad.mit.edu	37	17	16612722	16612722	+	Missense_Mutation	SNP	A	A	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:16612722A>T	ENST00000360524.8	+	5	1427	c.1351A>T	c.(1351-1353)Aca>Tca	p.T451S	CCDC144A_ENST00000399273.1_Missense_Mutation_p.T451S|CCDC144A_ENST00000443444.2_Missense_Mutation_p.T451S|RN7SL620P_ENST00000580704.1_RNA|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.T451S|CCDC144A_ENST00000340621.5_Missense_Mutation_p.T450S	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	451																	TTTGCAAATGACAAAAAATAT	0.343																																						uc002gqk.1		NA																	0					0						c.(1351-1353)ACA>TCA		coiled-coil domain containing 144A							46.0	41.0	42.0					17																	16612722		1794	4045	5839	SO:0001583	missense	9720							g.chr17:16612722A>T	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1351A>T	17.37:g.16612722A>T	ENSP00000353717:p.Thr451Ser					CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank	p.T451S	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			5	1427	+			451					O60311|Q6ZU57	Missense_Mutation	SNP	ENST00000360524.8	37	c.1351A>T	CCDS45621.1	.	.	.	.	.	.	.	.	.	.	.	10.79	1.450464	0.26074	.	.	ENSG00000170160	ENST00000340621;ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000360495	T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04	1.26	-1.47	0.08772	.	.	.	.	.	T	0.08802	0.0218	N	0.22421	0.69	0.35251	D	0.778733	P	0.38110	0.618	B	0.28638	0.092	T	0.38650	-0.9651	8	.	.	.	.	5.1464	0.14987	0.5878:0.0:0.4122:0.0	.	451	A2RUR9	C144A_HUMAN	S	450;451;451;451;451;451	ENSP00000344740:T450S;ENSP00000382215:T451S;ENSP00000439262:T451S;ENSP00000440655:T451S;ENSP00000353717:T451S;ENSP00000353685:T451S	.	T	+	1	0	CCDC144A	16553447	0.000000	0.05858	0.459000	0.27081	0.327000	0.28475	-0.217000	0.09253	-0.235000	0.09767	0.147000	0.16070	ACA		0.343	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			24	26	0	0	0	0	24	26				
PIGW	284098	broad.mit.edu	37	17	34893502	34893502	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:34893502G>A	ENST00000592983.1	+	2	1132	c.552G>A	c.(550-552)gaG>gaA	p.E184E	MYO19_ENST00000544606.1_5'Flank|MYO19_ENST00000586007.1_5'Flank|MYO19_ENST00000590081.1_Intron|MYO19_ENST00000268852.9_5'Flank|PIGW_ENST00000328396.2_Silent_p.E184E|MYO19_ENST00000431794.3_5'Flank			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	184					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTGTCTAGAGGTCAGGAGGA	0.418																																						uc002hmy.1		NA																	0					0						c.(550-552)GAG>GAA		phosphatidylinositol glycan, class W							178.0	192.0	187.0					17																	34893502		2203	4300	6503	SO:0001819	synonymous_variant	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34893502G>A	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.552G>A	17.37:g.34893502G>A						MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Silent_p.E184E	p.E184E	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	595	+		Breast(25;0.00957)|Ovarian(249;0.17)	184					Q8N9G3	Silent	SNP	ENST00000592983.1	37	c.552G>A	CCDS11313.1																																																																																				0.418	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		36	150	0	0	0	0	36	150				
TBX21	30009	broad.mit.edu	37	17	45822604	45822604	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:45822604G>A	ENST00000177694.1	+	6	1691	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	494					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E494K(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGGACTGGGCGAAGGAGACTC	0.617																																						uc002ilv.1		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1480-1482)GAA>AAA		T-box 21							44.0	45.0	45.0					17																	45822604		2203	4300	6503	SO:0001583	missense	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822604G>A	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1480G>A	17.37:g.45822604G>A	ENSP00000177694:p.Glu494Lys						p.E494K	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			6	1691	+			494						Missense_Mutation	SNP	ENST00000177694.1	37	c.1480G>A	CCDS11514.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447346	0.63178	.	.	ENSG00000073861	ENST00000177694	D	0.86230	-2.09	5.38	5.38	0.77491	.	0.206123	0.31601	N	0.007363	D	0.88336	0.6409	M	0.73598	2.24	0.36175	D	0.849049	D	0.61697	0.99	P	0.45998	0.5	D	0.92221	0.5784	10	0.62326	D	0.03	.	14.6327	0.68668	0.0:0.0:1.0:0.0	.	494	Q9UL17	TBX21_HUMAN	K	494	ENSP00000177694:E494K	ENSP00000177694:E494K	E	+	1	0	TBX21	43177603	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	3.340000	0.52143	2.499000	0.84300	0.655000	0.94253	GAA		0.617	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		9	42	0	0	0	0	9	42				
TRIM37	4591	broad.mit.edu	37	17	57119177	57119177	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:57119177C>A	ENST00000262294.7	-	17	2009	c.1750G>T	c.(1750-1752)Gca>Tca	p.A584S	TRIM37_ENST00000393066.3_Missense_Mutation_p.A584S|TRIM37_ENST00000393065.2_Missense_Mutation_p.A550S|TRIM37_ENST00000376149.3_Missense_Mutation_p.A462S	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	584					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCATTACCTGCGGGTCCTGCA	0.423									Mulibrey Nanism																													uc002iwy.3		NA																	0				lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(1750-1752)GCA>TCA		tripartite motif-containing 37 protein							129.0	115.0	120.0					17																	57119177		2203	4300	6503	SO:0001583	missense	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57119177C>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.1750G>T	17.37:g.57119177C>A	ENSP00000262294:p.Ala584Ser					TRIM37_uc002iwz.3_Missense_Mutation_p.A584S|TRIM37_uc002ixa.3_Missense_Mutation_p.A462S|TRIM37_uc010woc.1_Missense_Mutation_p.A550S	p.A584S	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			17	2194	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		584					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000262294.7	37	c.1750G>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	4.588	0.109189	0.08780	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.61392	1.86;1.86;0.11;1.47	5.57	-2.28	0.06826	.	0.596016	0.18818	N	0.130326	T	0.28499	0.0705	N	0.11560	0.145	0.23010	N	0.998431	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.10450	0.005;0.003;0.002	T	0.25328	-1.0135	10	0.11182	T	0.66	.	8.1348	0.31048	0.2237:0.4031:0.3732:0.0	.	550;462;584	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	S	584;584;462;550	ENSP00000376785:A584S;ENSP00000262294:A584S;ENSP00000365319:A462S;ENSP00000376784:A550S	ENSP00000262294:A584S	A	-	1	0	TRIM37	54473959	0.893000	0.30496	0.926000	0.36857	0.510000	0.34073	0.796000	0.26986	-0.105000	0.12132	-0.147000	0.13772	GCA		0.423	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294		7	19	1	0	0.00307968	0.00603906	7	19				
ENTHD2	146705	broad.mit.edu	37	17	79204412	79204412	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr17:79204412G>A	ENST00000300714.3	-	11	1018	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA|ENTHD2_ENST00000374769.2_Missense_Mutation_p.R237C	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	321						cytoplasmic vesicle (GO:0031410)											GGCCGGGTGCGGAGGAGGATG	0.697											OREG0024811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jzu.1		NA																	0					0						c.(961-963)CGC>TGC		hypothetical protein LOC146705							24.0	25.0	25.0					17																	79204412		2202	4298	6500	SO:0001583	missense	146705					integral to membrane		g.chr17:79204412G>A	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.961C>T	17.37:g.79204412G>A	ENSP00000300714:p.Arg321Cys		OREG0024811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1189	C17orf56_uc002jzr.1_5'UTR|C17orf56_uc002jzs.1_Missense_Mutation_p.R237C|C17orf56_uc002jzt.1_Missense_Mutation_p.R237C|C17orf56_uc002jzv.1_Missense_Mutation_p.R169C|uc002jzw.1_RNA	p.R321C	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		11	983	-	all_neural(118;0.0804)|Melanoma(429;0.242)		321					Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	ENST00000300714.3	37	c.961C>T	CCDS11779.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255303	0.39896	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T;T	0.64803	-0.12;-0.12	5.32	3.2	0.36748	.	0.469078	0.22527	N	0.058888	T	0.43523	0.1251	N	0.08118	0	0.09310	N	1	D;D	0.61697	0.965;0.99	B;P	0.47744	0.266;0.556	T	0.31916	-0.9926	10	0.59425	D	0.04	-20.4969	7.5615	0.27853	0.0:0.2998:0.5388:0.1614	.	321;237	Q96N21;Q96N21-2	CQ056_HUMAN;.	C	321;237	ENSP00000300714:R321C;ENSP00000363901:R237C	ENSP00000300714:R321C	R	-	1	0	C17orf56	76819007	0.120000	0.22244	0.019000	0.16419	0.131000	0.20780	1.376000	0.34306	2.479000	0.83701	0.555000	0.69702	CGC		0.697	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		4	25	0	0	0	0	4	25				
HMHA1	23526	broad.mit.edu	37	19	1082981	1082981	+	Missense_Mutation	SNP	T	T	A	rs141057547		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:1082981T>A	ENST00000313093.2	+	20	2891	c.2660T>A	c.(2659-2661)cTg>cAg	p.L887Q	HMHA1_ENST00000536472.1_Missense_Mutation_p.L755Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.L891Q|HMHA1_ENST00000590577.1_Missense_Mutation_p.L522Q|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000543365.1_Missense_Mutation_p.L770Q|HMHA1_ENST00000590214.1_Missense_Mutation_p.L914Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.L903Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	887	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGTGGCCCTGGCAGGTCGG	0.716																																						uc002lqz.1		NA																	0				lung(1)	1						c.(2659-2661)CTG>CAG		minor histocompatibility antigen HA-1							4.0	6.0	5.0					19																	1082981		2036	3956	5992	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1082981T>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2660T>A	19.37:g.1082981T>A	ENSP00000316772:p.Leu887Gln					HMHA1_uc010xgd.1_Missense_Mutation_p.L903Q|HMHA1_uc010xge.1_Missense_Mutation_p.L755Q|HMHA1_uc002lra.1_Missense_Mutation_p.L727Q|HMHA1_uc002lrb.1_Missense_Mutation_p.L770Q|HMHA1_uc002lrc.1_Missense_Mutation_p.L522Q|HMHA1_uc002lrd.1_5'UTR|HMHA1_uc010dsd.1_5'UTR	p.L887Q	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2891	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	887			Rho-GAP.		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.2660T>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494046	0.64186	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.24908	1.87;1.86;1.85;1.83	4.43	4.43	0.53597	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.056286	0.64402	D	0.000002	T	0.32971	0.0847	L	0.31207	0.915	0.31277	N	0.691063	P;P;P;P;P	0.50943	0.507;0.94;0.916;0.94;0.917	B;P;P;P;P	0.57620	0.369;0.668;0.824;0.668;0.777	T	0.32481	-0.9905	10	0.66056	D	0.02	-33.0463	12.8491	0.57848	0.0:0.0:0.0:1.0	.	755;903;522;770;887	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	Q	903;887;887;755;881;770	ENSP00000439601:L903Q;ENSP00000316772:L887Q;ENSP00000445109:L755Q;ENSP00000438979:L770Q	ENSP00000316772:L887Q	L	+	2	0	HMHA1	1033981	1.000000	0.71417	0.533000	0.28001	0.058000	0.15608	5.515000	0.67049	1.648000	0.50643	0.402000	0.26972	CTG		0.716	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			5	8	0	0	0	0	5	8				
ZNF700	90592	broad.mit.edu	37	19	12060456	12060456	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:12060456C>G	ENST00000254321.5	+	4	1760	c.1617C>G	c.(1615-1617)aaC>aaG	p.N539K	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.N521K|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	539					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATGAATGCAACCAATGTGGTA	0.398																																						uc002msu.2		NA																	0					0						c.(1615-1617)AAC>AAG		zinc finger protein 700							87.0	84.0	85.0					19																	12060456		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060456C>G	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1617C>G	19.37:g.12060456C>G	ENSP00000254321:p.Asn539Lys					ZNF700_uc010xme.1_Missense_Mutation_p.N557K|ZNF763_uc010xmf.1_Intron	p.N539K	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	1743	+			539			C2H2-type 12.		B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1617C>G	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.098409	0.00033	.	.	ENSG00000196757	ENST00000254321	T	0.06449	3.3	0.615	-1.23	0.09465	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01765	0.0056	N	0.03281	-0.365	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41805	-0.9488	9	0.02654	T	1	.	0.3566	0.00358	0.1884:0.1926:0.2629:0.3562	.	539	Q9H0M5	ZN700_HUMAN	K	539	ENSP00000254321:N539K	ENSP00000254321:N539K	N	+	3	2	ZNF700	11921456	0.000000	0.05858	0.002000	0.10522	0.122000	0.20287	-8.376000	0.00021	-1.222000	0.02587	-1.086000	0.02197	AAC		0.398	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		3	87	0	0	0	0	3	87				
ZNF136	7695	broad.mit.edu	37	19	12296615	12296615	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:12296615G>C	ENST00000343979.4	+	2	159	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	ZNF136_ENST00000398616.2_Intron	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	7	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GGTGGCTTTTGAGGATGTAGA	0.478																																						uc002mti.2		NA																	0				ovary(1)|pancreas(1)	2						c.(19-21)GAG>CAG		zinc finger protein 136							86.0	81.0	83.0					19																	12296615		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12296615G>C	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.19G>C	19.37:g.12296615G>C	ENSP00000344162:p.Glu7Gln					ZNF136_uc010xmh.1_Intron	p.E7Q	NM_003437	NP_003428	P52737	ZN136_HUMAN			2	119	+			7			KRAB.			Missense_Mutation	SNP	ENST00000343979.4	37	c.19G>C	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599513	0.66332	.	.	ENSG00000196646	ENST00000343979	T	0.02197	4.4	1.22	1.22	0.21188	Krueppel-associated box (4);	.	.	.	.	T	0.08537	0.0212	M	0.74258	2.255	0.49798	D	0.999821	D	0.69078	0.997	D	0.79108	0.992	T	0.12760	-1.0535	9	0.49607	T	0.09	.	5.842	0.18639	0.0:0.0:1.0:0.0	.	7	P52737	ZN136_HUMAN	Q	7	ENSP00000344162:E7Q	ENSP00000344162:E7Q	E	+	1	0	ZNF136	12157615	0.875000	0.30112	0.638000	0.29380	0.950000	0.60333	1.138000	0.31491	0.979000	0.38497	0.655000	0.94253	GAG		0.478	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		13	59	0	0	0	0	13	59				
MAST3	23031	broad.mit.edu	37	19	18232573	18232573	+	Silent	SNP	G	G	A	rs371510297		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:18232573G>A	ENST00000262811.6	+	3	150	c.150G>A	c.(148-150)tcG>tcA	p.S50S	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	50							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CGCCATTGTCGGTCCCAACGG	0.687																																						uc002nhz.3		NA																	0				large_intestine(2)|ovary(2)|stomach(1)	5						c.(148-150)TCG>TCA		microtubule associated serine/threonine kinase		G		0,4236		0,0,2118	50.0	61.0	57.0		150	-10.4	0.0	19		57	2,8466		0,2,4232	no	coding-synonymous	MAST3	NM_015016.1		0,2,6350	AA,AG,GG		0.0236,0.0,0.0157		50/1310	18232573	2,12702	2118	4234	6352	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18232573G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.150G>A	19.37:g.18232573G>A							p.S50S	NM_015016	NP_055831	O60307	MAST3_HUMAN			3	150	+			50					Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.150G>A	CCDS46014.1																																																																																				0.687	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		29	83	0	0	0	0	29	83				
PDCD2L	84306	broad.mit.edu	37	19	34895682	34895682	+	Silent	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:34895682G>T	ENST00000246535.3	+	2	284	c.237G>T	c.(235-237)gcG>gcT	p.A79A	RP11-618P17.4_ENST00000606020.1_Silent_p.A74A|PDCD2L_ENST00000587065.2_5'Flank	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	79					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ACGTGTTCGCGTGCGCCTGCC	0.716																																						uc002nvj.2		NA																	0				ovary(1)	1						c.(235-237)GCG>GCT		programmed cell death 2-like							13.0	13.0	13.0					19																	34895682		2198	4291	6489	SO:0001819	synonymous_variant	84306					cytoplasm		g.chr19:34895682G>T	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.237G>T	19.37:g.34895682G>T							p.A79A	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		2	270	+	Esophageal squamous(110;0.162)		79						Silent	SNP	ENST00000246535.3	37	c.237G>T	CCDS12438.1																																																																																				0.716	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346		5	11	1	0	0.00116845	0.00231537	5	11				
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627																																						uc002omp.3		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(13117-13119)GCA>GCC		Fc fragment of IgG binding protein precursor							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13127	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		10	34	0	0	0	0	10	34				
PSMC4	5704	broad.mit.edu	37	19	40478119	40478119	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:40478119G>C	ENST00000157812.2	+	2	301	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	PSMC4_ENST00000455878.2_Missense_Mutation_p.E35Q	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	35					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)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|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)|proteolysis (GO:0006508)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCCTGAGCCTGAGGACCTGGA	0.582																																					Colon(105;1478 1543 4034 6132 38638)	uc002omq.2		NA																	0				ovary(1)	1						c.(103-105)GAG>CAG		proteasome 26S ATPase subunit 4 isoform 1							76.0	76.0	76.0					19																	40478119		2203	4300	6503	SO:0001583	missense	5704				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	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr19:40478119G>C	U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.103G>C	19.37:g.40478119G>C	ENSP00000157812:p.Glu35Gln					PSMC4_uc002omr.2_Missense_Mutation_p.E35Q	p.E35Q	NM_006503	NP_006494	P43686	PRS6B_HUMAN			2	140	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		35					Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	ENST00000157812.2	37	c.103G>C	CCDS12547.1	.	.	.	.	.	.	.	.	.	.	g	14.79	2.641017	0.47153	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.94931	-3.41;-3.56	4.9	4.9	0.64082	.	0.237768	0.42053	D	0.000780	D	0.89269	0.6667	N	0.24115	0.695	0.58432	D	0.999995	B;B	0.11235	0.004;0.001	B;B	0.16289	0.015;0.002	D	0.84739	0.0750	10	0.20519	T	0.43	-3.6541	15.617	0.76775	0.0:0.0:1.0:0.0	.	35;35	P43686-2;P43686	.;PRS6B_HUMAN	Q	35	ENSP00000157812:E35Q;ENSP00000413869:E35Q	ENSP00000157812:E35Q	E	+	1	0	PSMC4	45169959	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.965000	0.87945	2.544000	0.85801	0.561000	0.74099	GAG		0.582	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462485.1	NM_006503		24	82	0	0	0	0	24	82				
ZNF574	64763	broad.mit.edu	37	19	42584376	42584376	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:42584376C>A	ENST00000600245.1	+	2	2273	c.1618C>A	c.(1618-1620)Cgc>Agc	p.R540S	ZNF574_ENST00000222339.7_Missense_Mutation_p.R630S|ZNF574_ENST00000359044.4_Missense_Mutation_p.R540S|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAACCTGGCCCGCCACCGGCT	0.642																																						uc002osm.3		NA																	0					0						c.(1618-1620)CGC>AGC		zinc finger protein 574							104.0	120.0	115.0					19																	42584376		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584376C>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1618C>A	19.37:g.42584376C>A	ENSP00000469029:p.Arg540Ser					ZNF574_uc002osk.3_Missense_Mutation_p.R630S	p.R540S	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	1787	+		Prostate(69;0.059)	540			C2H2-type 11.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1618C>A	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643536	0.29246	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.25749	1.78;1.78	5.18	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.36413	0.0966	L	0.53617	1.68	0.47547	D	0.999451	D;D	0.62365	0.982;0.991	P;P	0.60345	0.799;0.873	T	0.16041	-1.0416	10	0.08837	T	0.75	-23.613	12.6044	0.56514	0.0:0.9181:0.0:0.0819	.	540;629	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	S	630;540;147	ENSP00000222339:R630S;ENSP00000351939:R540S	ENSP00000222339:R630S	R	+	1	0	ZNF574	47276216	0.000000	0.05858	1.000000	0.80357	0.287000	0.27160	-0.102000	0.10956	1.191000	0.43056	-0.142000	0.14014	CGC		0.642	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		8	277	1	0	0.00448238	0.00876684	8	277				
