#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
NOC2L	26155	broad.mit.edu	37	1	892498	892498	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:892498G>A	ENST00000327044.6	-	3	384	c.335C>T	c.(334-336)tCc>tTc	p.S112F	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	112					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		ATCTGGCAGGGAGTGGAACGG	0.582																																						uc001abz.3		NA																	0				ovary(1)|skin(1)	2						c.(334-336)TCC>TTC		nucleolar complex associated 2 homolog							116.0	123.0	120.0					1																	892498		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:892498G>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.335C>T	1.37:g.892498G>A	ENSP00000317992:p.Ser112Phe					NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Missense_Mutation_p.S112F	p.S112F	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	3	394	-	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)	112					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.335C>T	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	8.491	0.862058	0.17178	.	.	ENSG00000188976	ENST00000327044	T	0.24538	1.85	4.51	4.51	0.55191	.	0.829198	0.11066	N	0.603482	T	0.34308	0.0893	M	0.75447	2.3	0.09310	N	1	D;D	0.57257	0.979;0.979	P;P	0.49276	0.605;0.605	T	0.43845	-0.9366	10	0.66056	D	0.02	.	3.6641	0.08249	0.093:0.1658:0.5698:0.1714	.	112;112	B3KNC3;Q9Y3T9	.;NOC2L_HUMAN	F	112	ENSP00000317992:S112F	ENSP00000317992:S112F	S	-	2	0	NOC2L	882361	0.050000	0.20438	0.553000	0.28255	0.013000	0.08279	1.169000	0.31871	2.040000	0.60383	0.558000	0.71614	TCC		0.582	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		66	389	0	0	0	0	66	389				
ARHGEF16	27237	broad.mit.edu	37	1	3394440	3394440	+	Splice_Site	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:3394440C>G	ENST00000378378.4	+	11	1880	c.1475C>G	c.(1474-1476)tCc>tGc	p.S492C	ARHGEF16_ENST00000378373.1_Splice_Site_p.S204C|ARHGEF16_ENST00000378371.2_Splice_Site_p.S204C|ARHGEF16_ENST00000413250.2_Splice_Site_p.S196C	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	492					activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCCCCCCAGTCCCTCCCACTG	0.637																																						uc001akg.3		NA																	0				ovary(1)	1						c.(1474-1476)TCC>TGC		Rho guanine exchange factor 16							39.0	43.0	42.0					1																	3394440		2180	4285	6465	SO:0001630	splice_region_variant	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3394440C>G	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1474-1C>G	1.37:g.3394440C>G						ARHGEF16_uc001aki.2_Missense_Mutation_p.S204C|ARHGEF16_uc001akj.2_Missense_Mutation_p.S204C|ARHGEF16_uc010nzh.1_Missense_Mutation_p.S196C	p.S492C	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	11	1723	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	492					Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1475C>G	CCDS46.2	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594921	0.46318	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.70282	-0.07;-0.15;-0.15;-0.47	5.51	3.64	0.41730	Pleckstrin homology-type (1);	0.124284	0.53938	D	0.000042	T	0.71728	0.3374	M	0.61703	1.905	0.36137	D	0.846542	P;P	0.51351	0.944;0.944	P;P	0.51193	0.662;0.662	T	0.77807	-0.2450	10	0.66056	D	0.02	-43.5463	7.2993	0.26411	0.1383:0.7152:0.0:0.1465	.	196;492	B4DJM7;Q5VV41	.;ARHGG_HUMAN	C	492;204;204;196	ENSP00000367629:S492C;ENSP00000367624:S204C;ENSP00000367622:S204C;ENSP00000408887:S196C	ENSP00000367622:S204C	S	+	2	0	ARHGEF16	3384300	1.000000	0.71417	0.978000	0.43139	0.005000	0.04900	5.701000	0.68325	1.318000	0.45170	-0.142000	0.14014	TCC		0.637	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448	Missense_Mutation	15	79	0	0	0	0	15	79				
AJAP1	55966	broad.mit.edu	37	1	4772109	4772109	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:4772109C>T	ENST00000378191.4	+	2	560	c.179C>T	c.(178-180)cCg>cTg	p.P60L	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.P60L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	60					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P60L(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ccgccccggccgccccggcTG	0.731																																						uc001alm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(178-180)CCG>CTG		adherens junction associated protein 1							19.0	29.0	25.0					1																	4772109		1975	3964	5939	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772109C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.179C>T	1.37:g.4772109C>T	ENSP00000367433:p.Pro60Leu					AJAP1_uc001aln.2_Missense_Mutation_p.P60L	p.P60L	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	560	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	60			Extracellular (Potential).		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.179C>T	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831922	0.32421	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.41065	1.01;1.01	4.36	3.34	0.38264	.	0.731674	0.12846	N	0.434418	T	0.23054	0.0557	N	0.24115	0.695	0.20489	N	0.999891	P	0.34587	0.458	B	0.28709	0.093	T	0.05801	-1.0863	10	0.13108	T	0.6	-9.8556	8.7557	0.34643	0.2257:0.7743:0.0:0.0	.	60	Q9UKB5	AJAP1_HUMAN	L	60	ENSP00000367432:P60L;ENSP00000367433:P60L	ENSP00000367432:P60L	P	+	2	0	AJAP1	4671969	0.906000	0.30813	0.208000	0.23602	0.382000	0.30200	2.899000	0.48679	2.322000	0.78497	0.563000	0.77884	CCG		0.731	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		25	75	0	0	0	0	25	75				
EPHA2	1969	broad.mit.edu	37	1	16458218	16458218	+	Missense_Mutation	SNP	C	C	T	rs2291806	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:16458218C>T	ENST00000358432.5	-	14	2627	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	825	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E825*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GCACCCACCTCGTGGTTGGAC	0.587																																						uc001aya.1		NA																	1	Substitution - Nonsense(1)		breast(1)	lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(2473-2475)GAG>AAG		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						70.0	63.0	66.0					1																	16458218		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16458218C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2473G>A	1.37:g.16458218C>T	ENSP00000351209:p.Glu825Lys						p.E825K	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	14	2610	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	825			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.2473G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589281	0.86851	.	.	ENSG00000142627	ENST00000358432	D	0.83163	-1.69	5.57	5.57	0.84162	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000124	D	0.87402	0.6168	L	0.43598	1.365	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	D	0.88394	0.3010	10	0.87932	D	0	.	18.1144	0.89546	0.0:1.0:0.0:0.0	rs2291806;rs2291806	825	P29317	EPHA2_HUMAN	K	825	ENSP00000351209:E825K	ENSP00000351209:E825K	E	-	1	0	EPHA2	16330805	1.000000	0.71417	0.977000	0.42913	0.252000	0.25951	7.792000	0.85828	2.618000	0.88619	0.563000	0.77884	GAG		0.587	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		11	87	0	0	0	0	11	87				