FAM83E	54854	broad.mit.edu	37	19	49104463	49104463	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:49104463C>G	ENST00000263266.3	-	5	1529	c.1340G>C	c.(1339-1341)aGg>aCg	p.R447T		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	447										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		ACCGAACCGCCTTCGGGCTGG	0.701																																						uc002pjn.2		NA																	0				ovary(1)	1						c.(1339-1341)AGG>ACG		hypothetical protein LOC54854							18.0	19.0	19.0					19																	49104463		1846	4080	5926	SO:0001583	missense	54854							g.chr19:49104463C>G	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.1340G>C	19.37:g.49104463C>G	ENSP00000263266:p.Arg447Thr						p.R447T	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	5	1405	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	447					Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	c.1340G>C	CCDS42587.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244755	0.39697	.	.	ENSG00000105523	ENST00000263266	T	0.10573	2.86	3.86	3.86	0.44501	.	0.139271	0.25104	U	0.033105	T	0.17323	0.0416	N	0.19112	0.55	0.25338	N	0.988976	D	0.71674	0.998	D	0.73708	0.981	T	0.03017	-1.1082	10	0.56958	D	0.05	-29.5885	11.7134	0.51639	0.0:1.0:0.0:0.0	.	447	Q2M2I3	FA83E_HUMAN	T	447	ENSP00000263266:R447T	ENSP00000263266:R447T	R	-	2	0	FAM83E	53796275	0.002000	0.14202	0.191000	0.23289	0.009000	0.06853	0.430000	0.21428	1.877000	0.54381	0.549000	0.68633	AGG		0.701	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		11	30	0	0	0	0	11	30				
ZNF845	91664	broad.mit.edu	37	19	53855570	53855570	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:53855570G>A	ENST00000595091.1	+	5	1861	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	ZNF845_ENST00000458035.1_Missense_Mutation_p.E548K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCATACTGGAGAGAAACCTTA	0.413																																						uc010ydv.1		NA																	0					0						c.(1642-1644)GAG>AAG		zinc finger protein 845							57.0	52.0	53.0					19																	53855570		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855570G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1642G>A	19.37:g.53855570G>A	ENSP00000470005:p.Glu548Lys					ZNF845_uc010ydw.1_Missense_Mutation_p.E548K	p.E548K	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	1759	+			548						Missense_Mutation	SNP	ENST00000595091.1	37	c.1642G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106752	0.56291	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.24350	1.86	1.86	0.676	0.17958	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36441	0.0967	L	0.42686	1.345	0.23784	N	0.996858	D	0.65815	0.995	D	0.64042	0.921	T	0.17167	-1.0378	9	0.66056	D	0.02	.	8.8858	0.35402	0.0:0.2337:0.7663:0.0	.	548	Q96IR2	ZN845_HUMAN	K	548	ENSP00000388311:E548K	ENSP00000412086:E548K	E	+	1	0	ZNF845	58547382	0.990000	0.36364	0.001000	0.08648	0.091000	0.18340	2.493000	0.45320	0.094000	0.17404	0.405000	0.27470	GAG		0.413	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	75	0	0	0	0	6	75				
ZNF132	7691	broad.mit.edu	37	19	58944808	58944808	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr19:58944808G>C	ENST00000254166.3	-	3	2403	c.2003C>G	c.(2002-2004)tCt>tGt	p.S668C	CTD-2619J13.17_ENST00000594816.1_lincRNA	NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	668					regulation of transcription, DNA-templated (GO:0006355)|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)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		AACAAGTGTAGATCTTTCACT	0.468																																						uc002qst.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2002-2004)TCT>TGT		zinc finger protein 132							104.0	94.0	97.0					19																	58944808		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58944808G>C	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.2003C>G	19.37:g.58944808G>C	ENSP00000254166:p.Ser668Cys						p.S668C	NM_003433	NP_003424	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	2404	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	668			C2H2-type 17.		Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.2003C>G	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746000	0.30955	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.08282	3.11	3.05	1.87	0.25490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27731	0.0682	M	0.88310	2.945	0.09310	N	1	D	0.76494	0.999	P	0.58454	0.839	T	0.06180	-1.0841	9	0.87932	D	0	.	11.2562	0.49056	0.0:0.1859:0.8141:0.0	.	668	P52740	ZN132_HUMAN	C	668;383	ENSP00000254166:S668C	ENSP00000254166:S668C	S	-	2	0	ZNF132	63636620	0.000000	0.05858	0.865000	0.33974	0.897000	0.52465	-0.149000	0.10204	1.419000	0.47118	0.650000	0.86243	TCT		0.468	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		7	64	0	0	0	0	7	64				
SLC5A7	60482	broad.mit.edu	37	2	108622649	108622649	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:108622649G>A	ENST00000264047.2	+	7	1162	c.886G>A	c.(886-888)Gca>Aca	p.A296T	SLC5A7_ENST00000540517.1_Missense_Mutation_p.A191T|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A296T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	296					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGCCATTGGAGCATCAACAGG	0.542																																						uc002tdv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(886-888)GCA>ACA		solute carrier family 5 (choline transporter),	Choline(DB00122)						100.0	94.0	96.0					2																	108622649		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108622649G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.886G>A	2.37:g.108622649G>A	ENSP00000264047:p.Ala296Thr					SLC5A7_uc010ywm.1_Missense_Mutation_p.A49T|SLC5A7_uc010fjj.2_Missense_Mutation_p.A296T|SLC5A7_uc010ywn.1_Missense_Mutation_p.A183T	p.A296T	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			7	1162	+			296			Cytoplasmic (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.886G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288885	0.59976	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.89746	-2.56;-2.56;-2.56	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88894	0.6561	L	0.60455	1.87	0.80722	D	1	B	0.23540	0.087	B	0.33690	0.168	D	0.84020	0.0353	10	0.19590	T	0.45	-18.459	19.8703	0.96847	0.0:0.0:1.0:0.0	.	296	Q9GZV3	SC5A7_HUMAN	T	296;191;296	ENSP00000387346:A296T;ENSP00000445351:A191T;ENSP00000264047:A296T	ENSP00000264047:A296T	A	+	1	0	SLC5A7	107989081	1.000000	0.71417	0.999000	0.59377	0.307000	0.27823	9.767000	0.98960	2.770000	0.95276	0.650000	0.86243	GCA		0.542	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			23	70	0	0	0	0	23	70				
TTN	7273	broad.mit.edu	37	2	179434249	179434249	+	Missense_Mutation	SNP	C	C	T	rs561977468		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:179434249C>T	ENST00000591111.1	-	276	71911	c.71687G>A	c.(71686-71688)cGt>cAt	p.R23896H	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25537H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22969H|TTN_ENST00000342175.6_Missense_Mutation_p.R16664H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16597H|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16472H			Q8WZ42	TITIN_HUMAN	titin	23896	Ig-like 120.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGTAGGACGACCTTTTAT	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20160	0.0		0.0	False		,,,				2504	0.0					uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(68905-68907)CGT>CAT		titin isoform N2-A							97.0	85.0	89.0					2																	179434249		1887	4124	6011	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434249C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71687G>A	2.37:g.179434249C>T	ENSP00000465570:p.Arg23896His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16664H|TTN_uc010zfi.1_Missense_Mutation_p.R16597H|TTN_uc010zfj.1_Missense_Mutation_p.R16472H	p.R22969H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	69130	-			23896					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.68906G>A		.	.	.	.	.	.	.	.	.	.	C	17.98	3.520853	0.64747	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69233	0.3088	L	0.60012	1.86	0.58432	D	0.999999	P;P;P;P	0.42556	0.641;0.641;0.641;0.783	B;B;B;B	0.42555	0.165;0.165;0.165;0.391	T	0.73575	-0.3939	9	0.87932	D	0	.	19.4973	0.95079	0.0:1.0:0.0:0.0	.	16472;16597;16664;23896	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	22969;16472;16664;16597;16470	ENSP00000343764:R22969H;ENSP00000434586:R16472H;ENSP00000340554:R16664H;ENSP00000352154:R16597H	ENSP00000340554:R16664H	R	-	2	0	TTN	179142495	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.089000	0.71384	2.608000	0.88229	0.655000	0.94253	CGT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	42	0	0	0	0	4	42				
TTN	7273	broad.mit.edu	37	2	179648932	179648932	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:179648932C>T	ENST00000591111.1	-	16	2864	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	TTN_ENST00000589042.1_Silent_p.Q880Q|TTN_ENST00000342992.6_Silent_p.Q880Q|TTN_ENST00000342175.6_Silent_p.Q834Q|TTN_ENST00000360870.5_Silent_p.Q880Q|TTN_ENST00000359218.5_Silent_p.Q834Q|TTN_ENST00000460472.2_Silent_p.Q834Q			Q8WZ42	TITIN_HUMAN	titin	33702					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGAAGGGGAACTGTGGCAAGG	0.537																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(2638-2640)CAG>CAA		titin isoform N2-A							136.0	116.0	123.0					2																	179648932		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179648932C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2640G>A	2.37:g.179648932C>T						TTN_uc010zfh.1_Silent_p.Q834Q|TTN_uc010zfi.1_Silent_p.Q834Q|TTN_uc010zfj.1_Silent_p.Q834Q|TTN_uc002unb.2_Silent_p.Q880Q	p.Q880Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		16	2864	-			880					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.2640G>A																																																																																					0.537	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	65	0	0	0	0	17	65				
PDE1A	5136	broad.mit.edu	37	2	183033014	183033014	+	Missense_Mutation	SNP	G	G	C	rs372556064		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:183033014G>C	ENST00000410103.1	-	15	1651	c.1568C>G	c.(1567-1569)gCa>gGa	p.A523G	PDE1A_ENST00000409365.1_Intron|PDE1A_ENST00000536095.1_Intron|PDE1A_ENST00000331935.6_Intron|PDE1A_ENST00000435564.1_Intron|PDE1A_ENST00000351439.5_Missense_Mutation_p.A507G|PDE1A_ENST00000346717.4_Intron|PDE1A_ENST00000358139.2_Missense_Mutation_p.A523G	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	523					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ACTGGTTCTTGCTTCTGAAAA	0.318																																						uc002uos.2		NA																	0				skin(2)|ovary(1)	3						c.(1567-1569)GCA>GGA		phosphodiesterase 1A isoform 2							67.0	66.0	66.0					2																	183033014		2203	4300	6503	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183033014G>C		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1568C>G	2.37:g.183033014G>C	ENSP00000387037:p.Ala523Gly					PDE1A_uc010zfp.1_Intron|PDE1A_uc002uoq.1_Intron|PDE1A_uc010zfq.1_Intron|PDE1A_uc002uor.2_Missense_Mutation_p.A507G|PDE1A_uc002uou.2_Missense_Mutation_p.A489G	p.A523G	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		15	1652	-			523					D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.1568C>G	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	G	3.798	-0.042325	0.07452	.	.	ENSG00000115252	ENST00000351439;ENST00000410103;ENST00000358139	T;T;T	0.71103	-0.54;-0.54;-0.54	3.12	0.124	0.14714	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	.	.	.	.	T	0.44371	0.1290	N	0.08118	0	0.09310	N	1	B;B;B	0.18310	0.027;0.01;0.017	B;B;B	0.19391	0.025;0.007;0.015	T	0.25047	-1.0143	9	0.30854	T	0.27	.	3.7775	0.08667	0.1248:0.0:0.4476:0.4275	.	489;523;507	P54750-3;P54750;P54750-2	.;PDE1A_HUMAN;.	G	507;523;523	ENSP00000309269:A507G;ENSP00000387037:A523G;ENSP00000350858:A523G	ENSP00000309269:A507G	A	-	2	0	PDE1A	182741259	0.259000	0.24043	0.001000	0.08648	0.002000	0.02628	0.167000	0.16602	0.001000	0.14605	0.655000	0.94253	GCA		0.318	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1			10	35	0	0	0	0	10	35				
HECW2	57520	broad.mit.edu	37	2	197189757	197189757	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:197189757C>T	ENST00000260983.3	-	6	870	c.688G>A	c.(688-690)Gag>Aag	p.E230K	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	230	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GACCGTCTCTCCTGCCCGTGG	0.498																																						uc002utm.1		NA																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(688-690)GAG>AAG		HECT, C2 and WW domain containing E3 ubiquitin							272.0	244.0	254.0					2																	197189757		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197189757C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.688G>A	2.37:g.197189757C>T	ENSP00000260983:p.Glu230Lys					HECW2_uc002utl.1_5'UTR	p.E230K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			6	871	-			230			C2.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.688G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714482	0.89112	.	.	ENSG00000138411	ENST00000260983	T	0.37235	1.21	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.053426	0.64402	D	0.000001	T	0.60741	0.2292	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.61946	-0.6958	10	0.62326	D	0.03	.	18.9309	0.92564	0.0:1.0:0.0:0.0	.	230	Q9P2P5	HECW2_HUMAN	K	230	ENSP00000260983:E230K	ENSP00000260983:E230K	E	-	1	0	HECW2	196898002	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	7.228000	0.78079	2.699000	0.92147	0.655000	0.94253	GAG		0.498	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		62	184	0	0	0	0	62	184				
NDUFB3	4709	broad.mit.edu	37	2	201950235	201950235	+	Missense_Mutation	SNP	A	A	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:201950235A>C	ENST00000237889.4	+	3	517	c.194A>C	c.(193-195)gAt>gCt	p.D65A	NDUFB3_ENST00000433898.1_Missense_Mutation_p.D65A|NDUFB3_ENST00000454214.1_Missense_Mutation_p.D65A	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	65					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)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			large_intestine(1)|lung(1)|urinary_tract(1)	3						TCCTTTTCTGATGTATTCTTT	0.363																																						uc002uwx.3		NA																	0					0						c.(193-195)GAT>GCT		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						136.0	137.0	137.0					2																	201950235		2203	4300	6503	SO:0001583	missense	4709				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr2:201950235A>C	AF047183	CCDS2336.1	2q33.1	2011-07-04	2002-08-29		ENSG00000119013	ENSG00000119013		"""Mitochondrial respiratory chain complex / Complex I"""	7698	protein-coding gene	gene with protein product	"""complex I B12 subunit"""	603839	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12)"""			9425316, 11474204	Standard	NM_002491		Approved	B12	uc002uwx.4	O43676	OTTHUMG00000132820	ENST00000237889.4:c.194A>C	2.37:g.201950235A>C	ENSP00000237889:p.Asp65Ala						p.D65A	NM_002491	NP_002482	O43676	NDUB3_HUMAN			3	517	+			65					Q6IB80	Missense_Mutation	SNP	ENST00000237889.4	37	c.194A>C	CCDS2336.1	.	.	.	.	.	.	.	.	.	.	A	8.552	0.875650	0.17395	.	.	ENSG00000119013	ENST00000450023;ENST00000237889;ENST00000433898;ENST00000454214	T;T;T;T	0.80909	-1.43;-1.0;-1.0;-1.0	5.98	5.1	0.69264	.	0.224776	0.44483	D	0.000458	T	0.63850	0.2546	.	.	.	0.24776	N	0.992844	B	0.20164	0.042	B	0.28385	0.089	T	0.49781	-0.8903	9	0.09590	T	0.72	-0.1861	7.7356	0.28812	0.2474:0.0:0.7526:0.0	.	65	O43676	NDUB3_HUMAN	A	65	ENSP00000401834:D65A;ENSP00000237889:D65A;ENSP00000410600:D65A;ENSP00000407336:D65A	ENSP00000237889:D65A	D	+	2	0	NDUFB3	201658480	0.989000	0.36119	0.041000	0.18516	0.022000	0.10575	2.993000	0.49425	1.512000	0.48834	-0.242000	0.12053	GAT		0.363	NDUFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256277.1	NM_002491		3	68	0	0	0	0	3	68				
NBEAL1	65065	broad.mit.edu	37	2	204078305	204078305	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:204078305G>C	ENST00000449802.1	+	54	8245	c.7912G>C	c.(7912-7914)Gaa>Caa	p.E2638Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2638										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTCACCAAAGAATACAGCCA	0.383																																						uc002uzt.3		NA																	0				ovary(1)|skin(1)	2						c.(7912-7914)GAA>CAA		neurobeachin-like 1 isoform 3							153.0	141.0	145.0					2																	204078305		1890	4113	6003	SO:0001583	missense	65065						binding	g.chr2:204078305G>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7912G>C	2.37:g.204078305G>C	ENSP00000399903:p.Glu2638Gln					NBEAL1_uc002uzs.3_Missense_Mutation_p.E1279Q|NBEAL1_uc002uzu.2_Missense_Mutation_p.E133Q	p.E2638Q	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			54	8245	+			2638					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.7912G>C	CCDS46495.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.807384|4.807384	0.90623|0.90623	.|.	.|.	ENSG00000144426|ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576|ENST00000434469	T;T|T	0.28895|0.16897	5.04;1.59|2.31	5.61|5.61	5.61|5.61	0.85477|0.85477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44685|0.44685	0.1305|0.1305	M|M	0.83953|0.83953	2.67|2.67	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	0.998;1.0;0.999|.	D;D;D|.	0.85130|.	0.947;0.997;0.996|.	T|T	0.28396|0.28396	-1.0045|-1.0045	10|7	0.45353|0.37606	T|T	0.12|0.19	.|.	19.6278|19.6278	0.95687|0.95687	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1348;2638;2627|.	D1MPS9;Q6ZS30;C9JGK5|.	.;NBEL1_HUMAN;.|.	Q|N	2638;2548;653|165	ENSP00000399903:E2638Q;ENSP00000388466:E653Q|ENSP00000411142:K165N	ENSP00000344985:E2548Q|ENSP00000411142:K165N	E|K	+|+	1|3	0|2	NBEAL1|NBEAL1	203786550|203786550	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.917000|0.917000	0.54804|0.54804	9.458000|9.458000	0.97634|0.97634	2.629000|2.629000	0.89072|0.89072	0.650000|0.650000	0.86243|0.86243	GAA|AAG		0.383	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			35	93	0	0	0	0	35	93				
SPHKAP	80309	broad.mit.edu	37	2	228884679	228884679	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr2:228884679C>T	ENST00000392056.3	-	7	937	c.891G>A	c.(889-891)caG>caA	p.Q297Q	SPHKAP_ENST00000344657.5_Silent_p.Q297Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	297						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GATCTAGACTCTGCAAGGCTG	0.418																																						uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(889-891)CAG>CAA		sphingosine kinase type 1-interacting protein							230.0	238.0	236.0					2																	228884679		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228884679C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.891G>A	2.37:g.228884679C>T						SPHKAP_uc002vpp.2_Silent_p.Q297Q|SPHKAP_uc010zlx.1_Silent_p.Q297Q	p.Q297Q	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	938	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	297					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.891G>A	CCDS46537.1																																																																																				0.418	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		60	162	0	0	0	0	60	162				