HSPG2	3339	broad.mit.edu	37	1	22158995	22158995	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:22158995C>T	ENST00000374695.3	-	81	11279	c.11200G>A	c.(11200-11202)Gag>Aag	p.E3734K	HSPG2_ENST00000486901.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3734	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CACCGGAACTCGGGCCTTCCC	0.632																																						uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(11200-11202)GAG>AAG		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						51.0	54.0	53.0					1																	22158995		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22158995C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.11200G>A	1.37:g.22158995C>T	ENSP00000363827:p.Glu3734Lys					HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.E3735K	p.E3734K	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	81	11240	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3734			Laminin G-like 1.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.11200G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330764	0.95733	.	.	ENSG00000142798	ENST00000374695	T	0.77489	-1.1	4.63	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.38663	N	0.001606	D	0.86003	0.5829	M	0.66560	2.04	0.49299	D	0.999776	D;D	0.89917	0.999;1.0	D;D	0.74348	0.948;0.983	D	0.85467	0.1170	10	0.39692	T	0.17	.	16.2115	0.82165	0.0:1.0:0.0:0.0	.	1674;3734	Q59EG0;P98160	.;PGBM_HUMAN	K	3734	ENSP00000363827:E3734K	ENSP00000363827:E3734K	E	-	1	0	HSPG2	22031582	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	6.714000	0.74692	2.402000	0.81655	0.561000	0.74099	GAG		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		16	103	0	0	0	0	16	103				
MYOM3	127294	broad.mit.edu	37	1	24432564	24432564	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:24432564C>G	ENST00000374434.3	-	5	568	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.E137Q|MYOM3_ENST00000329601.7_Missense_Mutation_p.E136Q	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	136						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCTTCTCCTCTGTCTGGAGG	0.617																																						uc001bin.3		NA																	0				skin(2)|ovary(1)	3						c.(406-408)GAG>CAG		myomesin family, member 3							45.0	55.0	52.0					1																	24432564		2098	4216	6314	SO:0001583	missense	127294							g.chr1:24432564C>G	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.406G>C	1.37:g.24432564C>G	ENSP00000363557:p.Glu136Gln					MYOM3_uc001bio.2_Missense_Mutation_p.E136Q|MYOM3_uc001bip.1_5'UTR	p.E136Q	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	5	569	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	136			Potential.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.406G>C	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449237	0.43531	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.56941	0.48;0.48;0.43	5.34	5.34	0.76211	.	0.132156	0.48767	D	0.000161	T	0.50752	0.1634	N	0.14661	0.345	0.29323	N	0.8672	P;D	0.67145	0.753;0.996	P;P	0.56216	0.511;0.794	T	0.53114	-0.8484	10	0.52906	T	0.07	.	15.967	0.79984	0.0:1.0:0.0:0.0	.	136;136	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	Q	136;137;136	ENSP00000363557:E136Q;ENSP00000332670:E137Q;ENSP00000328415:E136Q	ENSP00000328415:E136Q	E	-	1	0	MYOM3	24305151	0.919000	0.31177	0.994000	0.49952	0.319000	0.28217	1.462000	0.35266	2.518000	0.84900	0.462000	0.41574	GAG		0.617	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		7	36	0	0	0	0	7	36				
UBXN11	91544	broad.mit.edu	37	1	26620764	26620764	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:26620764G>A	ENST00000374222.1	-	9	955	c.491C>T	c.(490-492)tCa>tTa	p.S164L	UBXN11_ENST00000374221.3_Missense_Mutation_p.S164L|UBXN11_ENST00000535108.1_Missense_Mutation_p.S6L|UBXN11_ENST00000436301.2_Missense_Mutation_p.S89L|UBXN11_ENST00000374217.2_Missense_Mutation_p.S131L|UBXN11_ENST00000357089.4_Missense_Mutation_p.S131L|UBXN11_ENST00000314675.7_Intron|UBXN11_ENST00000374223.1_Intron			Q5T124	UBX11_HUMAN	UBX domain protein 11	164						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTTGCTCTCTGAGTCCTCCTG	0.617																																						uc001blw.2		NA																	0				ovary(1)	1						c.(490-492)TCA>TTA		socius isoform 2							97.0	96.0	96.0					1																	26620764		2070	4207	6277	SO:0001583	missense	91544					cytoplasm|cytoskeleton		g.chr1:26620764G>A	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.491C>T	1.37:g.26620764G>A	ENSP00000363339:p.Ser164Leu					UBXN11_uc001blz.1_Missense_Mutation_p.S131L|UBXN11_uc001blv.2_Missense_Mutation_p.S126L|UBXN11_uc001bly.2_Intron|UBXN11_uc001blx.2_Intron|UBXN11_uc001bma.2_Missense_Mutation_p.S131L|UBXN11_uc001bmb.1_Missense_Mutation_p.S164L|UBXN11_uc010ofb.1_Missense_Mutation_p.S89L|UBXN11_uc010ofc.1_Missense_Mutation_p.S6L	p.S164L	NM_183008	NP_892120	Q5T124	UBX11_HUMAN			9	764	-			164					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	c.491C>T	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306848	0.95629	.	.	ENSG00000158062	ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217;ENST00000389235;ENST00000535108;ENST00000436301;ENST00000374215;ENST00000452980;ENST00000442942;ENST00000450041;ENST00000423664	T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	3.92	3.92	0.45320	.	0.457002	0.22076	N	0.064964	T	0.57417	0.2052	L	0.54323	1.7	0.32752	N	0.506231	D;D;D;D;D	0.63880	0.981;0.993;0.989;0.989;0.993	D;P;D;D;P	0.75020	0.966;0.813;0.985;0.985;0.866	T	0.65071	-0.6257	10	0.49607	T	0.09	-9.6433	13.7379	0.62829	0.0:0.0:1.0:0.0	.	6;89;131;126;164	B7Z1T8;B7Z3N8;Q5T124-2;Q5T124-4;Q5T124	.;.;.;.;UBX11_HUMAN	L	131;164;164;131;131;6;89;126;131;131;89;126	ENSP00000349601:S131L;ENSP00000363338:S164L;ENSP00000363339:S164L;ENSP00000363334:S131L;ENSP00000446034:S6L;ENSP00000393858:S89L;ENSP00000363332:S126L;ENSP00000410357:S131L;ENSP00000404956:S131L;ENSP00000413448:S89L;ENSP00000394036:S126L	ENSP00000349601:S131L	S	-	2	0	UBXN11	26493351	0.053000	0.20554	0.879000	0.34478	0.812000	0.45895	1.762000	0.38451	2.488000	0.83962	0.561000	0.74099	TCA		0.617	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		55	96	0	0	0	0	55	96				
AIM1L	55057	broad.mit.edu	37	1	26648788	26648788	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:26648788C>G	ENST00000308182.5	-	18	2058	c.1629G>C	c.(1627-1629)gtG>gtC	p.V543V	AIM1L_ENST00000527815.1_Silent_p.V714V			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	543	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGGGTCCAATCACCTGTAGGC	0.632																																						uc001bmd.3		NA																	0				pancreas(1)	1						c.(1627-1629)GTG>GTC		absent in melanoma 1-like							37.0	39.0	38.0					1																	26648788		2203	4300	6503	SO:0001819	synonymous_variant	55057						sugar binding	g.chr1:26648788C>G			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1629G>C	1.37:g.26648788C>G							p.V543V	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	18	2059	-		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	543			Ricin B-type lectin.		B2RNG3|Q5T137|Q5T150	Silent	SNP	ENST00000308182.5	37	c.1629G>C																																																																																					0.632	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2		7	98	0	0	0	0	7	98				
ARID1A	8289	broad.mit.edu	37	1	27106087	27106087	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:27106087G>C	ENST00000324856.7	+	20	6069	c.5698G>C	c.(5698-5700)Gat>Cat	p.D1900H	ARID1A_ENST00000457599.2_Missense_Mutation_p.D1683H|ARID1A_ENST00000374152.2_Missense_Mutation_p.D1517H|ARID1A_ENST00000540690.1_Missense_Mutation_p.D228H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1900					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|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)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.D1900N(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCCCCACCTGATGGACCTCC	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		urinary_tract(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(5698-5700)GAT>CAT		AT rich interactive domain 1A isoform a							61.0	70.0	67.0					1																	27106087		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106087G>C	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5698G>C	1.37:g.27106087G>C	ENSP00000320485:p.Asp1900His					ARID1A_uc001bmu.1_Missense_Mutation_p.D1683H|ARID1A_uc001bmx.1_Missense_Mutation_p.D746H|ARID1A_uc009vsm.1_Missense_Mutation_p.D228H|ARID1A_uc009vsn.1_Missense_Mutation_p.D142H	p.D1900H	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6071	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1900					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5698G>C	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.54|14.54	2.566080|2.566080	0.45694|0.45694	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.10192|.	