PLCB1	23236	broad.mit.edu	37	20	8713951	8713951	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:8713951C>A	ENST00000338037.6	+	19	1982	c.1955C>A	c.(1954-1956)cCa>cAa	p.P652Q	PLCB1_ENST00000378637.2_Missense_Mutation_p.P652Q|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.P652Q	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	652	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGATTGAAGCCAGAGTTCATG	0.423																																						uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(1954-1956)CCA>CAA		phosphoinositide-specific phospholipase C beta 1							133.0	119.0	124.0					20																	8713951		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8713951C>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1955C>A	20.37:g.8713951C>A	ENSP00000338185:p.Pro652Gln					PLCB1_uc010zrb.1_Missense_Mutation_p.P551Q|PLCB1_uc002wna.2_Missense_Mutation_p.P652Q|PLCB1_uc002wnc.1_Missense_Mutation_p.P551Q|PLCB1_uc002wnd.1_Missense_Mutation_p.P229Q	p.P652Q	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			19	1958	+			652			PI-PLC Y-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1955C>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616718	0.87359	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.80566	-1.39;-1.39;-1.39	5.13	5.13	0.70059	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.94624	0.8267	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97011	0.9736	10	0.87932	D	0	.	18.9382	0.92594	0.0:1.0:0.0:0.0	.	652;652	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	Q	652;652;652;572;572	ENSP00000367908:P652Q;ENSP00000338185:P652Q;ENSP00000367904:P652Q	ENSP00000338185:P652Q	P	+	2	0	PLCB1	8661951	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	6.012000	0.70767	2.532000	0.85374	0.603000	0.83216	CCA		0.423	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			15	67	1	0	2.32e-05	4.66e-05	15	67				
NINL	22981	broad.mit.edu	37	20	25457633	25457633	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:25457633G>A	ENST00000278886.6	-	17	2367	c.2294C>T	c.(2293-2295)cCg>cTg	p.P765L	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	765					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGGTCCCTGCGGCGGCTCCTC	0.692																																						uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2293-2295)CCG>CTG		ninein-like							15.0	16.0	16.0					20																	25457633		2202	4298	6500	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25457633G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.2294C>T	20.37:g.25457633G>A	ENSP00000278886:p.Pro765Leu					NINL_uc010gdn.1_Intron	p.P765L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			17	2368	-			765					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.2294C>T	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	2.368	-0.345092	0.05208	.	.	ENSG00000101004	ENST00000278886	T	0.20881	2.04	3.19	-2.53	0.06326	.	3.955630	0.01029	N	0.004109	T	0.08133	0.0203	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18272	-1.0342	10	0.27785	T	0.31	1.1263	4.0267	0.09690	0.4359:0.1968:0.3673:0.0	.	765	Q9Y2I6	NINL_HUMAN	L	765	ENSP00000278886:P765L	ENSP00000278886:P765L	P	-	2	0	NINL	25405633	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.522000	0.06237	-0.702000	0.05056	-1.587000	0.00848	CCG		0.692	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		12	7	0	0	0	0	12	7				
DIDO1	11083	broad.mit.edu	37	20	61512690	61512690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:61512690G>A	ENST00000266070.4	-	16	4943	c.4618C>T	c.(4618-4620)Cag>Tag	p.Q1540*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.Q1540*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1540					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTGCAGACTGCTGCTCTTGC	0.667																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(4618-4620)CAG>TAG		death inducer-obliterator 1 isoform c							50.0	53.0	52.0					20																	61512690		2202	4298	6500	SO:0001587	stop_gained	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512690G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4618C>T	20.37:g.61512690G>A	ENSP00000266070:p.Gln1540*					DIDO1_uc002yds.1_Nonsense_Mutation_p.Q1540*	p.Q1540*	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4882	-	Breast(26;5.68e-08)		1540					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	c.4618C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	43	10.319317	0.99382	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	.	.	.	5.49	5.49	0.81192	.	0.000000	0.41001	D	0.000980	.	.	.	.	.	.	0.41511	D	0.988341	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-21.253	19.3712	0.94488	0.0:0.0:1.0:0.0	.	.	.	.	X	1540	.	ENSP00000266070:Q1540X	Q	-	1	0	DIDO1	60983135	0.909000	0.30893	0.293000	0.24932	0.052000	0.14988	1.925000	0.40074	2.558000	0.86282	0.655000	0.94253	CAG		0.667	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		45	54	0	0	0	0	45	54				
DIDO1	11083	broad.mit.edu	37	20	61542922	61542922	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:61542922C>T	ENST00000266070.4	-	3	368	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	DIDO1_ENST00000395340.1_Missense_Mutation_p.A15T|DIDO1_ENST00000395335.2_Missense_Mutation_p.A15T|DIDO1_ENST00000370368.1_Missense_Mutation_p.A15T|DIDO1_ENST00000395343.1_Missense_Mutation_p.A15T|DIDO1_ENST00000266071.5_Missense_Mutation_p.A15T|DIDO1_ENST00000370366.1_Missense_Mutation_p.A15T|DIDO1_ENST00000354665.4_Missense_Mutation_p.A15T|DIDO1_ENST00000370371.4_Missense_Mutation_p.A15T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	15					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTTTGATGGCCTTAGGTGCC	0.542																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(43-45)GCC>ACC		death inducer-obliterator 1 isoform c							92.0	84.0	87.0					20																	61542922		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542922C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.43G>A	20.37:g.61542922C>T	ENSP00000266070:p.Ala15Thr					DIDO1_uc002yds.1_Missense_Mutation_p.A15T|DIDO1_uc002ydt.1_Missense_Mutation_p.A15T|DIDO1_uc002ydu.1_Missense_Mutation_p.A15T|DIDO1_uc002ydv.1_Missense_Mutation_p.A15T|DIDO1_uc002ydw.1_Missense_Mutation_p.A15T|DIDO1_uc002ydx.1_Missense_Mutation_p.A15T|DIDO1_uc011aao.1_Missense_Mutation_p.A15T	p.A15T	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			3	307	-	Breast(26;5.68e-08)		15					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.43G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	9.331	1.060649	0.19987	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.18016	3.08;3.08;2.74;2.74;2.24;2.24;2.24;2.25;2.25	5.82	3.84	0.44239	.	0.361243	0.19884	U	0.103898	T	0.11537	0.0281	L	0.36672	1.1	0.31296	N	0.688816	B;B;B;B	0.23377	0.084;0.041;0.041;0.024	B;B;B;B	0.18561	0.022;0.016;0.011;0.007	T	0.08554	-1.0716	10	0.28530	T	0.3	-14.4992	5.3865	0.16220	0.1566:0.615:0.0:0.2284	.	15;15;15;15	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	T	15	ENSP00000266070:A15T;ENSP00000378752:A15T;ENSP00000378749:A15T;ENSP00000378744:A15T;ENSP00000359397:A15T;ENSP00000359394:A15T;ENSP00000346692:A15T;ENSP00000359391:A15T;ENSP00000266071:A15T	ENSP00000266070:A15T	A	-	1	0	DIDO1	61013367	0.976000	0.34144	0.961000	0.40146	0.040000	0.13550	0.328000	0.19681	1.407000	0.46875	0.650000	0.86243	GCC		0.542	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		12	13	0	0	0	0	12	13				
ZNF512B	57473	broad.mit.edu	37	20	62597655	62597655	+	Silent	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:62597655G>T	ENST00000450537.1	-	5	933	c.873C>A	c.(871-873)acC>acA	p.T291T	ZNF512B_ENST00000217130.3_Silent_p.T291T|ZNF512B_ENST00000369888.1_Silent_p.T291T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCACTGGCTTGGTGACCGGCA	0.557																																						uc002yhl.1		NA																	0					0						c.(871-873)ACC>ACA		zinc finger protein 512B							186.0	177.0	180.0					20																	62597655		2203	4300	6503	SO:0001819	synonymous_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597655G>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.873C>A	20.37:g.62597655G>T							p.T291T	NM_020713	NP_065764	Q96KM6	Z512B_HUMAN			5	927	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		291					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.873C>A	CCDS13548.1																																																																																				0.557	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		8	214	1	0	0.000219431	0.000438281	8	214				
U2AF1	7307	broad.mit.edu	37	21	44524445	44524445	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr21:44524445T>G	ENST00000291552.4	-	2	204	c.112A>C	c.(112-114)Aat>Cat	p.N38H	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.N38H	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	38					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTCGGTTTATTGTGCAACCGA	0.343			Mis		"""CLL, MDS"""																																	uc002zda.1		NA		Dom	yes		21	21q22.3	7307		U2 small nuclear RNA auxiliary factor 1			L					0					0						c.(112-114)AAT>CAT		U2 small nuclear RNA auxillary factor 1 isoform							64.0	62.0	63.0					21																	44524445		2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524445T>G	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.112A>C	21.37:g.44524445T>G	ENSP00000291552:p.Asn38His					U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.N38H|U2AF1_uc010gpi.1_Missense_Mutation_p.N38H|U2AF1_uc002zdc.1_Missense_Mutation_p.N38H	p.N38H	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN			2	196	-			38			C3H1-type 1.		Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.112A>C	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926245	0.34002	.	.	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.42513	0.97;0.97	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	M	0.66439	2.03	0.80722	D	1	P;B;B	0.35944	0.529;0.025;0.056	B;B;B	0.44163	0.443;0.076;0.081	T	0.50693	-0.8798	10	0.40728	T	0.16	-12.5292	15.535	0.75996	0.0:0.0:0.0:1.0	.	38;38;38	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	H	38	ENSP00000369629:N38H;ENSP00000291552:N38H	ENSP00000291552:N38H	N	-	1	0	U2AF1	43397514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.216000	0.77974	2.069000	0.61940	0.460000	0.39030	AAT		0.343	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		6	16	0	0	0	0	6	16				
EP300	2033	broad.mit.edu	37	22	41564727	41564727	+	Missense_Mutation	SNP	T	T	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr22:41564727T>G	ENST00000263253.7	+	25	5247	c.4028T>G	c.(4027-4029)tTt>tGt	p.F1343C	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1343	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGTATAGGTTTGTGGACAGT	0.443			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4027-4029)TTT>TGT		E1A binding protein p300							149.0	135.0	140.0					22																	41564727		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41564727T>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4028T>G	22.37:g.41564727T>G	ENSP00000263253:p.Phe1343Cys						p.F1343C	NM_001429	NP_001420	Q09472	EP300_HUMAN			25	4423	+			1343					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4028T>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	T	19.83	3.899589	0.72754	.	.	ENSG00000100393	ENST00000263253	D	0.93811	-3.29	5.95	5.95	0.96441	.	0.000000	0.49916	D	0.000122	D	0.97611	0.9217	M	0.93678	3.445	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.98595	1.0656	10	0.87932	D	0	-9.9935	16.4069	0.83677	0.0:0.0:0.0:1.0	.	1343	Q09472	EP300_HUMAN	C	1343	ENSP00000263253:F1343C	ENSP00000263253:F1343C	F	+	2	0	EP300	39894673	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	8.040000	0.89188	2.272000	0.75746	0.460000	0.39030	TTT		0.443	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		17	46	0	0	0	0	17	46				
PLCL2	23228	broad.mit.edu	37	3	17084400	17084400	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:17084400C>T	ENST00000418129.2	+	4	3140	c.2675C>T	c.(2674-2676)gCa>gTa	p.A892V	PLCL2_ENST00000432376.1_Missense_Mutation_p.A892V|PLCL2-AS1_ENST00000414844.2_RNA|PLCL2_ENST00000396755.2_Missense_Mutation_p.A892V	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1018					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATTGAAAATGCAGATGCTGTA	0.403																																						uc011awc.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(3028-3030)GCA>GTA		phospholipase C-like 2 isoform 1							219.0	212.0	214.0					3																	17084400		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17084400C>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2675C>T	3.37:g.17084400C>T	ENSP00000409637:p.Ala892Val					PLCL2_uc011awd.1_Missense_Mutation_p.A892V	p.A1010V	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			7	3134	+			1018					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.3029C>T	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.883117|4.883117	0.91740|0.91740	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376|ENST00000419842	T;T;T|.	0.19669|.	2.13;2.13;2.13|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.149124|.	0.64402|.	D|.	0.000013|.	T|.	0.74176|.	0.3682|.	.|.	.|.	.|.	0.52501|0.52501	D|D	0.999955|0.999955	P|.	0.47677|.	0.899|.	P|.	0.53224|.	0.721|.	T|.	0.71354|.	-0.4618|.	9|.	0.87932|.	D|.	0|.	.|.	17.4182|17.4182	0.87506|0.87506	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1018|.	Q9UPR0|.	PLCL2_HUMAN|.	V|X	892;1019;892;892|636	ENSP00000409637:A892V;ENSP00000379979:A892V;ENSP00000412836:A892V|.	ENSP00000285094:A1019V|.	A|Q	+|+	2|1	0|0	PLCL2|PLCL2	17059404|17059404	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.662000|4.662000	0.61525|0.61525	2.856000|2.856000	0.98102|0.98102	0.644000|0.644000	0.83932|0.83932	GCA|CAG		0.403	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			30	41	0	0	0	0	30	41				
SMARCC1	6599	broad.mit.edu	37	3	47703871	47703871	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:47703871G>A	ENST00000254480.5	-	20	2230	c.2111C>T	c.(2110-2112)tCt>tTt	p.S704F	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	704					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GTCCACCACAGATGCCAAAAA	0.493																																						uc003crq.2		NA																	0				skin(2)|lung(1)	3						c.(2110-2112)TCT>TTT		SWI/SNF-related matrix-associated							75.0	72.0	73.0					3																	47703871		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47703871G>A	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2111C>T	3.37:g.47703871G>A	ENSP00000254480:p.Ser704Phe					SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.S595F	p.S704F	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	20	2229	-			704					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.2111C>T	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.015997	0.93404	.	.	ENSG00000173473	ENST00000254480	T	0.55930	0.49	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.75295	0.3830	M	0.89287	3.02	0.80722	D	1	D	0.61080	0.989	P	0.59703	0.862	T	0.80390	-0.1402	10	0.87932	D	0	-22.7973	18.6546	0.91448	0.0:0.0:1.0:0.0	.	704	Q92922	SMRC1_HUMAN	F	704	ENSP00000254480:S704F	ENSP00000254480:S704F	S	-	2	0	SMARCC1	47678875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.618000	0.98365	2.714000	0.92807	0.591000	0.81541	TCT		0.493	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			9	21	0	0	0	0	9	21				
ERC2	26059	broad.mit.edu	37	3	56468821	56468821	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:56468821G>T	ENST00000288221.6	-	2	470	c.215C>A	c.(214-216)tCa>tAa	p.S72*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	72						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTAGGTTGTTGAAGCCACCCC	0.507																																						uc003dhr.1		NA																	0				ovary(2)	2						c.(214-216)TCA>TAA		cytomatrix protein p110							176.0	170.0	172.0					3																	56468821		2023	4180	6203	SO:0001587	stop_gained	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468821G>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.215C>A	3.37:g.56468821G>T	ENSP00000288221:p.Ser72*						p.S72*	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	2	471	-			72					Q2T9F6|Q86TK4	Nonsense_Mutation	SNP	ENST00000288221.6	37	c.215C>A	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	39	7.441384	0.98286	.	.	ENSG00000187672	ENST00000288221	.	.	.	5.76	5.76	0.90799	.	0.058312	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3325	19.9759	0.97304	0.0:0.0:1.0:0.0	.	.	.	.	X	72	.	ENSP00000288221:S72X	S	-	2	0	ERC2	56443861	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.476000	0.97823	2.713000	0.92767	0.655000	0.94253	TCA		0.507	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		46	70	1	0	6.77e-33	1.43e-32	46	70				
CLSTN2	64084	broad.mit.edu	37	3	140251315	140251315	+	Silent	SNP	C	C	A	rs185070184		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:140251315C>A	ENST00000458420.3	+	9	1684	c.1494C>A	c.(1492-1494)ggC>ggA	p.G498G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	498					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCACAGTCGGCGCTTGTTGGC	0.443										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(1492-1494)GGC>GGA		calsyntenin 2 precursor							136.0	112.0	120.0					3																	140251315		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140251315C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1494C>A	3.37:g.140251315C>A		HNSCC(16;0.037)				CLSTN2_uc003etm.2_Silent_p.G498G	p.G498G	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			9	1684	+			498			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1494C>A	CCDS3112.1																																																																																				0.443	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		24	72	1	0	0.000117367	0.000235046	24	72				
YEATS2	55689	broad.mit.edu	37	3	183469895	183469895	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:183469895G>A	ENST00000305135.5	+	10	1199	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	335					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATTCTCTCGGAGAAGACTGT	0.493																																						uc003fly.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(1003-1005)GGA>GAA		YEATS domain containing 2							198.0	189.0	192.0					3																	183469895		1981	4163	6144	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183469895G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1004G>A	3.37:g.183469895G>A	ENSP00000306983:p.Gly335Glu						p.G335E	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		10	1199	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		335					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.1004G>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216002	0.58452	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.23950	1.88	5.35	5.35	0.76521	.	0.073838	0.52532	D	0.000070	T	0.21307	0.0513	L	0.32530	0.975	0.48395	D	0.999641	P	0.38922	0.651	B	0.33521	0.165	T	0.02526	-1.1146	10	0.46703	T	0.11	-14.0841	17.2282	0.86977	0.0:0.0:1.0:0.0	.	335	Q9ULM3	YETS2_HUMAN	E	335	ENSP00000306983:G335E	ENSP00000306983:G335E	G	+	2	0	YEATS2	184952589	1.000000	0.71417	0.958000	0.39756	0.706000	0.40770	7.189000	0.77747	2.507000	0.84556	0.655000	0.94253	GGA		0.493	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		49	117	0	0	0	0	49	117				