4.43;4.25;4.25;2.9|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.333757|.	0.33772|.	N|.	0.004563|.	T|.	0.60612|.	0.2282|.	L|L	0.40543|0.40543	1.245|1.245	0.39111|0.39111	D|D	0.961473|0.961473	P;D;D|.	0.61080|.	0.869;0.981;0.989|.	B;P;P|.	0.55303|.	0.385;0.687;0.773|.	T|.	0.58657|.	-0.7598|.	10|.	0.54805|.	T|.	0.06|.	-9.1164|-9.1164	16.6521|16.6521	0.85219|0.85219	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1517;1900;1683|.	O14497-3;O14497;O14497-2|.	.;ARI1A_HUMAN;.|.	H|S	1900;1683;1517;228|796	ENSP00000320485:D1900H;ENSP00000387636:D1683H;ENSP00000363267:D1517H;ENSP00000442437:D228H|.	ENSP00000320485:D1900H|.	D|X	+|+	1|2	0|2	ARID1A|ARID1A	26978674|26978674	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.612000|0.612000	0.37316|0.37316	4.380000|4.380000	0.59581|0.59581	2.667000|2.667000	0.90743|0.90743	0.491000|0.491000	0.48974|0.48974	GAT|TGA		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		6	88	0	0	0	0	6	88				
SFN	2810	broad.mit.edu	37	1	27189782	27189782	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:27189782A>G	ENST00000339276.4	+	1	150	c.79A>G	c.(79-81)Aaa>Gaa	p.K27E		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGCCTTCATGAAAGGCGCCGT	0.617																																						uc001bnc.1		NA																	0					0						c.(79-81)AAA>GAA		stratifin							50.0	53.0	52.0					1																	27189782		2203	4300	6503	SO:0001583	missense	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27189782A>G	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.79A>G	1.37:g.27189782A>G	ENSP00000340989:p.Lys27Glu						p.K27E	NM_006142	NP_006133	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	150	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	27					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	ENST00000339276.4	37	c.79A>G	CCDS288.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217635	0.58560	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	T	0.53206	0.63	5.95	5.95	0.96441	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	M	0.73372	2.23	0.40645	D	0.981987	B	0.19073	0.033	B	0.21360	0.034	T	0.46005	-0.9222	10	0.30078	T	0.28	-39.7246	16.0759	0.80967	1.0:0.0:0.0:0.0	.	27	P31947	1433S_HUMAN	E	27	ENSP00000340989:K27E	ENSP00000340989:K27E	K	+	1	0	SFN	27062369	1.000000	0.71417	0.998000	0.56505	0.829000	0.46940	9.335000	0.96500	2.268000	0.75426	0.533000	0.62120	AAA		0.617	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		31	68	0	0	0	0	31	68				
SFN	2810	broad.mit.edu	37	1	27190331	27190331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:27190331G>T	ENST00000339276.4	+	1	699	c.628G>T	c.(628-630)Gag>Tag	p.E210*		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CACCCTCAGCGAGGACTCCTA	0.617																																						uc001bnc.1		NA																	0					0						c.(628-630)GAG>TAG		stratifin							106.0	101.0	103.0					1																	27190331		2203	4300	6503	SO:0001587	stop_gained	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27190331G>T	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.628G>T	1.37:g.27190331G>T	ENSP00000340989:p.Glu210*					uc010ofi.1_RNA	p.E210*	NM_006142	NP_006133	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	699	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	210					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Nonsense_Mutation	SNP	ENST00000339276.4	37	c.628G>T	CCDS288.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554027	0.96501	.	.	ENSG00000175793	ENST00000339276;ENST00000538651	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.0296	20.1511	0.98086	0.0:0.0:1.0:0.0	.	.	.	.	X	210;178	.	ENSP00000340989:E210X	E	+	1	0	SFN	27062918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	GAG		0.617	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1	NM_006142		50	114	1	0	3.86e-30	4.31e-30	50	114				
COL16A1	1307	broad.mit.edu	37	1	32160810	32160810	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:32160810C>A	ENST00000373672.3	-	11	1474	c.958G>T	c.(958-960)Gtc>Ttc	p.V320F	COL16A1_ENST00000271069.6_Missense_Mutation_p.V320F|COL16A1_ENST00000373668.3_Missense_Mutation_p.V320F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	320	Nonhelical region 10 (NC10).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCACCATGGACACAGGGCGGA	0.627																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NA																	0				ovary(8)	8						c.(958-960)GTC>TTC		alpha 1 type XVI collagen precursor							56.0	64.0	61.0					1																	32160810		2097	4205	6302	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32160810C>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.958G>T	1.37:g.32160810C>A	ENSP00000362776:p.Val320Phe					COL16A1_uc001btj.1_Missense_Mutation_p.V149F|COL16A1_uc001btl.3_Missense_Mutation_p.V320F	p.V320F	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	11	1323	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	320			Nonhelical region 10 (NC10).		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.958G>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821932	0.32237	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	D;D;D;D	0.93604	-2.59;-2.62;-2.67;-3.25	5.27	4.35	0.52113	.	0.648087	0.14968	N	0.287969	D	0.92312	0.7561	L	0.39898	1.24	0.31918	N	0.613791	D;B;B	0.63880	0.993;0.119;0.189	P;B;B	0.53722	0.733;0.037;0.082	D	0.90958	0.4810	10	0.44086	T	0.13	.	10.1032	0.42517	0.0:0.9061:0.0:0.0939	.	320;320;320	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	F	320;320;320;48	ENSP00000362776:V320F;ENSP00000271069:V320F;ENSP00000362772:V320F;ENSP00000362771:V48F	ENSP00000271069:V320F	V	-	1	0	COL16A1	31933397	0.990000	0.36364	0.870000	0.34147	0.459000	0.32528	0.612000	0.24283	1.355000	0.45865	0.563000	0.77884	GTC		0.627	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		12	46	1	0	3.07e-06	3.24e-06	12	46				
AGO1	26523	broad.mit.edu	37	1	36384759	36384759	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:36384759G>T	ENST00000373204.4	+	18	2582	c.2369G>T	c.(2368-2370)cGa>cTa	p.R790L	AGO1_ENST00000373206.1_Missense_Mutation_p.R715L	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	790	Interaction with guide RNA.|Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										ACTTACGTACGATGCACACGC	0.552																																						uc001bzl.2		NA																	0				ovary(2)|skin(1)	3						c.(2368-2370)CGA>CTA		eukaryotic translation initiation factor 2C, 1							148.0	102.0	117.0					1																	36384759		2203	4300	6503	SO:0001583	missense	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36384759G>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.2369G>T	1.37:g.36384759G>T	ENSP00000362300:p.Arg790Leu					EIF2C1_uc001bzk.2_Missense_Mutation_p.R715L|EIF2C1_uc009vuy.2_RNA	p.R790L	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			18	2582	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	790			Piwi.		Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.2369G>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723882	0.68959	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.33438	1.41;1.41	5.54	4.63	0.57726	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.72526	0.3471	H	0.99357	4.53	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.85087	0.0949	10	0.87932	D	0	-3.6759	14.6629	0.68885	0.0699:0.0:0.9301:0.0	.	790	Q9UL18	AGO1_HUMAN	L	715;790	ENSP00000362302:R715L;ENSP00000362300:R790L	ENSP00000362300:R790L	R	+	2	0	EIF2C1	36157346	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.813000	0.99286	1.483000	0.48342	-0.136000	0.14681	CGA		0.552	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			17	35	1	0	4.76e-15	5.2e-15	17	35				
MFSD2A	84879	broad.mit.edu	37	1	40422867	40422867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:40422867C>T	ENST00000372809.5	+	2	345	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Nonsense_Mutation_p.Q68*	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	68					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTTCTTCCTTCAGATCTACCT	0.527																																						uc001cev.2		NA																	0				ovary(1)|pancreas(1)	2						c.(202-204)CAG>TAG		major facilitator superfamily domain containing							172.0	176.0	175.0					1																	40422867		2203	4300	6503	SO:0001587	stop_gained	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40422867C>T	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.202C>T	1.37:g.40422867C>T	ENSP00000361895:p.Gln68*					MFSD2A_uc010ojb.1_Intron|MFSD2A_uc001ceu.2_Nonsense_Mutation_p.Q68*|MFSD2A_uc010ojc.1_Intron|MFSD2A_uc009vvy.2_RNA	p.Q68*	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			2	383	+			68					A8K675|Q6UWU5|Q96F59|Q9BRC8	Nonsense_Mutation	SNP	ENST00000372809.5	37	c.202C>T	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	C	38	6.762178	0.97821	.	.	ENSG00000168389	ENST00000372811;ENST00000434861;ENST00000372809	.	.	.	4.86	4.86	0.63082	.	0.112231	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-3.6588	16.9853	0.86338	0.0:1.0:0.0:0.0	.	.	.	.	X	68;66;68	.	ENSP00000361895:Q68X	Q	+	1	0	MFSD2A	40195454	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.258000	0.78371	2.250000	0.74265	0.462000	0.41574	CAG		0.527	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		150	284	0	0	0	0	150	284				
CCDC30	728621	broad.mit.edu	37	1	43021987	43021987	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:43021987G>T	ENST00000340612.4	+	4	586	c.586G>T	c.(586-588)Gtg>Ttg	p.V196L	CCDC30_ENST00000428554.2_Missense_Mutation_p.V196L|CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.V196L|CCDC30_ENST00000390640.4_Intron			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	196						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TGAGGAAATTGTGAGGCTTAG	0.463																																						uc009vwk.1		NA																	0					0						c.(586-588)GTG>TTG		coiled-coil domain containing 30							87.0	82.0	84.0					1																	43021987		2203	4300	6503	SO:0001583	missense	728621							g.chr1:43021987G>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.586G>T	1.37:g.43021987G>T	ENSP00000340378:p.Val196Leu					CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Intron	p.V196L	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN			5	696	+			196			Potential.		Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.586G>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	1.321	-0.599525	0.03744	.	.	ENSG00000186409	ENST00000428554;ENST00000340612;ENST00000342022	T;T;T	0.45668	0.89;0.89;0.89	5.2	1.22	0.21188	.	1.544530	0.03376	N	0.199666	T	0.32255	0.0823	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.16335	-1.0406	10	0.28530	T	0.3	.	6.7856	0.23672	0.2195:0.1291:0.6514:0.0	.	196	Q5VVM6	CCD30_HUMAN	L	196	ENSP00000397035:V196L;ENSP00000340378:V196L;ENSP00000339280:V196L	ENSP00000340378:V196L	V	+	1	0	CCDC30	42794574	0.077000	0.21312	0.008000	0.14137	0.383000	0.30230	0.317000	0.19487	0.133000	0.18654	-0.165000	0.13383	GTG		0.463	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		15	37	1	0	1.5e-05	1.58e-05	15	37				
ERI3	79033	broad.mit.edu	37	1	44820585	44820585	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:44820585C>G	ENST00000372257.2	-	1	295	c.114G>C	c.(112-114)ccG>ccC	p.P38P	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_5'Flank	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	38							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCCCCAACTCGGGCCCATCC	0.697																																						uc001clt.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(112-114)CCG>CCC		prion protein interacting protein							12.0	15.0	14.0					1																	44820585		2173	4246	6419	SO:0001819	synonymous_variant	79033					intracellular	exonuclease activity|metal ion binding|nucleic acid binding	g.chr1:44820585C>G	AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"""Enhanced RNAi three prime mRNA exonucleases"""	17276	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)"", ""exoribonuclease 3"""	609917	"""prion protein interacting protein"""	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.114G>C	1.37:g.44820585C>G						ERI3_uc010okv.1_5'Flank|ERI3_uc009vxg.2_Silent_p.P38P|ERI3_uc010okw.1_5'UTR|ERI3_uc001clu.2_5'UTR	p.P38P	NM_024066	NP_076971	O43414	ERI3_HUMAN			1	355	-			38					B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Silent	SNP	ENST00000372257.2	37	c.114G>C	CCDS30696.1																																																																																				0.697	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020243.1	NM_024066		4	42	0	0	0	0	4	42				
PTCH2	8643	broad.mit.edu	37	1	45296710	45296710	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:45296710C>T	ENST00000372192.3	-	6	753	c.623G>A	c.(622-624)cGc>cAc	p.R208H	PTCH2_ENST00000447098.2_Missense_Mutation_p.R208H	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	208					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GATATCCGGGCGGCCGCTGAG	0.612									Basal Cell Nevus syndrome																													uc010olf.1		NA																	0				lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(622-624)CGC>CAC		patched 2							18.0	20.0	19.0					1																	45296710		2203	4300	6503	SO:0001583	missense	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45296710C>T	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.623G>A	1.37:g.45296710C>T	ENSP00000361266:p.Arg208His					PTCH2_uc010olg.1_Intron	p.R208H	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			6	635	-	Acute lymphoblastic leukemia(166;0.155)		208			Extracellular (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.623G>A	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617271	0.46736	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92595	-3.06;-3.07	4.83	3.79	0.43588	.	0.000000	0.50627	D	0.000104	D	0.89326	0.6683	L	0.56769	1.78	0.25017	N	0.991362	B	0.06786	0.001	B	0.04013	0.001	T	0.81609	-0.0855	10	0.51188	T	0.08	-3.7794	11.8779	0.52558	0.0:0.906:0.0:0.094	.	208	Q9Y6C5	PTC2_HUMAN	H	208	ENSP00000389703:R208H;ENSP00000361266:R208H	ENSP00000361266:R208H	R	-	2	0	PTCH2	45069297	0.861000	0.29849	0.946000	0.38457	0.442000	0.32017	1.472000	0.35376	1.072000	0.40860	0.655000	0.94253	CGC		0.612	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		19	28	0	0	0	0	19	28				