EIF4G1	1981	broad.mit.edu	37	3	184043328	184043328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:184043328G>T	ENST00000346169.2	+	20	3293	c.3022G>T	c.(3022-3024)Gag>Tag	p.E1008*	EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.E1015*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.E922*|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.E812*|EIF4G1_ENST00000342981.4_Nonsense_Mutation_p.E1009*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.E845*|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.E813*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.E969*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.E921*|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.E968*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.E1015*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.E844*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.E1015*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.E1008*	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1008	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATCCATAAGGAGGCTGAGAT	0.587																																						uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3022-3024)GAG>TAG		eukaryotic translation initiation factor 4							115.0	108.0	111.0					3																	184043328		2203	4300	6503	SO:0001587	stop_gained	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184043328G>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3022G>T	3.37:g.184043328G>T	ENSP00000316879:p.Glu1008*					EIF4G1_uc003fnt.2_Nonsense_Mutation_p.E719*|EIF4G1_uc003fnq.2_Nonsense_Mutation_p.E921*|EIF4G1_uc003fnr.2_Nonsense_Mutation_p.E844*|EIF4G1_uc010hxx.2_Nonsense_Mutation_p.E1015*|EIF4G1_uc003fns.2_Nonsense_Mutation_p.E968*|EIF4G1_uc010hxy.2_Nonsense_Mutation_p.E1015*|EIF4G1_uc003fnv.3_Nonsense_Mutation_p.E1009*|EIF4G1_uc003fnu.3_Nonsense_Mutation_p.E1008*|EIF4G1_uc003fnw.2_Nonsense_Mutation_p.E1015*|EIF4G1_uc003fnx.2_Nonsense_Mutation_p.E813*|EIF4G1_uc003fny.3_Nonsense_Mutation_p.E812*|SNORD66_uc003fnz.2_5'Flank	p.E1008*	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		20	3220	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1008			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Nonsense_Mutation	SNP	ENST00000346169.2	37	c.3022G>T	CCDS3259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.271024|8.271024	0.98735|0.98735	.|.	.|.	ENSG00000114867|ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046|ENST00000448284	.|.	.|.	.|.	5.53|5.53	4.64|4.64	0.57946|0.57946	.|.	0.101796|.	0.64402|.	D|.	0.000003|.	.|T	.|0.71517	.|0.3349	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74405	.|-0.3676	.|3	0.72032|.	D|.	0.01|.	-18.5539|-18.5539	16.2817|16.2817	0.82692|0.82692	0.0:0.1326:0.8674:0.0|0.0:0.1326:0.8674:0.0	.|.	.|.	.|.	.|.	X|S	1008;968;921;1015;844;1015;922;1009;1008;1015;969;845;813;812|59	.|.	ENSP00000323737:E1008X|.	E|R	+|+	1|3	0|2	EIF4G1|EIF4G1	185526022|185526022	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.528000|9.528000	0.98046|0.98046	1.310000|1.310000	0.45006|0.45006	0.561000|0.561000	0.74099|0.74099	GAG|AGG		0.587	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		48	122	1	0	5.49e-27	1.15e-26	48	122				
EIF4G1	1981	broad.mit.edu	37	3	184045463	184045463	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:184045463G>C	ENST00000346169.2	+	25	4022	c.3751G>C	c.(3751-3753)Gag>Cag	p.E1251Q	EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1258Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E1165Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E1055Q|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E1252Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E1088Q|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E1056Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.E1212Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E1164Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E1211Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1258Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E1087Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1258Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1251Q	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1251	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCTATCATTGAGGAATATCT	0.557																																						uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3751-3753)GAG>CAG		eukaryotic translation initiation factor 4							70.0	71.0	70.0					3																	184045463		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184045463G>C	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3751G>C	3.37:g.184045463G>C	ENSP00000316879:p.Glu1251Gln					EIF4G1_uc003fnt.2_Missense_Mutation_p.E962Q|EIF4G1_uc003fnq.2_Missense_Mutation_p.E1164Q|EIF4G1_uc003fnr.2_Missense_Mutation_p.E1087Q|EIF4G1_uc010hxx.2_Missense_Mutation_p.E1258Q|EIF4G1_uc003fns.2_Missense_Mutation_p.E1211Q|EIF4G1_uc010hxy.2_Missense_Mutation_p.E1258Q|EIF4G1_uc003fnv.3_Missense_Mutation_p.E1252Q|EIF4G1_uc003fnu.3_Missense_Mutation_p.E1251Q|EIF4G1_uc003fnw.2_Missense_Mutation_p.E1258Q|EIF4G1_uc003fnx.2_Missense_Mutation_p.E1056Q|EIF4G1_uc003fny.3_Missense_Mutation_p.E1055Q|EIF4G1_uc003foa.2_5'Flank	p.E1251Q	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		25	3949	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1251			MI.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3751G>C	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966089	0.92855	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.2	5.2	0.72013	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.097035	0.64402	D	0.000002	T	0.50922	0.1644	L	0.52364	1.645	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.71414	0.941;0.973;0.973	T	0.43343	-0.9397	10	0.48119	T	0.1	-11.7291	18.9316	0.92568	0.0:0.0:1.0:0.0	.	1258;1252;1251	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	Q	1251;1211;1164;1258;1087;1258;1165;1252;1251;1258;1212;1088;1056;1055	ENSP00000316879:E1251Q;ENSP00000391935:E1211Q;ENSP00000376320:E1164Q;ENSP00000371767:E1258Q;ENSP00000317600:E1087Q;ENSP00000338020:E1258Q;ENSP00000407682:E1165Q;ENSP00000343450:E1252Q;ENSP00000323737:E1251Q;ENSP00000416255:E1258Q;ENSP00000395974:E1212Q;ENSP00000399858:E1088Q;ENSP00000411826:E1056Q;ENSP00000404754:E1055Q	ENSP00000323737:E1251Q	E	+	1	0	EIF4G1	185528157	1.000000	0.71417	0.977000	0.42913	0.973000	0.67179	7.221000	0.78016	2.691000	0.91804	0.655000	0.94253	GAG		0.557	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		28	74	0	0	0	0	28	74				
HRG	3273	broad.mit.edu	37	3	186392970	186392970	+	Silent	SNP	C	C	T	rs151028119		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:186392970C>T	ENST00000232003.4	+	6	812	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	244	Cystatin 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GTGAAGTCTTCGACCCTCAGG	0.433																																						uc003fqq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(730-732)TTC>TTT		histidine-rich glycoprotein precursor		C		1,4405	2.1+/-5.4	0,1,2202	163.0	166.0	165.0		732	-0.5	0.0	3	dbSNP_134	165	0,8600		0,0,4300	no	coding-synonymous	HRG	NM_000412.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		244/526	186392970	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186392970C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.732C>T	3.37:g.186392970C>T							p.F244F	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	6	755	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		244			Cystatin 2.		B9EK35|D3DNU7	Silent	SNP	ENST00000232003.4	37	c.732C>T	CCDS3280.1																																																																																				0.433	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		28	243	0	0	0	0	28	243				
NRROS	375387	broad.mit.edu	37	3	196381413	196381413	+	Start_Codon_SNP	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr3:196381413G>A	ENST00000328557.4	+	2	206	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	1					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CCCTTGAGATGGAGTTGCTGC	0.567																																						uc003fwv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1-3)ATG>ATA		leucine rich repeat containing 33 precursor							123.0	104.0	110.0					3																	196381413		2203	4300	6503	SO:0001582	initiator_codon_variant	375387					integral to membrane		g.chr3:196381413G>A	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.3G>A	3.37:g.196381413G>A	ENSP00000328625:p.Met1Ile						p.M1I	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	2	107	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		1						Missense_Mutation	SNP	ENST00000328557.4	37	c.3G>A	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811358	0.90707	.	.	ENSG00000174004	ENST00000328557	T	0.43688	0.94	5.42	5.42	0.78866	.	0.190074	0.48286	D	0.000188	T	0.65790	0.2725	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.68538	-0.5382	9	0.87932	D	0	.	16.5329	0.84366	0.0:0.0:1.0:0.0	.	1	Q86YC3	LRC33_HUMAN	I	1	ENSP00000328625:M1I	ENSP00000328625:M1I	M	+	3	0	LRRC33	197865810	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.224000	0.65288	2.826000	0.97356	0.563000	0.77884	ATG		0.567	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565	Missense_Mutation	13	58	0	0	0	0	13	58				
FRYL	285527	broad.mit.edu	37	4	48622739	48622739	+	Silent	SNP	G	G	A	rs377561266		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:48622739G>A	ENST00000503238.1	-	3	230	c.231C>T	c.(229-231)acC>acT	p.T77T	FRYL_ENST00000507711.1_Silent_p.T77T|FRYL_ENST00000537810.1_Silent_p.T77T|FRYL_ENST00000358350.4_Silent_p.T77T|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	77					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						AGTCAAACAAGGTGCGAAGTA	0.398																																						uc003gyh.1		NA																	0				skin(1)	1						c.(229-231)ACC>ACT		furry-like		G		0,3766		0,0,1883	156.0	145.0	148.0		231	5.9	1.0	4		148	1,8223		0,1,4111	no	coding-synonymous	FRYL	NM_015030.1		0,1,5994	AA,AG,GG		0.0122,0.0,0.0083		77/3014	48622739	1,11989	1883	4112	5995	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48622739G>A	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.231C>T	4.37:g.48622739G>A						FRYL_uc003gyk.2_Silent_p.T77T|FRYL_uc003gyl.1_Silent_p.T128T|FRYL_uc003gym.1_Silent_p.T77T	p.T77T	NM_015030	NP_055845	O94915	FRYL_HUMAN			6	836	-			77					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.231C>T	CCDS43227.1																																																																																				0.398	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			26	48	0	0	0	0	26	48				
HELQ	113510	broad.mit.edu	37	4	84352817	84352817	+	Splice_Site	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:84352817C>T	ENST00000295488.3	-	11	2457	c.2295G>A	c.(2293-2295)aaG>aaA	p.K765K	HELQ_ENST00000510985.1_Splice_Site_p.K698K	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	765					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGAAAAATACCTTCAAACCAA	0.289								Other identified genes with known or suspected DNA repair function																														uc003hom.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2293-2295)AAG>AAA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308							44.0	49.0	47.0					4																	84352817		2201	4291	6492	SO:0001630	splice_region_variant	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84352817C>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2295+1G>A	4.37:g.84352817C>T						HELQ_uc010ikb.2_Silent_p.K698K|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	p.K765K	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			11	2474	-			765					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	c.2295G>A	CCDS3603.1																																																																																				0.289	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636	Silent	12	29	0	0	0	0	12	29				
WDFY3	23001	broad.mit.edu	37	4	85707147	85707147	+	Silent	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:85707147T>C	ENST00000295888.4	-	24	4454	c.4047A>G	c.(4045-4047)aaA>aaG	p.K1349K	WDFY3_ENST00000322366.6_Silent_p.K1349K	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1349					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAGCAATGGCTTTGCTATCCA	0.418																																						uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(4045-4047)AAA>AAG		WD repeat and FYVE domain containing 3 isoform							193.0	160.0	172.0					4																	85707147		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85707147T>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4047A>G	4.37:g.85707147T>C							p.K1349K	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	24	4455	-		Hepatocellular(203;0.114)	1349					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.4047A>G	CCDS3609.1																																																																																				0.418	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		24	46	0	0	0	0	24	46				
AFF1	4299	broad.mit.edu	37	4	87968051	87968051	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:87968051T>C	ENST00000307808.6	+	3	763	c.343T>C	c.(343-345)Tcc>Ccc	p.S115P	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.S122P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	115					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCACCACCAGTCCATTCACAC	0.488																																						uc003hqj.3		NA																	0				breast(1)	1						c.(343-345)TCC>CCC		myeloid/lymphoid or mixed-lineage leukemia							126.0	125.0	125.0					4																	87968051		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968051T>C	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.343T>C	4.37:g.87968051T>C	ENSP00000305689:p.Ser115Pro					AFF1_uc011ccx.1_Missense_Mutation_p.S56P|AFF1_uc003hqh.1_Missense_Mutation_p.S122P|AFF1_uc011ccy.1_Missense_Mutation_p.S122P|AFF1_uc011ccz.1_Missense_Mutation_p.S122P|AFF1_uc003hqk.3_Missense_Mutation_p.S115P|AFF1_uc011cda.1_Intron	p.S115P	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	750	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	115					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.343T>C	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.483036	0.01027	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.71	1.59	0.23543	.	0.633846	0.16317	N	0.219740	T	0.26048	0.0635	N	0.00656	-1.285	0.23809	N	0.996783	B;B;B;B;B;B	0.17852	0.024;0.0;0.0;0.019;0.019;0.024	B;B;B;B;B;B	0.14578	0.01;0.001;0.001;0.011;0.011;0.01	T	0.37009	-0.9724	10	0.02654	T	1	-2.2037	7.6671	0.28437	0.0:0.6277:0.1307:0.2416	.	122;122;56;115;115;122	E9PBM3;B4DXZ8;B4DJM6;Q14C88;P51825;B4DTU1	.;.;.;.;AFF1_HUMAN;.	P	122;122;122;122;115	ENSP00000378578:S122P;ENSP00000427593:S122P;ENSP00000424483:S122P;ENSP00000305689:S115P	ENSP00000305689:S115P	S	+	1	0	AFF1	88187075	0.001000	0.12720	0.525000	0.27900	0.371000	0.29859	-0.161000	0.10026	0.680000	0.31366	0.482000	0.46254	TCC		0.488	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		18	98	0	0	0	0	18	98				
SPP1	6696	broad.mit.edu	37	4	88903947	88903947	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:88903947G>T	ENST00000395080.3	+	7	971	c.844G>T	c.(844-846)Gaa>Taa	p.E282*	SPP1_ENST00000360804.4_Nonsense_Mutation_p.E255*|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000237623.7_Nonsense_Mutation_p.E268*	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	282					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TCACAGCCATGAAGATATGCT	0.398																																						uc003hra.2		NA																	0				ovary(1)	1						c.(844-846)GAA>TAA		secreted phosphoprotein 1 isoform a							105.0	114.0	111.0					4																	88903947		2203	4300	6503	SO:0001587	stop_gained	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88903947G>T		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.844G>T	4.37:g.88903947G>T	ENSP00000378517:p.Glu282*					SPP1_uc003hrb.2_Nonsense_Mutation_p.E255*|SPP1_uc003hrc.2_Nonsense_Mutation_p.E268*|SPP1_uc011cde.1_Nonsense_Mutation_p.E295*|SPP1_uc003hrd.2_Nonsense_Mutation_p.E241*	p.E282*	NM_001040058	NP_001035147	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	7	1009	+		Hepatocellular(203;0.114)	282					B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Nonsense_Mutation	SNP	ENST00000395080.3	37	c.844G>T	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341353	0.41498	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	.	.	.	5.27	4.43	0.53597	.	0.376443	0.25388	N	0.031026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-15.5944	9.3759	0.38283	0.0952:0.0:0.9048:0.0	.	.	.	.	X	260;241;268;282;255;241	.	ENSP00000237623:E268X	E	+	1	0	SPP1	89122971	0.956000	0.32656	0.021000	0.16686	0.009000	0.06853	2.617000	0.46385	1.446000	0.47643	0.643000	0.83706	GAA		0.398	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			11	108	1	0	0.00185496	0.0036661	11	108				
ENPEP	2028	broad.mit.edu	37	4	111397718	111397718	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:111397718G>A	ENST00000265162.5	+	1	490	c.148G>A	c.(148-150)Ggg>Agg	p.G50R		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	50					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CGGGGACGGCGGGCCGGGCAC	0.642																																						uc003iab.3		NA																	0				skin(3)|ovary(1)|breast(1)	5						c.(148-150)GGG>AGG		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						138.0	135.0	136.0					4																	111397718		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397718G>A	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.148G>A	4.37:g.111397718G>A	ENSP00000265162:p.Gly50Arg						p.G50R	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	490	+		Hepatocellular(203;0.217)	50			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.148G>A	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.930010	0.52759	.	.	ENSG00000138792	ENST00000265162	T	0.01272	5.07	4.21	2.44	0.29823	.	1.375690	0.04869	N	0.445571	T	0.02571	0.0078	L	0.43152	1.355	0.09310	N	1	D	0.54601	0.967	P	0.47251	0.542	T	0.51140	-0.8743	10	0.22706	T	0.39	.	8.3022	0.32021	0.0834:0.0:0.7611:0.1555	.	50	Q07075	AMPE_HUMAN	R	50	ENSP00000265162:G50R	ENSP00000265162:G50R	G	+	1	0	ENPEP	111617167	.	.	0.000000	0.03702	0.008000	0.06430	.	.	0.248000	0.21435	0.313000	0.20887	GGG		0.642	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			38	108	0	0	0	0	38	108				
RXFP3	51289	broad.mit.edu	37	5	33937017	33937017	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:33937017G>T	ENST00000330120.3	+	1	527	c.172G>T	c.(172-174)Gac>Tac	p.D58Y		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	58					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGAGTTGCCGGACGGCGCGCC	0.687																																						uc003jic.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(172-174)GAC>TAC		relaxin/insulin-like family peptide receptor 3							54.0	68.0	63.0					5																	33937017		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937017G>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.172G>T	5.37:g.33937017G>T	ENSP00000328708:p.Asp58Tyr						p.D58Y	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	529	+			58			Extracellular (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.172G>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402610	0.62288	.	.	ENSG00000182631	ENST00000330120	T	0.70631	-0.5	5.43	5.43	0.79202	.	0.171741	0.36932	N	0.002332	T	0.69726	0.3143	N	0.24115	0.695	0.38508	D	0.948398	D	0.67145	0.996	P	0.57371	0.819	T	0.74583	-0.3617	10	0.66056	D	0.02	-25.7386	12.8922	0.58078	0.0746:0.0:0.9254:0.0	.	58	Q9NSD7	RL3R1_HUMAN	Y	58	ENSP00000328708:D58Y	ENSP00000328708:D58Y	D	+	1	0	RXFP3	33972774	0.855000	0.29742	0.955000	0.39395	0.857000	0.48899	2.880000	0.48530	2.704000	0.92352	0.655000	0.94253	GAC		0.687	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		41	59	1	0	1.16e-17	2.41e-17	41	59				
SKP2	6502	broad.mit.edu	37	5	36152987	36152987	+	Silent	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:36152987G>C	ENST00000274255.6	+	2	319	c.123G>C	c.(121-123)ctG>ctC	p.L41L	RNU6-1305P_ENST00000364353.1_RNA|SKP2_ENST00000508514.1_Silent_p.L41L|LMBRD2_ENST00000296603.4_5'Flank|SKP2_ENST00000546211.1_5'UTR|SKP2_ENST00000274254.5_Silent_p.L41L	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	41					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTCCGCCCTGGAGAAAGAGG	0.592																																						uc003jkc.1		NA																	0				central_nervous_system(2)|ovary(1)|breast(1)	4						c.(121-123)CTG>CTC		S-phase kinase-associated protein 2 isoform 1							46.0	46.0	46.0					5																	36152987		2203	4300	6503	SO:0001819	synonymous_variant	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36152987G>C	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.123G>C	5.37:g.36152987G>C						SKP2_uc011cou.1_5'UTR|SKP2_uc003jkd.2_Silent_p.L41L|LMBRD2_uc003jkb.1_5'Flank	p.L41L	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	305	+	all_lung(31;5.63e-05)		41					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Silent	SNP	ENST00000274255.6	37	c.123G>C	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	G	9.931	1.214802	0.22373	.	.	ENSG00000145604	ENST00000308927	.	.	.	5.88	0.969	0.19686	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1026	0.10020	0.1179:0.098:0.3914:0.3927	.	.	.	.	.	-1	.	.	.	+	.	.	SKP2	36188744	1.000000	0.71417	0.903000	0.35520	0.961000	0.63080	0.588000	0.23924	-0.101000	0.12219	-0.175000	0.13238	.		0.592	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		14	43	0	0	0	0	14	43				