NDC1	55706	broad.mit.edu	37	1	54233687	54233687	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:54233687C>T	ENST00000371429.3	-	18	2579	c.1981G>A	c.(1981-1983)Gaa>Aaa	p.E661K	NDC1_ENST00000540001.1_3'UTR|NDC1_ENST00000234725.8_Missense_Mutation_p.E546K|NDC1_ENST00000537333.1_Missense_Mutation_p.E326K	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	661					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										TTCTGATGTTCTGCAGATGCT	0.338																																						uc001cvs.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1981-1983)GAA>AAA		transmembrane protein 48							94.0	88.0	90.0					1																	54233687		2202	4299	6501	SO:0001583	missense	55706				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore	g.chr1:54233687C>T	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1981G>A	1.37:g.54233687C>T	ENSP00000360483:p.Glu661Lys					TMEM48_uc010onu.1_Missense_Mutation_p.E621K|TMEM48_uc001cvt.2_Missense_Mutation_p.E538K|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_Missense_Mutation_p.E326K	p.E661K	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN			18	2222	-			661			Cytoplasmic (Potential).		B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	c.1981G>A	CCDS583.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441191	0.83993	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000537333;ENST00000234725	T;T;T	0.47528	0.84;0.84;0.84	5.89	5.89	0.94794	.	0.045988	0.85682	D	0.000000	T	0.66479	0.2793	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.58194	-0.7679	10	0.17369	T	0.5	.	18.4179	0.90576	0.0:1.0:0.0:0.0	.	621;661	B4DHA3;Q9BTX1	.;NDC1_HUMAN	K	661;544;326;546	ENSP00000360483:E661K;ENSP00000439947:E326K;ENSP00000234725:E546K	ENSP00000234725:E546K	E	-	1	0	TMEM48	54006275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.841000	0.75374	2.787000	0.95880	0.591000	0.81541	GAA		0.338	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		9	73	0	0	0	0	9	73				
YIPF1	54432	broad.mit.edu	37	1	54332512	54332512	+	Silent	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:54332512T>C	ENST00000072644.1	-	8	903	c.567A>G	c.(565-567)aaA>aaG	p.K189K	YIPF1_ENST00000539954.1_Silent_p.K214K|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_Silent_p.K6K	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	189						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TGTTCATAACTTTGCTGTTTC	0.458																																						uc001cvu.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(565-567)AAA>AAG		Yip1 domain family, member 1							118.0	102.0	108.0					1																	54332512		2203	4300	6503	SO:0001819	synonymous_variant	54432					integral to membrane|transport vesicle		g.chr1:54332512T>C	BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.567A>G	1.37:g.54332512T>C						YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA	p.K189K	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN			8	904	-			189			Cytoplasmic (Potential).		B2RCM7|D3DQ40|Q9NWJ1	Silent	SNP	ENST00000072644.1	37	c.567A>G	CCDS584.1																																																																																				0.458	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022103.5	NM_018982		8	82	0	0	0	0	8	82				
SERBP1	26135	broad.mit.edu	37	1	67889986	67889986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:67889986G>A	ENST00000370995.2	-	5	800	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	SERBP1_ENST00000484880.1_Intron|SERBP1_ENST00000361219.6_Intron|SERBP1_ENST00000370990.5_Nonsense_Mutation_p.Q233*|SERBP1_ENST00000370994.4_Intron			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	239					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						ATTTGTTTCTGAATGTATTTG	0.363																																						uc001ddv.2		NA																	0				skin(1)	1						c.(715-717)CAG>TAG		SERPINE1 mRNA binding protein 1 isoform 1							77.0	79.0	78.0					1																	67889986		2203	4300	6503	SO:0001587	stop_gained	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67889986G>A	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.715C>T	1.37:g.67889986G>A	ENSP00000360034:p.Gln239*					SERBP1_uc001ddx.2_Nonsense_Mutation_p.Q233*|SERBP1_uc001ddy.2_Intron|SERBP1_uc001ddw.2_Intron	p.Q239*	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN			5	855	-			239					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Nonsense_Mutation	SNP	ENST00000370995.2	37	c.715C>T	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	33	5.222901	0.95139	.	.	ENSG00000142864	ENST00000370995;ENST00000370990	.	.	.	4.65	4.65	0.58169	.	0.326386	0.26265	N	0.025367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-24.928	10.8132	0.46559	0.0879:0.0:0.9121:0.0	.	.	.	.	X	239;233	.	ENSP00000360029:Q233X	Q	-	1	0	SERBP1	67662574	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.065000	0.30592	2.565000	0.86533	0.557000	0.71058	CAG		0.363	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		10	117	0	0	0	0	10	117				
RBMXL1	494115	broad.mit.edu	37	1	89448482	89448482	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:89448482C>G	ENST00000321792.5	-	2	1455	c.1028G>C	c.(1027-1029)aGa>aCa	p.R343T	CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R343T|RBMXL1_ENST00000413769.1_5'Flank	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	343	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TCTTTCTTGTCTGCCAACCCT	0.512																																						uc009wcx.2		NA																	0					0						c.(1027-1029)AGA>ACA		RNA binding motif protein, X-linked-like 1							167.0	169.0	169.0					1																	89448482		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448482C>G	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.1028G>C	1.37:g.89448482C>G	ENSP00000318415:p.Arg343Thr					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.R343T	p.R343T	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN			3	1744	-			343			Ser-rich.			Missense_Mutation	SNP	ENST00000321792.5	37	c.1028G>C	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664400	0.47572	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	D;D	0.86230	-2.09;-2.09	1.89	1.89	0.25635	.	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	M	0.73962	2.25	0.36181	D	0.849439	P	0.43477	0.808	B	0.36464	0.225	T	0.78945	-0.2004	10	0.87932	D	0	-1.2549	9.4029	0.38444	0.0:1.0:0.0:0.0	.	343	Q96E39	RBMXL_HUMAN	T	343	ENSP00000318415:R343T;ENSP00000446099:R343T	ENSP00000318415:R343T	R	-	2	0	RBMXL1	89221070	1.000000	0.71417	0.996000	0.52242	0.891000	0.51852	4.995000	0.63908	1.059000	0.40554	0.306000	0.20318	AGA		0.512	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		75	245	0	0	0	0	75	245				
WDR77	79084	broad.mit.edu	37	1	111989744	111989744	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:111989744G>A	ENST00000235090.5	-	4	672	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	Y_RNA_ENST00000363020.1_RNA|WDR77_ENST00000497278.1_5'UTR|ATP5F1_ENST00000483994.1_5'Flank|ATP5F1_ENST00000369722.3_5'Flank|WDR77_ENST00000411751.2_Intron	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	156					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACCACCTGCTGAGCAAGGTCC	0.388																																						uc001ebb.2		NA																	0					0						c.(466-468)CAG>TAG		WD repeat domain 77							146.0	136.0	139.0					1																	111989744		2203	4300	6503	SO:0001587	stop_gained	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111989744G>A	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.466C>T	1.37:g.111989744G>A	ENSP00000235090:p.Gln156*					WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Intron|ATP5F1_uc009wgf.1_5'Flank|ATP5F1_uc001ebc.2_5'Flank|ATP5F1_uc001ebd.3_5'Flank	p.Q156*	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	4	505	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	156			WD 2.		B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Nonsense_Mutation	SNP	ENST00000235090.5	37	c.466C>T	CCDS835.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634469	0.87660	.	.	ENSG00000116455	ENST00000235090	.	.	.	5.67	3.72	0.42706	.	0.050989	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-2.5018	16.043	0.80698	0.0:0.2527:0.7473:0.0	.	.	.	.	X	156	.	ENSP00000235090:Q156X	Q	-	1	0	WDR77	111791267	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.512000	0.53407	1.388000	0.46506	0.462000	0.41574	CAG		0.388	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		31	116	0	0	0	0	31	116				
CAPZA1	829	broad.mit.edu	37	1	113212164	113212164	+	Splice_Site	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:113212164G>T	ENST00000263168.3	+	9	1329		c.e9-1		CAPZA1_ENST00000476936.1_Splice_Site	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTTCATTAGAATGAAGCCC	0.323																																						uc001ecj.1		NA																	0					0						c.e9-1		F-actin capping protein alpha-1 subunit							59.0	61.0	61.0					1																	113212164		2203	4300	6503	SO:0001630	splice_region_variant	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113212164G>T	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.658-1G>T	1.37:g.113212164G>T							p.N220_splice	NM_006135	NP_006126	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1050	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)						Q53FQ6|Q6FHD5	Splice_Site	SNP	ENST00000263168.3	37	c.658_splice	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025019	0.54683	.	.	ENSG00000116489	ENST00000263168	.	.	.	5.76	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2084	0.73198	0.0:0.0:0.858:0.142	.	.	.	.	.	-1	.	.	.	+	.	.	CAPZA1	113013687	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	9.703000	0.98714	1.542000	0.49330	0.650000	0.86243	.		0.323	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135	Intron	15	68	1	0	1.52e-12	1.65e-12	15	68				
FLG	2312	broad.mit.edu	37	1	152278805	152278805	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:152278805G>T	ENST00000368799.1	-	3	8592	c.8557C>A	c.(8557-8559)Cac>Aac	p.H2853N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2853	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAGTGCCTGGAGCCG	0.572									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(8557-8559)CAC>AAC		filaggrin							388.0	593.0	525.0					1																	152278805		2148	4299	6447	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278805G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8557C>A	1.37:g.152278805G>T	ENSP00000357789:p.His2853Asn						p.H2853N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8593	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2853			Ser-rich.|Filaggrin 17.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8557C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.577	0.881505	0.17467	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.04551	3.6	2.92	0.601	0.17529	.	.	.	.	.	T	0.02649	0.0080	M	0.76838	2.35	0.09310	N	1	P	0.45594	0.862	B	0.41988	0.372	T	0.36383	-0.9750	9	0.72032	D	0.01	-1.6741	2.9809	0.05953	0.1633:0.0:0.571:0.2657	.	2853	P20930	FILA_HUMAN	N	2853;115	ENSP00000357789:H2853N	ENSP00000357786:H115N	H	-	1	0	FLG	150545429	0.003000	0.15002	0.001000	0.08648	0.024000	0.10985	1.389000	0.34453	0.319000	0.23209	0.306000	0.20318	CAC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		160	798	1	0	3.39e-80	3.81e-80	160	798				
NUP210L	91181	broad.mit.edu	37	1	153984740	153984740	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:153984740C>T	ENST00000368559.3	-	34	4831	c.4760G>A	c.(4759-4761)aGa>aAa	p.R1587K	NUP210L_ENST00000271854.3_Missense_Mutation_p.R1587K|NUP210L_ENST00000368553.1_Missense_Mutation_p.R520K	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1587					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GACACCATTTCTGCCAGTGGT	0.383																																						uc001fdw.2		NA																	0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(4759-4761)AGA>AAA		nucleoporin 210kDa-like isoform 1							289.0	255.0	265.0					1																	153984740		1924	4153	6077	SO:0001583	missense	91181					integral to membrane		g.chr1:153984740C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4760G>A	1.37:g.153984740C>T	ENSP00000357547:p.Arg1587Lys					NUP210L_uc009woq.2_Missense_Mutation_p.R496K|NUP210L_uc010peh.1_Missense_Mutation_p.R1587K	p.R1587K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		34	4832	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1587					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.4760G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441225	0.43326	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.21543	3.65;2.0;3.33	6.0	6.0	0.97389	.	0.168577	0.43416	D	0.000571	T	0.09468	0.0233	L	0.57536	1.79	0.25624	N	0.986366	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.34279	-0.9835	10	0.07325	T	0.83	-8.8756	17.2788	0.87122	0.0:1.0:0.0:0.0	.	1587;1587	E7EP56;Q5VU65	.;P210L_HUMAN	K	1587;520;1587	ENSP00000357547:R1587K;ENSP00000357541:R520K;ENSP00000271854:R1587K	ENSP00000271854:R1587K	R	-	2	0	NUP210L	152251364	0.995000	0.38212	1.000000	0.80357	0.943000	0.58893	2.694000	0.47035	2.868000	0.98415	0.555000	0.69702	AGA		0.383	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		14	172	0	0	0	0	14	172				
EFNA4	1945	broad.mit.edu	37	1	155039242	155039242	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155039242C>G	ENST00000368409.3	+	2	243	c.150C>G	c.(148-150)ctC>ctG	p.L50L	EFNA3_ENST00000505139.1_Intron|EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000427683.2_Silent_p.L50L|EFNA4_ENST00000359751.4_Silent_p.L50L	NM_005227.2	NP_005218.1	P52798	EFNA4_HUMAN	ephrin-A4	50	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGCTGGGCCTCAACGATTACC	0.627																																						uc001fhd.2		NA																	0					0						c.(148-150)CTC>CTG		ephrin A4 isoform a							51.0	51.0	51.0					1																	155039242		2203	4300	6503	SO:0001819	synonymous_variant	1945				cell-cell signaling	anchored to membrane|extracellular region|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155039242C>G	AJ006352	CCDS1089.1, CCDS41407.1, CCDS44237.1	1q21-q22	2011-03-09			ENSG00000243364	ENSG00000243364		"""Ephrins"""	3224	protein-coding gene	gene with protein product		601380		EPLG4		8660976	Standard	NM_182690		Approved	LERK4		P52798	OTTHUMG00000035309	ENST00000368409.3:c.150C>G	1.37:g.155039242C>G						EFNA3_uc010pew.1_Intron|EFNA4_uc001fhc.2_Silent_p.L50L|EFNA4_uc001fhe.2_Silent_p.L50L	p.L50L	NM_005227	NP_005218	P52798	EFNA4_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		2	237	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		50					C9JHJ8|G3XAK2|O95457|Q5SR71|Q6FI57	Silent	SNP	ENST00000368409.3	37	c.150C>G	CCDS1089.1																																																																																				0.627	EFNA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000085421.2	NM_005227		25	48	0	0	0	0	25	48				
FDPS	2224	broad.mit.edu	37	1	155279994	155279994	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155279994G>A	ENST00000356657.6	+	3	499	c.337G>A	c.(337-339)Gag>Aag	p.E113K	FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000447866.1_Missense_Mutation_p.E47K|FDPS_ENST00000368356.4_Missense_Mutation_p.E113K	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	113					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CCGGCTCAAGGAGGTGAGGGA	0.517																																						uc001fkc.2		NA																	0					0						c.(337-339)GAG>AAG		farnesyl diphosphate synthase isoform a	Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)						51.0	52.0	52.0					1																	155279994		2203	4300	6503	SO:0001583	missense	2224				cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:155279994G>A	J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.337G>A	1.37:g.155279994G>A	ENSP00000349078:p.Glu113Lys					RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.E47K|FDPS_uc001fke.2_Missense_Mutation_p.E113K|FDPS_uc001fkf.2_Missense_Mutation_p.E47K	p.E113K	NM_002004	NP_001995	P14324	FPPS_HUMAN	Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		3	556	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		113					D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	ENST00000356657.6	37	c.337G>A	CCDS1110.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354964	0.41700	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.65549	-0.16;-0.16;-0.16	4.2	1.24	0.21308	Terpenoid synthase (2);	0.214024	0.23563	N	0.046837	T	0.23014	0.0556	N	0.20483	0.58	0.38912	D	0.957567	B	0.23735	0.09	B	0.35510	0.204	T	0.04140	-1.0974	10	0.10636	T	0.68	-15.6143	5.4691	0.16660	0.1973:0.171:0.6317:0.0	.	113	P14324	FPPS_HUMAN	K	47;113;113	ENSP00000391755:E47K;ENSP00000357340:E113K;ENSP00000349078:E113K	ENSP00000349078:E113K	E	+	1	0	FDPS	153546618	0.998000	0.40836	1.000000	0.80357	0.926000	0.56050	0.127000	0.15790	0.505000	0.28104	0.591000	0.81541	GAG		0.517	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039053.1	NM_002004		9	67	0	0	0	0	9	67				