CCNB1	891	broad.mit.edu	37	5	68471233	68471233	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:68471233G>A	ENST00000256442.5	+	7	1205	c.952G>A	c.(952-954)Gag>Aag	p.E318K	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	318					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GGTTGATGTCGAGCAACATAC	0.393																																						uc003jvm.2		NA																	0					0						c.(952-954)GAG>AAG		cyclin B1							159.0	148.0	152.0					5																	68471233		2203	4300	6503	SO:0001583	missense	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68471233G>A	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.952G>A	5.37:g.68471233G>A	ENSP00000256442:p.Glu318Lys					CCNB1_uc011crd.1_Missense_Mutation_p.E318K|CCNB1_uc010ixb.2_Missense_Mutation_p.E318K	p.E318K	NM_031966	NP_114172	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	7	1129	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	318					A8K066|Q5TZP9	Missense_Mutation	SNP	ENST00000256442.5	37	c.952G>A	CCDS3997.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818015	0.50633	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000505500;ENST00000507798	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	6.17	6.17	0.99709	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	L	0.51914	1.62	0.80722	D	1	D;B;B	0.57899	0.981;0.425;0.037	P;B;B	0.52514	0.701;0.064;0.006	T	0.00229	-1.1898	10	0.33141	T	0.24	.	15.7666	0.78131	0.0:0.1366:0.8634:0.0	.	318;318;318	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	K	318;318;318;134	ENSP00000256442:E318K;ENSP00000423387:E318K;ENSP00000424588:E318K;ENSP00000426230:E134K	ENSP00000256442:E318K	E	+	1	0	CCNB1	68506989	1.000000	0.71417	0.997000	0.53966	0.449000	0.32228	4.494000	0.60347	2.941000	0.99782	0.655000	0.94253	GAG		0.393	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		23	79	0	0	0	0	23	79				
ARHGEF28	64283	broad.mit.edu	37	5	73205674	73205674	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:73205674C>T	ENST00000426542.2	+	33	4619	c.4599C>T	c.(4597-4599)caC>caT	p.H1533H	ARHGEF28_ENST00000296794.6_Silent_p.H1533H|ARHGEF28_ENST00000296799.4_Silent_p.H1220H|ARHGEF28_ENST00000287898.5_Silent_p.H1489H|ARHGEF28_ENST00000513042.2_Silent_p.H1533H|ARHGEF28_ENST00000437974.1_Silent_p.H1533H|ARHGEF28_ENST00000512883.1_Silent_p.H453H|ARHGEF28_ENST00000545377.1_Silent_p.H1533H			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1533	Interaction with microtubules. {ECO:0000250}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										ACTGGAAGCACGGCCGGCAGA	0.706																																						uc011csq.1		NA																	0					0						c.(4597-4599)CAC>CAT		Rho-guanine nucleotide exchange factor							6.0	7.0	7.0					5																	73205674		1727	3858	5585	SO:0001819	synonymous_variant	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73205674C>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.4599C>T	5.37:g.73205674C>T						RGNEF_uc003kcx.2_Silent_p.H1533H|RGNEF_uc010izf.2_Silent_p.H1533H|RGNEF_uc011csr.1_Silent_p.H1220H|RGNEF_uc003kcz.3_Silent_p.H497H|RGNEF_uc003kda.3_Silent_p.H453H	p.H1533H	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	33	4610	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	1533			Interaction with microtubules (By similarity).		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Silent	SNP	ENST00000426542.2	37	c.4599C>T	CCDS54870.1																																																																																				0.706	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			7	6	0	0	0	0	7	6				
ERAP1	51752	broad.mit.edu	37	5	96121617	96121617	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:96121617G>A	ENST00000443439.2	-	13	1884	c.1818C>T	c.(1816-1818)ggC>ggT	p.G606G	ERAP1_ENST00000296754.3_Silent_p.G606G|CTD-2260A17.1_ENST00000602972.1_RNA|CTD-2260A17.1_ENST00000512856.1_RNA|ERAP1_ENST00000514604.1_5'UTR	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	606					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CAATGTAATAGCCATTCATGC	0.428																																						uc003kmm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1816-1818)GGC>GGT		type 1 tumor necrosis factor receptor shedding							133.0	111.0	118.0					5																	96121617		2203	4300	6503	SO:0001819	synonymous_variant	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96121617G>A	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1818C>T	5.37:g.96121617G>A						ERAP1_uc003kml.2_Silent_p.G606G|ERAP1_uc010jbm.1_Silent_p.G418G|ERAP1_uc003kmn.2_Silent_p.G606G	p.G606G	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	13	2165	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	606			Lumenal (Potential).		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Silent	SNP	ENST00000443439.2	37	c.1818C>T	CCDS47250.1																																																																																				0.428	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		30	31	0	0	0	0	30	31				
SEC24A	10802	broad.mit.edu	37	5	134033594	134033594	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:134033594A>G	ENST00000398844.2	+	15	2401	c.2113A>G	c.(2113-2115)Att>Gtt	p.I705V		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	705					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGGTTGTATTTCTCGGTA	0.373																																						uc003kzs.2		NA																	0					0						c.(2113-2115)ATT>GTT		SEC24 related gene family, member A							215.0	197.0	203.0					5																	134033594		1916	4128	6044	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134033594A>G	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2113A>G	5.37:g.134033594A>G	ENSP00000381823:p.Ile705Val					SEC24A_uc011cxu.1_Missense_Mutation_p.I469V	p.I705V	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2401	+			705					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.2113A>G	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.512373	0.44660	.	.	ENSG00000113615	ENST00000398844	T	0.42900	0.96	5.6	5.6	0.85130	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	N	0.04880	-0.145	0.80722	D	1	B;B	0.19445	0.006;0.036	B;B	0.28849	0.017;0.095	T	0.11446	-1.0587	10	0.02654	T	1	-21.4265	15.7792	0.78246	1.0:0.0:0.0:0.0	.	469;705	B4E205;O95486	.;SC24A_HUMAN	V	705	ENSP00000381823:I705V	ENSP00000381823:I705V	I	+	1	0	SEC24A	134061493	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.431000	0.80335	2.129000	0.65627	0.383000	0.25322	ATT		0.373	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			47	50	0	0	0	0	47	50				
PCDHA10	56139	broad.mit.edu	37	5	140236912	140236912	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr5:140236912C>T	ENST00000307360.5	+	1	1279	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R427W|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	427	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACCGCGCGGGACGGGGG	0.647																																						uc003lhx.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(1279-1281)CGG>TGG		protocadherin alpha 10 isoform 1 precursor							107.0	103.0	104.0					5																	140236912		2197	4274	6471	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140236912C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1279C>T	5.37:g.140236912C>T	ENSP00000304234:p.Arg427Trp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.R427W|PCDHA10_uc011dad.1_Missense_Mutation_p.R427W	p.R427W	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1279	+			427			Cadherin 4.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1279C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	c	1.577	-0.532706	0.04112	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.54866	4.63;0.55	3.96	-3.24	0.05094	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.29158	0.0725	N	0.25825	0.765	0.09310	N	1	P;P;B	0.41748	0.761;0.589;0.048	B;B;B	0.34779	0.189;0.16;0.052	T	0.19549	-1.0302	9	0.87932	D	0	.	2.8682	0.05608	0.4522:0.2977:0.1017:0.1485	.	427;427;427	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	W	427	ENSP00000421030:R427W;ENSP00000304234:R427W	ENSP00000304234:R427W	R	+	1	2	PCDHA10	140217096	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.579000	0.02123	-0.455000	0.07054	-0.231000	0.12243	CGG		0.647	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		8	209	0	0	0	0	8	209				
HIST1H3C	8352	broad.mit.edu	37	6	26045674	26045674	+	Silent	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:26045674C>G	ENST00000540144.1	+	1	36	c.36C>G	c.(34-36)acC>acG	p.T12T	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	12					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GCAAGTCTACCGGCGGCAAAG	0.547																																						uc003nfv.2		NA																	0				ovary(1)	1						c.(34-36)ACC>ACG		histone cluster 1, H3c							43.0	47.0	46.0					6																	26045674		2202	4297	6499	SO:0001819	synonymous_variant	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045674C>G	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.36C>G	6.37:g.26045674C>G						HIST1H2BB_uc003nfu.2_5'Flank	p.T12T	NM_003531	NP_003522	P68431	H31_HUMAN			1	36	+			12					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000540144.1	37	c.36C>G	CCDS4576.1																																																																																				0.547	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		16	65	0	0	0	0	16	65				
ZBED9	114821	broad.mit.edu	37	6	28541559	28541559	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:28541559C>G	ENST00000452236.2	-	4	2724	c.2107G>C	c.(2107-2109)Gcc>Ccc	p.A703P	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcagaaaaggcatgtcttttc	0.328																																						uc003nlo.2		NA																	0				ovary(1)	1						c.(2107-2109)GCC>CCC		SCAN domain containing 3							30.0	29.0	29.0					6																	28541559		2196	4283	6479	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541559C>G																												ENST00000452236.2:c.2107G>C	6.37:g.28541559C>G	ENSP00000395259:p.Ala703Pro						p.A703P	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			4	2725	-			703						Missense_Mutation	SNP	ENST00000452236.2	37	c.2107G>C	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	0.272	-0.992441	0.02162	.	.	ENSG00000232040	ENST00000452236	T	0.01560	4.77	2.4	-0.119	0.13543	.	.	.	.	.	T	0.00241	0.0007	N	0.02011	-0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.36744	-0.9735	9	0.27785	T	0.31	.	2.5337	0.04709	0.0:0.1813:0.288:0.5307	.	703	Q6R2W3	SCND3_HUMAN	P	703	ENSP00000395259:A703P	ENSP00000395259:A703P	A	-	1	0	SCAND3	28649538	0.149000	0.22717	0.276000	0.24689	0.531000	0.34715	0.001000	0.13038	-0.033000	0.13736	-0.471000	0.05019	GCC		0.328	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			2	9	0	0	0	0	2	9				
OR2H2	7932	broad.mit.edu	37	6	29555789	29555789	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:29555789G>A	ENST00000383640.2	+	1	107	c.68G>A	c.(67-69)aGg>aAg	p.R23K	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	23					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GGGCTGGAAAGGACTCTCTTC	0.557																																						uc003nmr.1		NA																	0					0						c.(67-69)AGG>AAG		olfactory receptor, family 2, subfamily H,							192.0	190.0	190.0					6																	29555789		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29555789G>A		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.68G>A	6.37:g.29555789G>A	ENSP00000373136:p.Arg23Lys					GABBR1_uc003nmp.3_Intron	p.R23K	NM_007160	NP_009091	O95918	OR2H2_HUMAN			1	107	+			23			Extracellular (Potential).		Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.68G>A	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.178287	0.00308	.	.	ENSG00000204657	ENST00000383640	T	0.00342	8.03	4.32	-3.47	0.04753	.	0.579796	0.14551	N	0.312667	T	0.00039	0.0001	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06481	-1.0824	10	0.23302	T	0.38	.	4.8508	0.13537	0.255:0.0:0.4804:0.2646	.	23	O95918	OR2H2_HUMAN	K	23	ENSP00000373136:R23K	ENSP00000373136:R23K	R	+	2	0	OR2H2	29663768	0.000000	0.05858	0.132000	0.22025	0.036000	0.12997	0.028000	0.13644	-0.873000	0.04032	-0.482000	0.04802	AGG		0.557	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			52	150	0	0	0	0	52	150				
DDX39B	7919	broad.mit.edu	37	6	31504459	31504459	+	Splice_Site	SNP	A	A	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:31504459A>C	ENST00000396172.1	-	5	1064	c.434T>G	c.(433-435)gTt>gGt	p.V145G	DDX39B_ENST00000449074.2_3'UTR|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000415382.2_Splice_Site_p.V67G|DDX39B_ENST00000417556.2_Splice_Site_p.V160G|DDX39B_ENST00000376177.2_Splice_Site_p.V145G|DDX39B_ENST00000453105.2_Splice_Site_p.V98G|DDX39B_ENST00000458640.1_Splice_Site_p.V145G	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	145	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AAAAACAGCAACCTGCCGAGC	0.498																																						uc003ntt.2		NA																	0					0						c.(433-435)GTT>GGT		HLA-B associated transcript 1																																				SO:0001630	splice_region_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31504459A>C	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.433-1T>G	6.37:g.31504459A>C						BAT1_uc003ntr.2_5'Flank|BAT1_uc003nts.2_Missense_Mutation_p.V145G|BAT1_uc011dnn.1_Missense_Mutation_p.V67G|BAT1_uc003ntu.2_Missense_Mutation_p.V145G|BAT1_uc003ntv.2_Missense_Mutation_p.V145G|BAT1_uc003ntw.2_Missense_Mutation_p.V145G|BAT1_uc003ntx.2_Missense_Mutation_p.V145G|BAT1_uc011dno.1_Missense_Mutation_p.V98G|BAT1_uc011dnp.1_Missense_Mutation_p.V67G|SNORD117_uc003nty.1_5'Flank|BAT1_uc011dnq.1_RNA	p.V145G	NM_004640	NP_004631	Q13838	DX39B_HUMAN			5	1065	-			145			Helicase ATP-binding.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.434T>G	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.979046	0.92982	.	.	ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908;ENST00000427214;ENST00000453105;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000428450;ENST00000449757	T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;3.23;3.23;3.23;3.23;3.23;0.65;2.21;0.65;0.65;2.21;0.65;0.65	5.22	5.22	0.72569	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.57888	0.2084	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;P	0.71674	0.998;0.994;0.996;0.98;0.976;0.933	D;P;D;P;D;P	0.73380	0.951;0.846;0.98;0.735;0.909;0.793	T	0.63791	-0.6557	10	0.72032	D	0.01	-17.934	13.3208	0.60432	1.0:0.0:0.0:0.0	.	67;98;67;165;145;145	B4DIZ8;B4DIJ6;B4DP52;Q59G92;Q13838;Q5STU3	.;.;.;.;DX39B_HUMAN;.	G	145;145;145;160;67;67;145;98;145;145;145;173;168	ENSP00000365347:V145G;ENSP00000416269:V145G;ENSP00000379475:V145G;ENSP00000412582:V160G;ENSP00000392669:V67G;ENSP00000408000:V67G;ENSP00000399371:V145G;ENSP00000400328:V98G;ENSP00000392672:V145G;ENSP00000410313:V145G;ENSP00000416350:V145G;ENSP00000405707:V173G;ENSP00000409426:V168G	ENSP00000365347:V145G	V	-	2	0	DDX39B	31612438	1.000000	0.71417	0.969000	0.41365	0.704000	0.40688	4.382000	0.59594	2.085000	0.62840	0.528000	0.53228	GTT		0.498	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640	Missense_Mutation	8	50	0	0	0	0	8	50				
PRIM2	5558	broad.mit.edu	37	6	57512605	57512605	+	3'UTR	SNP	A	A	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:57512605A>C	ENST00000389488.2	+	0	1520				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CCAAGTGTCCAGAAAACCAAG	0.398																																						uc003pdx.2		NA																	0					0						c.(1432-1434)CAG>CCG		DNA primase polypeptide 2							409.0	389.0	395.0					6																	57512605		1959	4151	6110	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512605A>C		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1517A>C	6.37:g.57512605A>C							p.Q478P	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1520	+			478					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	ENST00000389488.2	37	c.1433A>C																																																																																					0.398	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		44	429	0	0	0	0	44	429				
KHDRBS2	202559	broad.mit.edu	37	6	62604557	62604557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:62604557C>A	ENST00000281156.4	-	6	1071	c.793G>T	c.(793-795)Gaa>Taa	p.E265*		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCATAAGCTTCATGGGCTGGA	0.478																																						uc003peg.2		NA																	0				skin(7)|ovary(3)|liver(1)	11						c.(793-795)GAA>TAA		KH domain-containing, RNA-binding, signal							76.0	77.0	77.0					6																	62604557		2203	4300	6503	SO:0001587	stop_gained	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604557C>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.793G>T	6.37:g.62604557C>A	ENSP00000281156:p.Glu265*						p.E265*	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	6	1040	-			265					A8K7M8|Q8N4I4|Q8TCZ4	Nonsense_Mutation	SNP	ENST00000281156.4	37	c.793G>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	39	7.287697	0.98189	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	.	.	.	5.82	4.95	0.65309	.	0.157403	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-5.2387	14.9327	0.70929	0.0:0.9314:0.0:0.0686	.	.	.	.	X	265	.	ENSP00000281156:E265X	E	-	1	0	KHDRBS2	62662516	0.980000	0.34600	0.161000	0.22692	0.961000	0.63080	2.646000	0.46630	1.457000	0.47850	0.655000	0.94253	GAA		0.478	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		19	63	1	0	6.45e-10	1.33e-09	19	63				
IRAK1BP1	134728	broad.mit.edu	37	6	79607895	79607895	+	Silent	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:79607895A>G	ENST00000369940.2	+	4	732	c.627A>G	c.(625-627)aaA>aaG	p.K209K	IRAK1BP1_ENST00000607739.1_Silent_p.K122K	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	209					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AAGAAACAAAAGAATGGGAAG	0.388																																						uc003pim.2		NA																	0					0						c.(625-627)AAA>AAG		interleukin-1 receptor-associated kinase 1							84.0	80.0	81.0					6																	79607895		2202	4300	6502	SO:0001819	synonymous_variant	134728				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr6:79607895A>G	AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.627A>G	6.37:g.79607895A>G						IRAK1BP1_uc010kbg.1_Intron|IRAK1BP1_uc003pin.2_Silent_p.K122K	p.K209K	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.21)	4	732	+		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)	209						Silent	SNP	ENST00000369940.2	37	c.627A>G	CCDS34488.1																																																																																				0.388	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041296.2	XM_059729		10	18	0	0	0	0	10	18				
DOPEY1	23033	broad.mit.edu	37	6	83838721	83838721	+	Missense_Mutation	SNP	G	G	T	rs562390207		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:83838721G>T	ENST00000349129.2	+	16	2095	c.1835G>T	c.(1834-1836)cGa>cTa	p.R612L	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R603L|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R593L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	612					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAAGCAGACCGAACTGATGAT	0.458																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1834-1836)CGA>CTA		dopey family member 1							121.0	126.0	124.0					6																	83838721		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83838721G>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1835G>T	6.37:g.83838721G>T	ENSP00000195654:p.Arg612Leu					DOPEY1_uc011dyy.1_Missense_Mutation_p.R603L|DOPEY1_uc010kbl.1_Missense_Mutation_p.R603L	p.R612L	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	16	2095	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	612					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.1835G>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186775	0.38609	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.23147	1.92;1.93	5.66	4.68	0.58851	.	0.581929	0.14628	N	0.308013	T	0.09158	0.0226	L	0.34521	1.04	0.80722	D	1	B;B;B	0.29988	0.264;0.062;0.062	B;B;B	0.28916	0.096;0.025;0.025	T	0.08207	-1.0733	10	0.35671	T	0.21	.	7.5998	0.28069	0.1164:0.2304:0.6532:0.0	.	503;603;612	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	L	612;593;593	ENSP00000195654:R612L;ENSP00000237163:R593L	ENSP00000237163:R593L	R	+	2	0	DOPEY1	83895440	0.952000	0.32445	1.000000	0.80357	0.940000	0.58332	2.129000	0.42055	2.663000	0.90544	0.655000	0.94253	CGA		0.458	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		39	110	1	0	5.45e-19	1.14e-18	39	110				