SYT11	23208	broad.mit.edu	37	1	155838359	155838359	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:155838359G>A	ENST00000368324.4	+	2	891	c.638G>A	c.(637-639)aGa>aAa	p.R213K	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	213	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.R213T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTGAAGACCAGAGTGCTGCGG	0.572																																						uc001fmg.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(1)|skin(1)	2						c.(637-639)AGA>AAA		synaptotagmin XI							106.0	90.0	96.0					1																	155838359		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838359G>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.638G>A	1.37:g.155838359G>A	ENSP00000357307:p.Arg213Lys					SYT11_uc010pgq.1_Intron	p.R213K	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	901	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		213			Cytoplasmic (Potential).|C2 1.		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.638G>A	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898092	0.91962	.	.	ENSG00000132718	ENST00000368324	T	0.69435	-0.4	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.70798	0.3265	L	0.37750	1.13	0.80722	D	1	P	0.52061	0.95	D	0.77004	0.989	T	0.64841	-0.6312	10	0.30854	T	0.27	.	20.0189	0.97489	0.0:0.0:1.0:0.0	.	213	Q9BT88	SYT11_HUMAN	K	213	ENSP00000357307:R213K	ENSP00000357307:R213K	R	+	2	0	SYT11	154104983	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.835000	0.99442	2.828000	0.97474	0.655000	0.94253	AGA		0.572	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		5	144	0	0	0	0	5	144				
SELL	6402	broad.mit.edu	37	1	169672451	169672451	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:169672451C>T	ENST00000236147.4	-	6	1096	c.936G>A	c.(934-936)aaG>aaA	p.K312K	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	299	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.K299N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AAATGGTTTTCTTCTTCCCAA	0.423																																						uc001ggk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(895-897)AAG>AAA		selectin L precursor							99.0	89.0	92.0					1																	169672451		1885	4122	6007	SO:0001819	synonymous_variant	6402				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	g.chr1:169672451C>T	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.936G>A	1.37:g.169672451C>T						C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Silent_p.K252K|SELL_uc001ggl.1_Silent_p.K312K	p.K299K	NM_000655	NP_000646	P14151	LYAM1_HUMAN			6	1095	-	all_hematologic(923;0.208)		299			Extracellular (Potential).|Sushi 2.		B2R6Q8|P15023|Q9UJ43	Silent	SNP	ENST00000236147.4	37	c.897G>A	CCDS53427.1																																																																																				0.423	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		3	51	0	0	0	0	3	51				
SLC9C2	284525	broad.mit.edu	37	1	173552647	173552647	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:173552647C>G	ENST00000367714.3	-	6	1060	c.638G>C	c.(637-639)aGa>aCa	p.R213T	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R111T|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	213					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GCTCCTACCTCTAAAAATAGA	0.294																																						uc001giz.2		NA																	0				ovary(2)	2						c.(637-639)AGA>ACA		solute carrier family 9, member 11							44.0	47.0	46.0					1																	173552647		2202	4296	6498	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173552647C>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.638G>C	1.37:g.173552647C>G	ENSP00000356687:p.Arg213Thr					SLC9A11_uc010pmq.1_RNA	p.R213T	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			6	1061	-			213					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.638G>C	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	9.729	1.161658	0.21538	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.15256	2.44;2.44	5.37	-2.38	0.06622	Cation/H+ exchanger (1);	0.624634	0.14875	N	0.293290	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.15052	0.012	T	0.44019	-0.9355	10	0.11485	T	0.65	-4.3891	1.1875	0.01858	0.1572:0.2439:0.1551:0.4438	.	213	Q5TAH2	S9A11_HUMAN	T	213;111	ENSP00000356687:R213T;ENSP00000445437:R111T	ENSP00000356687:R213T	R	-	2	0	SLC9A11	171819270	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.140000	0.03210	-0.275000	0.09219	-0.188000	0.12872	AGA		0.294	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		8	104	0	0	0	0	8	104				
SMG7	9887	broad.mit.edu	37	1	183511286	183511286	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:183511286C>T	ENST00000347615.2	+	14	1610	c.1491C>T	c.(1489-1491)ccC>ccT	p.P497P	SMG7_ENST00000367537.3_Silent_p.P526P|SMG7_ENST00000515829.2_Silent_p.P497P|SMG7_ENST00000456731.2_Silent_p.P455P|SMG7_ENST00000507469.1_Silent_p.P497P|SMG7_ENST00000508461.1_Silent_p.P455P	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	497					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TGGAAGACCCCAGTGAAGCCA	0.418																																						uc001gqg.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1489-1491)CCC>CCT		SMG-7 homolog isoform 1							123.0	134.0	130.0					1																	183511286		2203	4300	6503	SO:0001819	synonymous_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183511286C>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1491C>T	1.37:g.183511286C>T						SMG7_uc010pob.1_Silent_p.P526P|SMG7_uc001gqf.2_Silent_p.P497P|SMG7_uc001gqh.2_Silent_p.P497P|SMG7_uc001gqi.2_Silent_p.P455P|SMG7_uc010poc.1_Silent_p.P455P	p.P497P	NM_173156	NP_775179	Q92540	SMG7_HUMAN			14	1613	+			497					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	ENST00000347615.2	37	c.1491C>T	CCDS1355.1																																																																																				0.418	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		107	200	0	0	0	0	107	200				
FAM58BP	339521	broad.mit.edu	37	1	200183441	200183441	+	IGR	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:200183441G>C								NR5A2 (36889 upstream) : RP11-532L16.3 (101121 downstream)																							TAGACACAGAGATCCCCTAAG	0.532																																						uc009wzi.1		NA																	0					0						c.(748-750)GAG>GAC		family with sequence similarity 58 member B							99.0	100.0	100.0					1																	200183441		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183441G>C																													1.37:g.200183441G>C							p.E250D	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	786	+	Prostate(682;0.19)		250						Missense_Mutation	SNP		37	c.750G>C																																																																																				0	0.532									17	133	0	0	0	0	17	133				