ASCC3	10973	broad.mit.edu	37	6	101054640	101054640	+	Missense_Mutation	SNP	G	G	A	rs112466876		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:101054640G>A	ENST00000369162.2	-	32	5364	c.5020C>T	c.(5020-5022)Cgt>Tgt	p.R1674C		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1674	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCCACATAACGTCTTGTTTTT	0.308																																						uc003pqk.2		NA																	0				ovary(5)|skin(1)	6						c.(5020-5022)CGT>TGT		activating signal cointegrator 1 complex subunit							48.0	57.0	54.0					6																	101054640		2201	4292	6493	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101054640G>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5020C>T	6.37:g.101054640G>A	ENSP00000358159:p.Arg1674Cys						p.R1674C	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	32	5349	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1674			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.5020C>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231952	0.79688	.	.	ENSG00000112249	ENST00000369162	T	0.44482	0.92	5.92	5.92	0.95590	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.68686	0.3028	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73421	-0.3988	10	0.87932	D	0	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	1674	Q8N3C0	HELC1_HUMAN	C	1674	ENSP00000358159:R1674C	ENSP00000358159:R1674C	R	-	1	0	ASCC3	101161361	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.694000	0.84235	2.810000	0.96702	0.585000	0.79938	CGT		0.308	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		23	63	0	0	0	0	23	63				
MTFR2	113115	broad.mit.edu	37	6	136562633	136562633	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr6:136562633G>C	ENST00000420702.1	-	5	852	c.463C>G	c.(463-465)Cag>Gag	p.Q155E	MTFR2_ENST00000451457.2_Missense_Mutation_p.Q155E	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	155					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											GCTGCAATCTGAGAGCGAAGA	0.353																																						uc010kgp.1		NA																	0				skin(1)	1						c.(463-465)CAG>GAG		DUF729 domain containing 1							99.0	91.0	94.0					6																	136562633		2203	4300	6503	SO:0001583	missense	113115							g.chr6:136562633G>C	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.463C>G	6.37:g.136562633G>C	ENSP00000395232:p.Gln155Glu					FAM54A_uc003qgt.1_Missense_Mutation_p.Q155E|FAM54A_uc003qgu.1_Missense_Mutation_p.Q112E	p.Q155E	NM_001099286	NP_001092756	Q6P444	FA54A_HUMAN		GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)	5	853	-	Colorectal(23;0.24)		155					A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	c.463C>G	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293848	0.80914	.	.	ENSG00000146410	ENST00000451457;ENST00000420702;ENST00000418509	T;T;T	0.69926	-0.44;-0.44;-0.44	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.87547	2.89	0.50813	D	0.999892	D	0.89917	1.0	D	0.87578	0.998	D	0.85239	0.1037	10	0.87932	D	0	-12.3202	18.3639	0.90384	0.0:0.0:1.0:0.0	.	155	Q6P444	FA54A_HUMAN	E	155;155;112	ENSP00000407010:Q155E;ENSP00000395232:Q155E;ENSP00000410861:Q112E	ENSP00000410861:Q112E	Q	-	1	0	FAM54A	136604326	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.445000	0.73456	2.640000	0.89533	0.462000	0.41574	CAG		0.353	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2	NM_138419		5	40	0	0	0	0	5	40				
FERD3L	222894	broad.mit.edu	37	7	19184751	19184751	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:19184751C>T	ENST00000275461.3	-	1	293	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	79	Poly-Glu.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						cgctcctcttcctcctcctct	0.622																																						uc003suo.1		NA																	0				large_intestine(1)	1						c.(235-237)GAA>AAA		nephew of atonal 3							71.0	52.0	59.0					7																	19184751		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184751C>T	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.235G>A	7.37:g.19184751C>T	ENSP00000275461:p.Glu79Lys					uc003sun.1_RNA	p.E79K	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	294	-			79			Poly-Glu.		Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.235G>A	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920945	0.52653	.	.	ENSG00000146618	ENST00000275461	D	0.96619	-4.07	5.2	5.2	0.72013	.	1.876250	0.02506	N	0.091015	D	0.93304	0.7866	N	0.24115	0.695	0.38049	D	0.935718	P	0.39665	0.682	B	0.37650	0.255	T	0.77867	-0.2428	10	0.06891	T	0.86	-1.7939	16.9005	0.86112	0.0:1.0:0.0:0.0	.	79	Q96RJ6	FER3L_HUMAN	K	79	ENSP00000275461:E79K	ENSP00000275461:E79K	E	-	1	0	FERD3L	19151276	0.472000	0.25870	0.997000	0.53966	0.978000	0.69477	3.074000	0.50065	2.451000	0.82905	0.650000	0.86243	GAA		0.622	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			11	19	0	0	0	0	11	19				
BBS9	27241	broad.mit.edu	37	7	33573768	33573768	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:33573768C>T	ENST00000242067.6	+	21	3022	c.2501C>T	c.(2500-2502)cCa>cTa	p.P834L	BBS9_ENST00000354265.4_Missense_Mutation_p.P799L|BBS9_ENST00000396127.2_Missense_Mutation_p.P799L|BBS9_ENST00000350941.3_Missense_Mutation_p.P794L|BBS9_ENST00000355070.2_Missense_Mutation_p.P829L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	834					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCAGCAGCCCCACAGACCATG	0.478									Bardet-Biedl syndrome																													uc003tdn.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(2500-2502)CCA>CTA		parathyroid hormone-responsive B1 isoform 2							84.0	62.0	69.0					7																	33573768		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33573768C>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2501C>T	7.37:g.33573768C>T	ENSP00000242067:p.Pro834Leu					BBS9_uc003tdo.1_Missense_Mutation_p.P799L|BBS9_uc003tdp.1_Missense_Mutation_p.P829L|BBS9_uc003tdq.1_Missense_Mutation_p.P794L|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.P358L|BBS9_uc003tds.1_Missense_Mutation_p.P257L|BBS9_uc003tdt.2_RNA	p.P834L	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		21	3014	+			834					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.2501C>T	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360035	0.61403	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	5.93	4.98	0.66077	.	0.071134	0.56097	D	0.000030	T	0.52370	0.1730	L	0.29908	0.895	0.80722	D	1	P;P;P;P;P	0.47762	0.835;0.9;0.835;0.9;0.835	P;B;P;B;P	0.48400	0.576;0.39;0.576;0.39;0.576	T	0.55373	-0.8151	10	0.72032	D	0.01	-15.0449	11.6789	0.51446	0.3787:0.6213:0.0:0.0	.	834;794;829;799;834	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	L	834;794;799;829;799;834	ENSP00000242067:P834L;ENSP00000313122:P794L;ENSP00000379433:P799L;ENSP00000347182:P829L;ENSP00000346214:P799L	ENSP00000242067:P834L	P	+	2	0	BBS9	33540293	0.865000	0.29922	0.308000	0.25141	0.569000	0.35902	2.157000	0.42320	2.826000	0.97356	0.655000	0.94253	CCA		0.478	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			11	40	0	0	0	0	11	40				
IKZF1	10320	broad.mit.edu	37	7	50467751	50467751	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:50467751C>T	ENST00000331340.3	+	8	1141	c.986C>T	c.(985-987)cCg>cTg	p.P329L	IKZF1_ENST00000439701.1_Missense_Mutation_p.P287L|IKZF1_ENST00000346667.4_Missense_Mutation_p.P99L|IKZF1_ENST00000357364.4_Missense_Mutation_p.P242L|IKZF1_ENST00000349824.4_Missense_Mutation_p.P186L|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.P287L|IKZF1_ENST00000343574.5_Missense_Mutation_p.P242L|IKZF1_ENST00000438033.1_Missense_Mutation_p.P242L	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	329					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCCCTGCGCCCGCTGGTGCAG	0.652			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	uc003tow.3		NA		"""Rec,Dom"""	yes		7	7p12.2	10320	D	IKAROS family zinc finger 1			L			ALL		28	Unknown(28)		haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(147)|lung(1)	148						c.(985-987)CCG>CTG		zinc finger protein, subfamily 1A, 1 (Ikaros)							17.0	20.0	19.0					7																	50467751		2065	4223	6288	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467751C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.986C>T	7.37:g.50467751C>T	ENSP00000331614:p.Pro329Leu					IKZF1_uc003tox.3_Missense_Mutation_p.P287L|IKZF1_uc003toy.3_Missense_Mutation_p.P287L|IKZF1_uc011kck.1_Missense_Mutation_p.P242L|IKZF1_uc003toz.3_Missense_Mutation_p.P299L|IKZF1_uc010kyx.2_Missense_Mutation_p.P69L|IKZF1_uc003tpa.3_Missense_Mutation_p.P71L	p.P329L	NM_006060	NP_006051	Q13422	IKZF1_HUMAN			9	1154	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	329					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.986C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.313135	0.95655	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.11712	3.91;2.75;3.05;3.79;3.18;2.81;2.75;3.05	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.36193	0.0958	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999	T	0.03503	-1.1030	9	0.52906	T	0.07	-22.0659	19.3925	0.94590	0.0:1.0:0.0:0.0	.	242;99;242;287;329	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	L	99;242;287;186;242;329;242;287	ENSP00000340080:P99L;ENSP00000342750:P242L;ENSP00000352123:P287L;ENSP00000342485:P186L;ENSP00000349928:P242L;ENSP00000331614:P329L;ENSP00000396554:P242L;ENSP00000413025:P287L	ENSP00000331614:P329L	P	+	2	0	IKZF1	50435245	1.000000	0.71417	0.971000	0.41717	0.994000	0.84299	7.757000	0.85209	2.591000	0.87537	0.650000	0.86243	CCG		0.652	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		10	11	0	0	0	0	10	11				
DDC	1644	broad.mit.edu	37	7	50534959	50534959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:50534959C>A	ENST00000444124.2	-	13	1395	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	DDC_ENST00000431062.1_Nonsense_Mutation_p.E306*|DDC_ENST00000426377.1_Nonsense_Mutation_p.E321*|DDC_ENST00000357936.5_Nonsense_Mutation_p.E399*	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	399					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	ACACAGATTTCAAAGCGGGGA	0.448																																						uc003tpf.3		NA																	0				ovary(2)	2						c.(1195-1197)GAA>TAA		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						150.0	151.0	150.0					7																	50534959		2203	4300	6503	SO:0001587	stop_gained	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50534959C>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1195G>T	7.37:g.50534959C>A	ENSP00000403644:p.Glu399*					DDC_uc010kza.2_Nonsense_Mutation_p.E314*|DDC_uc003tpg.3_Nonsense_Mutation_p.E399*	p.E399*	NM_000790	NP_000781	P20711	DDC_HUMAN			13	1281	-	Glioma(55;0.08)|all_neural(89;0.245)		399					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Nonsense_Mutation	SNP	ENST00000444124.2	37	c.1195G>T	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.16|19.16	3.773659|3.773659	0.69992|0.69992	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124|ENST00000430300	.|.	.|.	.|.	5.08|5.08	4.19|4.19	0.49359|0.49359	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.70500	.|0.3231	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70022	.|-0.4986	.|4	0.87932|.	D|.	0|.	-33.171|-33.171	15.1602|15.1602	0.72778|0.72778	0.1424:0.8576:0.0:0.0|0.1424:0.8576:0.0:0.0	.|.	.|.	.|.	.|.	X|F	399;306;321;399|279	.|.	ENSP00000350616:E399X|.	E|L	-|-	1|3	0|2	DDC|DDC	50502453|50502453	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.085000|0.085000	0.17905|0.17905	5.546000|5.546000	0.67243|0.67243	1.239000|1.239000	0.43787|0.43787	-0.181000|-0.181000	0.13052|0.13052	GAA|TTG		0.448	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			42	126	1	0	6.53e-18	1.37e-17	42	126				
ZNF679	168417	broad.mit.edu	37	7	63720697	63720697	+	Silent	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:63720697A>G	ENST00000421025.1	+	3	407	c.138A>G	c.(136-138)ttA>ttG	p.L46L	ZNF679_ENST00000255746.4_Silent_p.L46L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGTGATGTTAGAGAACTACA	0.378																																						uc003tsx.2		NA																	0				skin(1)	1						c.(136-138)TTA>TTG		zinc finger protein 679							47.0	42.0	44.0					7																	63720697		692	1591	2283	SO:0001819	synonymous_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63720697A>G	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.138A>G	7.37:g.63720697A>G							p.L46L	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			3	407	+			46			KRAB.			Silent	SNP	ENST00000421025.1	37	c.138A>G	CCDS47592.1																																																																																				0.378	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		3	74	0	0	0	0	3	74				
ZAN	7455	broad.mit.edu	37	7	100349865	100349865	+	RNA	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:100349865T>C	ENST00000348028.3	+	0	2302				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCCCAGAAAA	0.502																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2137-2139)TCC>CCC		zonadhesin isoform 3							169.0	188.0	183.0					7																	100349865		1832	4081	5913			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349865T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349865T>C						ZAN_uc003uwk.2_Missense_Mutation_p.S713P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.S713P	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2302	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		713			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.2137T>C		.	.	.	.	.	.	.	.	.	.	t	6.727	0.502929	0.12822	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63255	-0.03;-0.03;-0.03	3.09	-4.12	0.03916	.	.	.	.	.	T	0.23766	0.0575	N	0.00771	-1.2	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13255	-1.0516	9	0.33940	T	0.23	.	4.1454	0.10214	0.2418:0.2807:0.0:0.4775	.	713;713	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	713	ENSP00000445943:S713P;ENSP00000445091:S713P;ENSP00000444427:S713P	ENSP00000423579:S713P	S	+	1	0	ZAN	100187801	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.082000	0.00613	-1.056000	0.03205	-1.117000	0.02048	TCC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		5	111	0	0	0	0	5	111				
LAMB1	3912	broad.mit.edu	37	7	107613482	107613482	+	Missense_Mutation	SNP	C	C	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:107613482C>A	ENST00000222399.6	-	13	1747	c.1517G>T	c.(1516-1518)gGa>gTa	p.G506V	LAMB1_ENST00000393561.1_Missense_Mutation_p.G530V|LAMB1_ENST00000393560.1_Missense_Mutation_p.G506V	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	506	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TGGTCGACATCCATCCAAATC	0.458																																						uc003vew.2		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(1516-1518)GGA>GTA		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						225.0	174.0	191.0					7																	107613482		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107613482C>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1517G>T	7.37:g.107613482C>A	ENSP00000222399:p.Gly506Val					LAMB1_uc003vev.2_Missense_Mutation_p.G530V|LAMB1_uc003vex.2_Missense_Mutation_p.G506V|LAMB1_uc010ljn.1_Missense_Mutation_p.G592V	p.G506V	NM_002291	NP_002282	P07942	LAMB1_HUMAN			13	1852	-			506			Laminin EGF-like 4.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.1517G>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368123	0.95900	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.63417	-0.04;-0.04;1.4	6.03	6.03	0.97812	EGF-like, laminin (4);	.	.	.	.	D	0.88548	0.6466	H	0.98629	4.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92010	0.5617	9	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	506;506;530	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	V	530;506;506	ENSP00000377191:G530V;ENSP00000222399:G506V;ENSP00000377190:G506V	ENSP00000222399:G506V	G	-	2	0	LAMB1	107400718	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	GGA		0.458	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		32	56	1	0	2.42e-17	5.03e-17	32	56				
C7orf60	154743	broad.mit.edu	37	7	112472713	112472713	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:112472713C>T	ENST00000297145.4	-	4	656	c.491G>A	c.(490-492)gGa>gAa	p.G164E	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	164							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TCTGATTTTTCCTGAGGCTTG	0.323																																						uc003vgo.1		NA																	0				ovary(2)|skin(1)	3						c.(490-492)GGA>GAA		hypothetical protein LOC154743							91.0	83.0	85.0					7																	112472713		1805	4076	5881	SO:0001583	missense	154743							g.chr7:112472713C>T		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.491G>A	7.37:g.112472713C>T	ENSP00000297145:p.Gly164Glu					C7orf60_uc011kms.1_Missense_Mutation_p.G190E	p.G164E	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			4	618	-			164					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.491G>A	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091617	0.55968	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	L	0.38838	1.175	0.80722	D	1	D;B	0.89917	1.0;0.296	D;B	0.91635	0.999;0.045	T	0.69038	-0.5251	9	0.34782	T	0.22	-12.2516	19.7245	0.96157	0.0:1.0:0.0:0.0	.	111;164	B4DST1;Q1RMZ1	.;CG060_HUMAN	E	164;146;111	.	ENSP00000297145:G164E	G	-	2	0	C7orf60	112259949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.382000	0.59594	2.735000	0.93741	0.561000	0.74099	GGA		0.323	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		6	60	0	0	0	0	6	60				
CA1	759	broad.mit.edu	37	8	86244757	86244757	+	Missense_Mutation	SNP	G	G	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:86244757G>T	ENST00000523953.1	-	7	1521	c.475C>A	c.(475-477)Cag>Aag	p.Q159K	CA1_ENST00000256119.5_Missense_Mutation_p.Q159K|CA1_ENST00000523022.1_Missense_Mutation_p.Q159K|CA1_ENST00000431316.1_Missense_Mutation_p.Q159K|CA1_ENST00000522389.1_Intron|CA1_ENST00000542576.1_Missense_Mutation_p.Q159K|CA1_ENST00000432364.2_Missense_Mutation_p.Q159K|CA1_ENST00000518341.1_5'Flank			P00915	CAH1_HUMAN	carbonic anhydrase I	159					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	AGTACTTTCTGCAGCTTTGGG	0.328																																						uc003ydh.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(475-477)CAG>AAG		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						89.0	82.0	85.0					8																	86244757		2203	4300	6503	SO:0001583	missense	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86244757G>T	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.475C>A	8.37:g.86244757G>T	ENSP00000430656:p.Gln159Lys					CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Missense_Mutation_p.Q159K|CA1_uc003ydi.2_Missense_Mutation_p.Q159K	p.Q159K	NM_001738	NP_001729	P00915	CAH1_HUMAN			7	675	-		all_lung(136;4.89e-06)	159						Missense_Mutation	SNP	ENST00000523953.1	37	c.475C>A	CCDS6237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.875622|2.875622	0.51695|0.51695	.|.	.|.	ENSG00000133742|ENSG00000133742	ENST00000521679|ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000524324;ENST00000517618;ENST00000519991;ENST00000520663;ENST00000517590	.|T;T;T;T;T;T;T;T;T;T;T	.|0.68331	.|-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	4.34|4.34	2.5|2.5	0.30297|0.30297	.|Carbonic anhydrase, alpha-class, catalytic domain (4);	.|0.254989	.|0.41823	.|N	.|0.000815	T|T	0.50017|0.50017	0.1591|0.1591	L|L	0.33189|0.33189	0.99|0.99	0.54753|0.54753	D|D	0.999984|0.999984	.|B	.|0.25390	.|0.125	.|B	.|0.23150	.|0.044	T|T	0.38436|0.38436	-0.9661|-0.9661	5|10	.|0.44086	.|T	.|0.13	-10.1022|-10.1022	6.5389|6.5389	0.22369|0.22369	0.0975:0.0:0.7226:0.1798|0.0975:0.0:0.7226:0.1798	.|.	.|159	.|P00915	.|CAH1_HUMAN	E|K	95|159;159;159;159;159;159;93;159;46;46;159	.|ENSP00000430656:Q159K;ENSP00000256119:Q159K;ENSP00000392338:Q159K;ENSP00000443517:Q159K;ENSP00000401551:Q159K;ENSP00000429798:Q159K;ENSP00000428923:Q93K;ENSP00000430861:Q159K;ENSP00000430543:Q46K;ENSP00000430571:Q46K;ENSP00000429843:Q159K	.|ENSP00000256119:Q159K	A|Q	-|-	2|1	0|0	CA1|CA1	86432009|86432009	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.981000|0.981000	0.71138|0.71138	3.815000|3.815000	0.55651|0.55651	0.431000|0.431000	0.26258|0.26258	0.585000|0.585000	0.79938|0.79938	GCA|CAG		0.328	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		13	31	1	0	7.93e-07	1.62e-06	13	31				
VPS13B	157680	broad.mit.edu	37	8	100147948	100147948	+	Missense_Mutation	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:100147948C>T	ENST00000358544.2	+	11	1661	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	VPS13B_ENST00000357162.2_Missense_Mutation_p.S517L|VPS13B_ENST00000395996.1_Missense_Mutation_p.S517L|VPS13B_ENST00000355155.1_Missense_Mutation_p.S517L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	517					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATCTTGGATTCAACTCATCAT	0.348																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(1549-1551)TCA>TTA		vacuolar protein sorting 13B isoform 5							79.0	72.0	74.0					8																	100147948		2203	4299	6502	SO:0001583	missense	157680				protein transport			g.chr8:100147948C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1550C>T	8.37:g.100147948C>T	ENSP00000351346:p.Ser517Leu					VPS13B_uc003yiw.2_Missense_Mutation_p.S517L|VPS13B_uc003yit.2_Missense_Mutation_p.S517L|VPS13B_uc003yiu.1_Missense_Mutation_p.S517L|VPS13B_uc003yix.1_5'Flank	p.S517L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		11	1661	+	Breast(36;3.73e-07)		517					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1550C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	9.796	1.179164	0.21787	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.75704	-0.96;-0.24;-0.24;0.04	5.36	4.47	0.54385	.	0.283439	0.30177	N	0.010227	T	0.57007	0.2024	N	0.14661	0.345	0.32983	D	0.523973	B;B;B;B	0.19200	0.034;0.02;0.01;0.0	B;B;B;B	0.18561	0.022;0.01;0.022;0.0	T	0.56872	-0.7907	10	0.11182	T	0.66	.	15.5191	0.75851	0.0:0.7385:0.2615:0.0	.	517;517;517;517	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	L	517	ENSP00000347281:S517L;ENSP00000349685:S517L;ENSP00000351346:S517L;ENSP00000379318:S517L	ENSP00000347281:S517L	S	+	2	0	VPS13B	100217124	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.800000	0.47900	1.365000	0.46057	0.655000	0.94253	TCA		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		6	42	0	0	0	0	6	42				
DPYS	1807	broad.mit.edu	37	8	105463606	105463606	+	Missense_Mutation	SNP	C	C	T	rs148513732		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:105463606C>T	ENST00000351513.2	-	2	423	c.291G>A	c.(289-291)atG>atA	p.M97I		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	97					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AATCAATAATCATGGTGGTGC	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18853	0.0		0.0	False		,,,				2504	0.0					uc003yly.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(289-291)ATG>ATA		dihydropyrimidinase							83.0	77.0	79.0					8																	105463606		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105463606C>T	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.291G>A	8.37:g.105463606C>T	ENSP00000276651:p.Met97Ile						p.M97I	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	420	-			97						Missense_Mutation	SNP	ENST00000351513.2	37	c.291G>A	CCDS6302.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	22.8	4.338148	0.81911	.	.	ENSG00000147647	ENST00000351513	D	0.90004	-2.6	5.5	4.61	0.57282	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.94558	0.8247	M	0.93462	3.42	0.58432	D	0.999999	P	0.42409	0.779	P	0.51297	0.665	D	0.95695	0.8744	10	0.72032	D	0.01	-33.6118	16.3013	0.82816	0.0:0.8676:0.1324:0.0	.	97	Q14117	DPYS_HUMAN	I	97	ENSP00000276651:M97I	ENSP00000276651:M97I	M	-	3	0	DPYS	105532782	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	5.616000	0.67709	1.518000	0.48934	0.655000	0.94253	ATG		0.458	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		43	47	0	0	0	0	43	47				
WISP1	8840	broad.mit.edu	37	8	134233036	134233036	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:134233036G>A	ENST00000250160.6	+	3	668	c.562G>A	c.(562-564)Gac>Aac	p.D188N	WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000220856.6_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	188					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGTGAGGACGACGCCAAGAG	0.682																																						uc003yub.2		NA																	0				central_nervous_system(1)|kidney(1)	2						c.(562-564)GAC>AAC		WNT1 inducible signaling pathway protein 1							36.0	34.0	35.0					8																	134233036		2203	4300	6503	SO:0001583	missense	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134233036G>A	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.562G>A	8.37:g.134233036G>A	ENSP00000250160:p.Asp188Asn					WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	p.D188N	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	638	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		188					A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.562G>A	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816913	0.32145	.	.	ENSG00000104415	ENST00000250160	T	0.78481	-1.18	4.46	3.57	0.40892	.	0.803616	0.11878	N	0.520742	T	0.62974	0.2472	N	0.08118	0	0.80722	D	1	D	0.54397	0.966	P	0.44696	0.458	T	0.56980	-0.7889	10	0.24483	T	0.36	-23.6415	13.7492	0.62897	0.0:0.1555:0.8445:0.0	.	188	O95388	WISP1_HUMAN	N	188	ENSP00000250160:D188N	ENSP00000250160:D188N	D	+	1	0	WISP1	134302218	1.000000	0.71417	0.003000	0.11579	0.403000	0.30841	2.483000	0.45233	0.972000	0.38314	0.557000	0.71058	GAC		0.682	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		18	86	0	0	0	0	18	86				
MOB3B	79817	broad.mit.edu	37	9	27455464	27455464	+	Missense_Mutation	SNP	C	C	T	rs377183153		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:27455464C>T	ENST00000262244.5	-	2	509	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	29							metal ion binding (GO:0046872)	p.E29Q(1)									TTGTGCAGCTCAAACCTCTGT	0.552																																						uc003zqn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pleura(1)	2						c.(85-87)GAG>AAG		MOB1, Mps One Binder kinase activator-like 2B							200.0	191.0	194.0					9																	27455464		2203	4300	6503	SO:0001583	missense	79817						metal ion binding|protein binding	g.chr9:27455464C>T	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.85G>A	9.37:g.27455464C>T	ENSP00000262244:p.Glu29Lys						p.E29K	NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)	2	581	-		all_neural(11;9.12e-11)	29					Q8NEB4|Q9H8V4	Missense_Mutation	SNP	ENST00000262244.5	37	c.85G>A	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212071	0.79240	.	.	ENSG00000120162	ENST00000262244	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.66771	0.2823	L	0.61387	1.9	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.60510	-0.7249	9	0.37606	T	0.19	-33.1998	18.8165	0.92079	0.0:1.0:0.0:0.0	.	29	Q86TA1	MOB3B_HUMAN	K	29	.	ENSP00000262244:E29K	E	-	1	0	MOBKL2B	27445464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.788000	0.95919	0.557000	0.71058	GAG		0.552	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		42	159	0	0	0	0	42	159				
NDUFB6	4712	broad.mit.edu	37	9	32558937	32558937	+	Missense_Mutation	SNP	T	T	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:32558937T>C	ENST00000379847.3	-	3	390	c.289A>G	c.(289-291)Ata>Gta	p.I97V	TOPORS-AS1_ENST00000425533.1_RNA|TOPORS-AS1_ENST00000458036.1_RNA|NDUFB6_ENST00000350021.2_Intron	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	97					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		TTTTCAACTATGCCATATGGT	0.313																																						uc003zre.1		NA																	0					0						c.(289-291)ATA>GTA		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						192.0	201.0	198.0					9																	32558937		2203	4300	6503	SO:0001583	missense	4712				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr9:32558937T>C	AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"""Mitochondrial respiratory chain complex / Complex I"""	7701	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase beta subunit, 6"", ""NADH-ubiquinone oxidoreductase B17 subunit"", ""complex I, mitochondrial respiratory chain, B17 subunit"""	603322	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"""			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.289A>G	9.37:g.32558937T>C	ENSP00000369176:p.Ile97Val					NDUFB6_uc003zrf.1_Intron	p.I97V	NM_002493	NP_002484	O95139	NDUB6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	3	413	-			97					A8K0Y7|Q5VYT2|Q6IB84	Missense_Mutation	SNP	ENST00000379847.3	37	c.289A>G	CCDS6528.1	.	.	.	.	.	.	.	.	.	.	T	4.456	0.084431	0.08583	.	.	ENSG00000165264	ENST00000379847	.	.	.	5.58	4.43	0.53597	.	0.105483	0.64402	D	0.000007	T	0.45256	0.1333	L	0.42245	1.32	0.80722	D	1	B	0.15141	0.012	B	0.16722	0.016	T	0.25117	-1.0141	9	0.15499	T	0.54	-37.3224	8.9615	0.35849	0.1648:0.0:0.0:0.8352	.	97	O95139	NDUB6_HUMAN	V	97	.	ENSP00000369176:I97V	I	-	1	0	NDUFB6	32548937	0.549000	0.26481	0.965000	0.40720	0.120000	0.20174	0.411000	0.21115	0.920000	0.36970	0.460000	0.39030	ATA		0.313	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052001.1	NM_002493		32	115	0	0	0	0	32	115				
MELK	9833	broad.mit.edu	37	9	36599430	36599430	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:36599430C>T	ENST00000298048.2	+	7	698	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	MELK_ENST00000536987.1_Silent_p.L41L|MELK_ENST00000538311.1_5'UTR|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000543751.1_Silent_p.L140L|MELK_ENST00000545008.1_Silent_p.L101L|MELK_ENST00000536860.1_Silent_p.L124L|MELK_ENST00000541717.1_Silent_p.L172L|MELK_ENST00000536329.1_Silent_p.L101L	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			CTGTGGGAGTCTGGCTTATGC	0.328																																					Ovarian(82;980 1317 7225 14391 18624)	uc003zzn.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(514-516)CTG>TTG		maternal embryonic leucine zipper kinase							112.0	107.0	109.0					9																	36599430		2203	4300	6503	SO:0001819	synonymous_variant	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36599430C>T	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.514C>T	9.37:g.36599430C>T						MELK_uc011lpm.1_Silent_p.L41L|MELK_uc011lpn.1_Silent_p.L172L|MELK_uc011lpo.1_5'UTR|MELK_uc010mll.2_Silent_p.L140L|MELK_uc011lpp.1_Silent_p.L124L|MELK_uc010mlm.2_Silent_p.L101L|MELK_uc011lpq.1_5'UTR|MELK_uc011lpr.1_Silent_p.L101L|MELK_uc011lps.1_Silent_p.L92L	p.L172L	NM_014791	NP_055606	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		7	652	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	172			Protein kinase.		A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Silent	SNP	ENST00000298048.2	37	c.514C>T	CCDS6606.1																																																																																				0.328	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		14	32	0	0	0	0	14	32				
TMEM252	169693	broad.mit.edu	37	9	71155642	71155642	+	Missense_Mutation	SNP	C	C	G	rs199544319		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:71155642C>G	ENST00000377311.3	-	1	141	c.89G>C	c.(88-90)tGg>tCg	p.W30S	RP11-274B18.2_ENST00000432148.1_lincRNA|RP11-274B18.4_ENST00000413269.3_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	30						integral component of membrane (GO:0016021)											TATGGAGCCCCAGGAAATGAA	0.522																																						uc004agt.2		NA																	0					0						c.(88-90)TGG>TCG		hypothetical protein LOC169693							58.0	58.0	58.0					9																	71155642		2203	4300	6503	SO:0001583	missense	169693					integral to membrane		g.chr9:71155642C>G	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.89G>C	9.37:g.71155642C>G	ENSP00000366528:p.Trp30Ser						p.W30S	NM_153237	NP_694969	Q8N6L7	CI071_HUMAN			1	142	-			30						Missense_Mutation	SNP	ENST00000377311.3	37	c.89G>C	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.400308	0.00195	.	.	ENSG00000181778	ENST00000377311	.	.	.	5.65	2.37	0.29283	.	0.826364	0.10987	N	0.612063	T	0.07458	0.0188	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30387	-0.9980	9	0.07482	T	0.82	-1.6817	9.3742	0.38272	0.1598:0.1304:0.7097:0.0	.	30	Q8N6L7	CI071_HUMAN	S	30	.	ENSP00000366528:W30S	W	-	2	0	C9orf71	70345462	0.602000	0.26916	0.042000	0.18584	0.002000	0.02628	1.160000	0.31761	0.747000	0.32809	-0.165000	0.13383	TGG		0.522	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		20	42	0	0	0	0	20	42				
APBA1	320	broad.mit.edu	37	9	72131514	72131514	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:72131514G>A	ENST00000265381.4	-	2	835	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	205					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCCAGCTCGGGCGCGTCCCCT	0.716																																						uc004ahh.2		NA																	0				lung(1)	1						c.(613-615)CCC>TCC		amyloid beta A4 precursor protein-binding,							21.0	22.0	22.0					9																	72131514		2199	4296	6495	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131514G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.613C>T	9.37:g.72131514G>A	ENSP00000265381:p.Pro205Ser						p.P205S	NM_001163	NP_001154	Q02410	APBA1_HUMAN			2	889	-			205					O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.613C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248788	0.39797	.	.	ENSG00000107282	ENST00000265381	T	0.05855	3.38	5.26	4.31	0.51392	.	0.059742	0.64402	D	0.000002	T	0.06280	0.0162	N	0.24115	0.695	0.52501	D	0.999952	B	0.09022	0.002	B	0.10450	0.005	T	0.34750	-0.9816	10	0.51188	T	0.08	.	16.4877	0.84189	0.0:0.1307:0.8693:0.0	.	205	Q02410	APBA1_HUMAN	S	205	ENSP00000265381:P205S	ENSP00000265381:P205S	P	-	1	0	APBA1	71321334	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.510000	0.60455	2.634000	0.89283	0.561000	0.74099	CCC		0.716	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		7	28	0	0	0	0	7	28				
LPAR1	1902	broad.mit.edu	37	9	113637831	113637831	+	Missense_Mutation	SNP	A	A	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:113637831A>G	ENST00000374431.3	-	5	1348	c.965T>C	c.(964-966)tTt>tCt	p.F322S	LPAR1_ENST00000358883.4_Missense_Mutation_p.F322S|LPAR1_ENST00000374430.2_Missense_Mutation_p.F322S|LPAR1_ENST00000541779.1_Missense_Mutation_p.F323S|LPAR1_ENST00000538760.1_Missense_Mutation_p.F323S	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	322					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GATCTGCCTAAAGGTGGCGCT	0.552																																					NSCLC(115;661 2323 9836 34256)	uc004bfa.2		NA																	0				ovary(2)	2						c.(964-966)TTT>TCT		lysophosphatidic acid receptor 1							178.0	173.0	174.0					9																	113637831		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113637831A>G	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.965T>C	9.37:g.113637831A>G	ENSP00000363553:p.Phe322Ser					LPAR1_uc011lwm.1_Missense_Mutation_p.F323S|LPAR1_uc004bfb.2_Missense_Mutation_p.F322S|LPAR1_uc004bfc.2_Missense_Mutation_p.F322S|LPAR1_uc011lwn.1_Missense_Mutation_p.F304S|LPAR1_uc011lwo.1_Missense_Mutation_p.F323S|LPAR1_uc010mub.2_Missense_Mutation_p.F322S	p.F322S	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			5	1220	-			322			Cytoplasmic (Potential).		B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.965T>C	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.629637	0.87660	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	6.06	6.06	0.98353	.	0.051342	0.85682	D	0.000000	T	0.52306	0.1726	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.996;0.996;0.998	D;D;D	0.70487	0.969;0.969;0.969	T	0.56147	-0.8027	10	0.87932	D	0	.	15.7905	0.78357	1.0:0.0:0.0:0.0	.	323;323;322	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	S	322;323;322;322;304;323	ENSP00000363553:F322S;ENSP00000445697:F323S;ENSP00000363552:F322S;ENSP00000351755:F322S;ENSP00000440201:F323S	ENSP00000351755:F322S	F	-	2	0	LPAR1	112677652	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.305000	0.96197	2.324000	0.78689	0.533000	0.62120	TTT		0.552	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		4	141	0	0	0	0	4	141				
HSPA5	3309	broad.mit.edu	37	9	128003180	128003180	+	Silent	SNP	G	G	C	rs368045596		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:128003180G>C	ENST00000324460.6	-	2	332	c.129C>G	c.(127-129)ggC>ggG	p.G43G	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	43					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TCTTGAACACGCCGACGCTGG	0.632										Prostate(1;0.17)																												uc004bpn.2		NA																	0				ovary(3)|skin(1)	4						c.(127-129)GGC>GGG		heat shock 70kDa protein 5	Antihemophilic Factor(DB00025)						66.0	72.0	70.0					9																	128003180		2203	4300	6503	SO:0001819	synonymous_variant	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128003180G>C		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.129C>G	9.37:g.128003180G>C		Prostate(1;0.17)					p.G43G	NM_005347	NP_005338	P11021	GRP78_HUMAN			2	385	-			43					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Silent	SNP	ENST00000324460.6	37	c.129C>G	CCDS6863.1																																																																																				0.632	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			9	114	0	0	0	0	9	114				
ODF2	4957	broad.mit.edu	37	9	131221882	131221882	+	Silent	SNP	C	C	T			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:131221882C>T	ENST00000434106.3	+	3	432	c.69C>T	c.(67-69)ctC>ctT	p.L23L	ODF2_ENST00000604420.1_Silent_p.L23L|ODF2_ENST00000351030.3_5'UTR|ODF2_ENST00000448249.3_5'UTR|ODF2_ENST00000372814.3_Silent_p.L67L|ODF2_ENST00000546203.1_Silent_p.L23L|ODF2_ENST00000444119.2_5'Flank|ODF2_ENST00000535026.1_5'UTR|ODF2_ENST00000372807.5_5'Flank|ODF2_ENST00000393533.2_Silent_p.L23L|ODF2_ENST00000393527.3_5'UTR|ODF2_ENST00000372791.3_Silent_p.L23L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	23					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TAACGAGTCTCACGCAGAAAA	0.493																																						uc011mbd.1		NA																	0				ovary(1)	1						c.(67-69)CTC>CTT		outer dense fiber of sperm tails 2 isoform 1							152.0	124.0	134.0					9																	131221882		2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131221882C>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.69C>T	9.37:g.131221882C>T						ODF2_uc011maz.1_Silent_p.L23L|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_5'UTR|ODF2_uc011mbb.1_5'UTR|ODF2_uc011mbc.1_5'UTR|ODF2_uc004bva.2_5'UTR|ODF2_uc004bvb.2_5'UTR|ODF2_uc011mbe.1_5'UTR|ODF2_uc004bvc.2_5'UTR|ODF2_uc010myc.2_Silent_p.L23L|ODF2_uc011mbf.1_Silent_p.L23L|ODF2_uc004bvd.3_Silent_p.L23L|ODF2_uc004bve.2_Silent_p.L23L	p.L23L	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			3	380	+			23					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.69C>T	CCDS56588.1																																																																																				0.493	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			9	22	0	0	0	0	9	22				
PRRC2B	84726	broad.mit.edu	37	9	134308054	134308054	+	Missense_Mutation	SNP	C	C	T	rs369955852		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:134308054C>T	ENST00000357304.4	+	2	221	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	PRRC2B_ENST00000458550.1_Missense_Mutation_p.R56C|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R56C	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	56							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGCAGCCCGGCGCATGCCACC	0.527																																						uc004can.3		NA																	0					0						c.(166-168)CGC>TGC		HLA-B associated transcript 2-like		C	CYS/ARG	0,3910		0,0,1955	62.0	69.0	67.0		166	6.2	1.0	9		67	1,8331		0,1,4165	no	missense	PRRC2B	NM_013318.3	180	0,1,6120	TT,TC,CC		0.012,0.0,0.0082	probably-damaging	56/2230	134308054	1,12241	1955	4166	6121	SO:0001583	missense	84726						protein binding	g.chr9:134308054C>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.166C>T	9.37:g.134308054C>T	ENSP00000349856:p.Arg56Cys					BAT2L1_uc004cam.1_Missense_Mutation_p.R56C	p.R56C	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			2	221	+			56					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.166C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	35	5.472023	0.96274	0.0	1.2E-4	ENSG00000130723	ENST00000405995;ENST00000541684;ENST00000357304;ENST00000458550	T;T;T	0.52526	0.66;0.66;0.66	6.17	6.17	0.99709	BAT2, N-terminal (1);	0.000000	0.40469	U	0.001094	T	0.73713	0.3622	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75190	-0.3405	10	0.87932	D	0	-6.4768	19.8676	0.96824	0.0:1.0:0.0:0.0	.	56	Q5JSZ5	PRC2B_HUMAN	C	56	ENSP00000384606:R56C;ENSP00000349856:R56C;ENSP00000398853:R56C	ENSP00000349856:R56C	R	+	1	0	PRRC2B	133297875	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGC		0.527	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				34	33	0	0	0	0	34	33				
SURF4	6836	broad.mit.edu	37	9	136234196	136234196	+	Silent	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:136234196G>A	ENST00000371989.3	-	2	303	c.174C>T	c.(172-174)acC>acT	p.T58T	SURF4_ENST00000485435.2_Silent_p.T58T|SURF4_ENST00000371991.3_Silent_p.T58T|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_Silent_p.T58T	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	58					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGCAGTTCCAGGTGGTGTCGA	0.617																																						uc004cdj.2		NA																	0					0						c.(172-174)ACC>ACT		surfeit 4							112.0	89.0	96.0					9																	136234196		2203	4300	6503	SO:0001819	synonymous_variant	6836					endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding	g.chr9:136234196G>A		CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.174C>T	9.37:g.136234196G>A						SURF4_uc011mda.1_Silent_p.T49T|SURF4_uc010nal.2_Silent_p.T90T|SURF4_uc011mdb.1_Silent_p.T15T|SURF4_uc011mdc.1_Silent_p.T15T|SURF4_uc011mdd.1_Silent_p.T58T	p.T58T	NM_033161	NP_149351	O15260	SURF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)	2	304	-			58					B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	c.174C>T	CCDS6968.1																																																																																				0.617	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	NM_033161		25	64	0	0	0	0	25	64				
ZCCHC18	644353	broad.mit.edu	37	X	103359010	103359010	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chrX:103359010G>C	ENST00000537356.3	+	2	1622	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	ZCCHC18_ENST00000422784.1_Intron|SLC25A53_ENST00000357421.4_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18	70							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										CCAAGTCAATGAGGTCCTGCC	0.502																																						uc011msh.1		NA																	0					0						c.(208-210)GAG>CAG		zinc finger, CCHC domain containing 18							71.0	58.0	62.0					X																	103359010		692	1591	2283	SO:0001583	missense	644353						nucleic acid binding|zinc ion binding	g.chrX:103359010G>C	AF086548	CCDS65304.1	Xq22.2	2013-01-31	2009-02-03		ENSG00000166707	ENSG00000166707		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	32459	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7B"""		"""zinc finger, CCHC domain containing 12 pseudogene 1"""				Standard	NM_001143978		Approved	SIZN2, PNMA7B	uc011msh.2	P0CG32	OTTHUMG00000022123	ENST00000537356.3:c.208G>C	X.37:g.103359010G>C	ENSP00000473824:p.Glu70Gln					MCART6_uc004elu.2_Intron|ZCCHC18_uc011msg.1_Intron	p.E70Q	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN			3	1524	+			70						Missense_Mutation	SNP	ENST00000537356.3	37	c.208G>C																																																																																					0.502	ZCCHC18-006	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471686.1	NM_001143978		7	8	0	0	0	0	7	8				
PSMD10	5716	broad.mit.edu	37	X	107331314	107331314	+	Missense_Mutation	SNP	G	G	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chrX:107331314G>A	ENST00000217958.3	-	3	326	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F	PSMD10_ENST00000372295.1_Intron|PSMD10_ENST00000340200.5_Missense_Mutation_p.L44F|PSMD10_ENST00000361815.5_Missense_Mutation_p.L77F|PSMD10_ENST00000372296.1_Intron	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	77	Interaction with RELA.				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)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|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 DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell growth (GO:0030307)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCAATATGAAGAGGAGACCAA	0.453																																						uc004enp.1		NA																	0				ovary(1)	1						c.(229-231)CTT>TTT		proteasome 26S non-ATPase subunit 10 isoform 1							54.0	58.0	57.0					X																	107331314		2203	4299	6502	SO:0001583	missense	5716				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|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 apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding	g.chrX:107331314G>A	AB009619	CCDS14536.1, CCDS14537.1	Xq22.3	2013-01-10			ENSG00000101843	ENSG00000101843		"""Proteasome (prosome, macropain) subunits"", ""Ankyrin repeat domain containing"""	9555	protein-coding gene	gene with protein product	"""gankyrin"""	300880				9714768	Standard	NM_002814		Approved	p28	uc004enp.2	O75832	OTTHUMG00000022177	ENST00000217958.3:c.229C>T	X.37:g.107331314G>A	ENSP00000217958:p.Leu77Phe					PSMD10_uc004enq.1_Missense_Mutation_p.L77F|PSMD10_uc010nph.1_Intron	p.L77F	NM_002814	NP_002805	O75832	PSD10_HUMAN			3	327	-			77			Interaction with RELA.|ANK 3.		Q5U0B2|Q8IZK9	Missense_Mutation	SNP	ENST00000217958.3	37	c.229C>T	CCDS14536.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606744	0.46527	.	.	ENSG00000101843	ENST00000217958;ENST00000361815;ENST00000340200	D;D;T	0.84370	-1.56;-1.84;-0.56	5.06	4.19	0.49359	Ankyrin repeat-containing domain (3);	0.074734	0.48286	D	0.000190	D	0.88485	0.6449	M	0.90814	3.15	0.80722	D	1	B;B	0.32862	0.387;0.179	B;B	0.40940	0.344;0.161	D	0.87499	0.2432	10	0.59425	D	0.04	-2.2151	8.6042	0.33762	0.2495:0.0:0.7505:0.0	.	77;77	Q8IZK9;O75832	.;PSD10_HUMAN	F	77;77;44	ENSP00000217958:L77F;ENSP00000354906:L77F;ENSP00000345963:L44F	ENSP00000217958:L77F	L	-	1	0	PSMD10	107217970	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.707000	0.54838	1.107000	0.41642	0.600000	0.82982	CTT		0.453	PSMD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057868.1	NM_170750		16	27	0	0	0	0	16	27				
CXorf56	63932	broad.mit.edu	37	X	118673707	118673707	+	Missense_Mutation	SNP	C	C	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chrX:118673707C>G	ENST00000371594.4	-	7	730	c.652G>C	c.(652-654)Gac>Cac	p.D218H	CXorf56_ENST00000320339.4_Missense_Mutation_p.D169H|CXorf56_ENST00000536133.1_Missense_Mutation_p.D204H|CXorf56_ENST00000469448.1_5'UTR	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	218										cervix(1)|endometrium(2)|lung(7)	10						AACTGGTTGTCAATCAAGGTC	0.373																																						uc004erk.1		NA																	0					0						c.(652-654)GAC>CAC		hypothetical protein LOC63932							148.0	124.0	132.0					X																	118673707		2203	4300	6503	SO:0001583	missense	63932						protein binding	g.chrX:118673707C>G	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.652G>C	X.37:g.118673707C>G	ENSP00000360652:p.Asp218His					uc004eri.2_5'Flank|CXorf56_uc004erj.1_Missense_Mutation_p.D169H|CXorf56_uc011mtu.1_Missense_Mutation_p.D204H	p.D218H	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN			7	698	-			218			Potential.		A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Missense_Mutation	SNP	ENST00000371594.4	37	c.652G>C	CCDS14579.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310186	0.81358	.	.	ENSG00000018610	ENST00000486230;ENST00000320339;ENST00000371594;ENST00000536133;ENST00000476164	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.04	5.04	0.67666	.	0.102010	0.64402	D	0.000004	T	0.44477	0.1295	L	0.43923	1.385	0.52099	D	0.999949	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.41787	-0.9489	10	0.87932	D	0	-15.8486	16.0457	0.80720	0.0:1.0:0.0:0.0	.	204;218	F5GWL7;Q9H5V9	.;CX056_HUMAN	H	218;169;218;204;218	ENSP00000420787:D218H;ENSP00000320345:D169H;ENSP00000360652:D218H;ENSP00000441786:D204H;ENSP00000420635:D218H	ENSP00000320345:D169H	D	-	1	0	CXorf56	118557735	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.658000	0.74407	2.088000	0.63022	0.600000	0.82982	GAC		0.373	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		9	11	0	0	0	0	9	11				
CNGA2	1260	broad.mit.edu	37	X	150912370	150912370	+	Missense_Mutation	SNP	G	G	C			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chrX:150912370G>C	ENST00000329903.4	+	6	1428	c.1395G>C	c.(1393-1395)gaG>gaC	p.E465D		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	465					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGTAGAGCTGGTACTGA	0.522																																						uc004fey.1		NA																	0				breast(3)	3						c.(1393-1395)GAG>GAC		cyclic nucleotide gated channel alpha 2							99.0	90.0	93.0					X																	150912370		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912370G>C	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1395G>C	X.37:g.150912370G>C	ENSP00000328478:p.Glu465Asp						p.E465D	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	1619	+	Acute lymphoblastic leukemia(192;6.56e-05)		465			Helical; Name=H6; (Potential).|cAMP (By similarity).		A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1395G>C	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919545	0.33908	.	.	ENSG00000183862	ENST00000329903	D	0.96830	-4.14	5.33	1.04	0.20106	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96815	0.8960	M	0.65677	2.01	0.46061	D	0.998844	D	0.69078	0.997	D	0.72625	0.978	D	0.94721	0.7901	10	0.72032	D	0.01	.	7.8965	0.29710	0.4446:0.0:0.5554:0.0	.	465	Q16280	CNGA2_HUMAN	D	465	ENSP00000328478:E465D	ENSP00000328478:E465D	E	+	3	2	CNGA2	150663026	1.000000	0.71417	0.961000	0.40146	0.635000	0.38103	1.378000	0.34328	-0.225000	0.09913	0.529000	0.55759	GAG		0.522	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		19	30	0	0	0	0	19	30				
AHNAK2	113146	broad.mit.edu	37	14	105419961	105419962	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr14:105419961_105419962delTG	ENST00000333244.5	-	7	1945_1946	c.1826_1827delCA	c.(1825-1827)acafs	p.T609fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	609						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCCTGCTCTGTGTCTTCTGT	0.475																																						uc010axc.1		NA																	0				ovary(1)	1						c.(1825-1827)ACAfs		AHNAK nucleoprotein 2																																				SO:0001589	frameshift_variant	113146					nucleus		g.chr14:105419961_105419962delTG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1826_1827delCA	14.37:g.105419963_105419964delTG	ENSP00000353114:p.Thr609fs					AHNAK2_uc001ypx.2_Frame_Shift_Del_p.T509fs	p.T609fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	1946_1947	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	609					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	ENST00000333244.5	37	c.1826_1827delCA	CCDS45177.1																																																																																				0.475	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	613	NA	NA	NA	NA	10	613	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31319985	31319986	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr18:31319985_31319986insA	ENST00000269197.5	+	11	2617_2618	c.2617_2618insA	c.(2617-2619)gaafs	p.E873fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	873					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCAAAGAACAGAAAAAAAAGTG	0.376																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(2617-2619)GAAfs		additional sex combs like 3																																				SO:0001589	frameshift_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319985_31319986insA	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2625dupA	18.37:g.31319993_31319993dupA	ENSP00000269197:p.Glu873fs					ASXL3_uc002kxq.2_Frame_Shift_Ins_p.E580fs	p.E873fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	2672_2673	+			873					Q6ZMX6|Q96MU3|Q9UFC5	Frame_Shift_Ins	INS	ENST00000269197.5	37	c.2617_2618insA	CCDS45847.1																																																																																				0.376	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			31	39	NA	NA	NA	NA	31	39	---	---	---	---
ACSS1	84532	broad.mit.edu	37	20	25038539	25038567	+	Frame_Shift_Del	DEL	CGGGCTGCCTGTGCACTCAGCGCGGGATA	CGGGCTGCCTGTGCACTCAGCGCGGGATA	-	rs73348757|rs369478811	byFrequency	TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr20:25038539_25038567delCGGGCTGCCTGTGCACTCAGCGCGGGATA	ENST00000323482.4	-	1	251_279	c.172_200delTATCCCGCGCTGAGTGCACAGGCAGCCCG	c.(172-201)tatcccgcgctgagtgcacaggcagcccggfs	p.YPALSAQAAR58fs	ACSS1_ENST00000376726.3_Frame_Shift_Del_p.YPALSAQAAR58fs|ACSS1_ENST00000432802.2_Frame_Shift_Del_p.YPALSAQAAR58fs	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	58					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCCGGCTCCCGGGCTGCCTGTGCACTCAGCGCGGGATACGAGCCTGGC	0.734																																						uc002wub.2		NA																	0				ovary(1)|skin(1)	2						c.(172-201)TATCCCGCGCTGAGTGCACAGGCAGCCCGGfs		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25038539_25038567delCGGGCTGCCTGTGCACTCAGCGCGGGATA		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.172_200delTATCCCGCGCTGAGTGCACAGGCAGCCCG	20.37:g.25038539_25038567delCGGGCTGCCTGTGCACTCAGCGCGGGATA	ENSP00000316924:p.Tyr58fs					ACSS1_uc002wuc.2_Frame_Shift_Del_p.Y58fs|ACSS1_uc010gdc.2_Frame_Shift_Del_p.Y58fs	p.Y58fs	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			1	1050_1078	-			58_67					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Frame_Shift_Del	DEL	ENST00000323482.4	37	c.172_200delTATCCCGCGCTGAGTGCACAGGCAGCCCG	CCDS13167.1																																																																																				0.734	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		12	34	NA	NA	NA	NA	12	34	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs530695040|rs72269802|rs5862765		TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762																																						uc003ikv.2		NA																	0				breast(1)	1						c.(163-168)insGGC		Brn3b POU domain transcription factor																																				SO:0001652	inframe_insertion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560457_147560458insGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.196_198dupGGC	4.37:g.147560464_147560466dupGGC	ENSP00000281321:p.Gly68dup						p.68_69insG	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			1	413_414	+	all_hematologic(180;0.151)		68_69					B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Ins	INS	ENST00000281321.3	37	c.165_166insGGC	CCDS34074.1																																																																																				0.762	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		6	7	NA	NA	NA	NA	6	7	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53104149	53104149	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:53104149delC	ENST00000408890.4	+	1	801	c.785delC	c.(784-786)tccfs	p.S262fs		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	262										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCGCCCCATCCGCCATCTGG	0.657																																						uc003tpz.2		NA																	0					0						c.(784-786)TCCfs		POM121 membrane glycoprotein-like 12							50.0	57.0	55.0					7																	53104149		2015	4175	6190	SO:0001589	frameshift_variant	285877							g.chr7:53104149delC		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.785delC	7.37:g.53104149delC	ENSP00000386133:p.Ser262fs						p.S262fs	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	801	+			262					Q8NDI9	Frame_Shift_Del	DEL	ENST00000408890.4	37	c.785delC	CCDS43584.1																																																																																				0.657	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		40	74	NA	NA	NA	NA	40	74	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104751259	104751259	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr7:104751259delT	ENST00000311117.3	+	26	4557	c.4012delT	c.(4012-4014)tgtfs	p.C1338fs	SRPK2_ENST00000493638.1_5'UTR|KMT2E_ENST00000334914.7_Frame_Shift_Del_p.C393fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.C1338fs|KMT2E_ENST00000334877.4_Frame_Shift_Del_p.C1296fs	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1338					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TACGAATGAATGTCCATCCCC	0.358																																						uc003vcm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(4012-4014)TGTfs		myeloid/lymphoid or mixed-lineage leukemia 5							126.0	130.0	129.0					7																	104751259		2203	4300	6503	SO:0001589	frameshift_variant	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104751259delT	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4012delT	7.37:g.104751259delT	ENSP00000312379:p.Cys1338fs					MLL5_uc010ljc.2_Frame_Shift_Del_p.C1338fs|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Frame_Shift_Del_p.C72fs|uc003vcp.1_5'Flank|MLL5_uc010ljh.1_Frame_Shift_Del_p.N101fs	p.C1338fs	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			26	4546	+			1338					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Del	DEL	ENST00000311117.3	37	c.4012delT	CCDS34723.1																																																																																				0.358	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			55	103	NA	NA	NA	NA	55	103	---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	-	GGC	rs544639534	byFrequency	TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr8:65493617_65493618insGGC	ENST00000321870.1	+	1	804_805	c.270_271insGGC	c.(271-273)ggc>GGCggc	p.91_91G>GG	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	91	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcgcgggaagtggcggcggcgg	0.782														385	0.076877	0.1475	0.0634	5008	,	,		7150	0.005		0.1223	False		,,,				2504	0.0184				Colon(113;104 1586 2865 9855 18065)	uc003xvi.2		NA																	0					0						c.(268-273)insGGC		basic helix-loop-helix domain containing, class																																				SO:0001652	inframe_insertion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493617_65493618insGGC	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.286_288dupGGC	8.37:g.65493624_65493626dupGGC	ENSP00000318799:p.Gly97dup					LOC401463_uc003xvh.2_Intron	p.97_98insG	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN			1	804_805	+			97_98			Gly-rich.			In_Frame_Ins	INS	ENST00000321870.1	37	c.270_271insGGC	CCDS6179.1																																																																																				0.782	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		6	1	NA	NA	NA	NA	6	1	---	---	---	---
PSIP1	11168	broad.mit.edu	37	9	15469032	15469033	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CX-7219-01A-11D-2012-08	TCGA-CX-7219-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	83f92af6-60ab-402e-8990-e1060ca3cc4c	36b8d80c-bb4c-404e-92fb-5ad87b3b5272	g.chr9:15469032_15469033insG	ENST00000380733.4	-	13	1471_1472	c.1128_1129insC	c.(1126-1131)gccttgfs	p.AL376fs	PSIP1_ENST00000380738.4_Frame_Shift_Ins_p.AL376fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	376					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		AGTTCATCCAAGGCCTCAATGC	0.361																																						uc003zlv.3		NA																	0				breast(1)	1						c.(1126-1131)GCCTTGfs		PC4 and SFRS1 interacting protein 1 isoform 2																																				SO:0001589	frameshift_variant	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15469032_15469033insG	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1129dupC	9.37:g.15469034_15469034dupG	ENSP00000370109:p.Ala376fs					PSIP1_uc003zlw.3_Frame_Shift_Ins_p.A376fs	p.A376fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	13	1458_1459	-			376_377			Potential.		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Frame_Shift_Ins	INS	ENST00000380733.4	37	c.1128_1129insC	CCDS6479.1																																																																																				0.361	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		17	24	NA	NA	NA	NA	17	24	---	---	---	---