USH2A	7399	broad.mit.edu	37	1	215848781	215848781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:215848781G>A	ENST00000307340.3	-	63	12858	c.12472C>T	c.(12472-12474)Cag>Tag	p.Q4158*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q4158*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4158	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGCCAGCTGAGAGTCTGGA	0.532										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12472-12474)CAG>TAG		usherin isoform B							51.0	53.0	52.0					1																	215848781		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848781G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12472C>T	1.37:g.215848781G>A	ENSP00000305941:p.Gln4158*	HNSCC(13;0.011)					p.Q4158*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12859	-			4158			Extracellular (Potential).|Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.12472C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	55	23.982550	0.99958	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.25	5.25	0.73442	.	0.000000	0.42821	D	0.000652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.8573	0.92257	0.0:0.0:1.0:0.0	.	.	.	.	X	4158	.	ENSP00000305941:Q4158X	Q	-	1	0	USH2A	213915404	1.000000	0.71417	0.206000	0.23566	0.568000	0.35870	9.258000	0.95555	2.454000	0.82982	0.650000	0.86243	CAG		0.532	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	70	0	0	0	0	6	70				
MIA3	375056	broad.mit.edu	37	1	222801826	222801826	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:222801826G>C	ENST00000344922.5	+	4	1289	c.1264G>C	c.(1264-1266)Gat>Cat	p.D422H	MIA3_ENST00000344507.1_Missense_Mutation_p.D422H|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.D422H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	422					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATTAGTCCCAGATAGCAAACA	0.383																																						uc001hnl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1264-1266)GAT>CAT		melanoma inhibitory activity family, member 3							119.0	114.0	115.0					1																	222801826		1940	4135	6075	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222801826G>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1264G>C	1.37:g.222801826G>C	ENSP00000340900:p.Asp422His					MIA3_uc009xea.1_Missense_Mutation_p.D258H	p.D422H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	1273	+			422			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.1264G>C	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.268|9.268	1.045019|1.045019	0.19748|0.19748	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507|ENST00000354906	T;T;T|.	0.42900|.	0.96;0.96;1.47|.	5.06|5.06	1.41|1.41	0.22369|0.22369	.|.	.|.	.|.	.|.	.|.	T|T	0.17195|0.17195	0.0413|0.0413	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.33448|.	0.32;0.412|.	B;B|.	0.43478|.	0.421;0.058|.	T|T	0.27468|0.27468	-1.0073|-1.0073	9|5	0.48119|.	T|.	0.1|.	.|.	7.194|7.194	0.25841|0.25841	0.2387:0.0:0.6328:0.1284|0.2387:0.0:0.6328:0.1284	.|.	422;422|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	H|T	422|4	ENSP00000340900:D422H;ENSP00000340587:D422H;ENSP00000341348:D422H|.	ENSP00000325973:D422H|.	D|R	+|+	1|2	0|0	MIA3|MIA3	220868449|220868449	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.031000|0.031000	0.12232|0.12232	0.397000|0.397000	0.20883|0.20883	0.566000|0.566000	0.29273|0.29273	0.305000|0.305000	0.20034|0.20034	GAT|AGA		0.383	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		16	144	0	0	0	0	16	144				
GALNT2	2590	broad.mit.edu	37	1	230338990	230338990	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:230338990G>A	ENST00000366672.4	+	3	400	c.328G>A	c.(328-330)Gat>Aat	p.D110N	GALNT2_ENST00000541865.1_Missense_Mutation_p.D20N|GALNT2_ENST00000543760.1_Missense_Mutation_p.D72N	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	110					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGTGGAGAGTGATAAGCTTCG	0.547																																						uc010pwa.1		NA																	0				ovary(2)	2						c.(328-330)GAT>AAT		polypeptide N-acetylgalactosaminyltransferase 2							124.0	121.0	122.0					1																	230338990		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230338990G>A	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.328G>A	1.37:g.230338990G>A	ENSP00000355632:p.Asp110Asn					GALNT2_uc010pvy.1_Missense_Mutation_p.D72N|GALNT2_uc010pvz.1_RNA	p.D110N	NM_004481	NP_004472	Q10471	GALT2_HUMAN			3	400	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	110			Lumenal (Potential).		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.328G>A	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160043	0.94727	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000541865	T;T;T	0.63417	0.02;-0.04;0.63	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.75224	-0.3393	10	0.52906	T	0.07	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	110;72	Q10471;G3V1S6	GALT2_HUMAN;.	N	72;110;20	ENSP00000445017:D72N;ENSP00000355632:D110N;ENSP00000444346:D20N	ENSP00000355632:D110N	D	+	1	0	GALNT2	228405613	1.000000	0.71417	0.317000	0.25265	0.768000	0.43524	9.792000	0.99085	2.826000	0.97356	0.655000	0.94253	GAT		0.547	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		32	152	0	0	0	0	32	152				
TUBAL3	79861	broad.mit.edu	37	10	5435546	5435546	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:5435546G>C	ENST00000380419.3	-	4	1312	c.1275C>G	c.(1273-1275)ttC>ttG	p.F425L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.F385L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	425					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TGGCCTCCAAGAACTCTGCTT	0.532																																						uc001ihy.2		NA																	0				skin(1)	1						c.(1273-1275)TTC>TTG		tubulin, alpha-like 3							87.0	85.0	85.0					10																	5435546		2203	4300	6503	SO:0001583	missense	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5435546G>C	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.1275C>G	10.37:g.5435546G>C	ENSP00000369784:p.Phe425Leu					TUBAL3_uc001ihz.2_Missense_Mutation_p.F385L	p.F425L	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN			4	1315	-			425					B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	c.1275C>G	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073920	0.55646	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	D;D	0.86694	-2.16;-2.16	4.3	0.169	0.15017	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.56097	D	0.000033	D	0.91492	0.7314	M	0.79693	2.465	0.38873	D	0.956737	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.971	D	0.89885	0.4033	10	0.87932	D	0	.	8.0504	0.30575	0.3977:0.0:0.6023:0.0	.	385;425	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	L	425;385	ENSP00000369784:F425L;ENSP00000418799:F385L	ENSP00000369784:F425L	F	-	3	2	TUBAL3	5425546	0.999000	0.42202	0.091000	0.20842	0.584000	0.36387	1.878000	0.39608	0.137000	0.18759	0.650000	0.86243	TTC		0.532	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		12	92	0	0	0	0	12	92				
TUBAL3	79861	broad.mit.edu	37	10	5437411	5437411	+	Missense_Mutation	SNP	G	G	A	rs371530868		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:5437411G>A	ENST00000380419.3	-	3	312	c.275C>T	c.(274-276)tCa>tTa	p.S92L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.S52L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	92					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTGGAAGAGTGAACGGTGCTG	0.592																																						uc001ihy.2		NA																	0				skin(1)	1						c.(274-276)TCA>TTA		tubulin, alpha-like 3		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	141.0	139.0	140.0		275,155	3.2	0.5	10		140	0,8600		0,0,4300	no	missense,missense	TUBAL3	NM_024803.2,NM_001171864.1	145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	92/447,52/407	5437411	1,13005	2203	4300	6503	SO:0001583	missense	79861				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:5437411G>A	AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.275C>T	10.37:g.5437411G>A	ENSP00000369784:p.Ser92Leu					TUBAL3_uc001ihz.2_Missense_Mutation_p.S52L	p.S92L	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN			3	315	-			92					B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	c.275C>T	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678417	0.29783	2.27E-4	0.0	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.70516	-0.49;-0.49	4.09	3.18	0.36537	Tubulin/FtsZ, GTPase domain (4);	0.660419	0.12622	N	0.452951	T	0.64450	0.2599	L	0.54965	1.715	0.31619	N	0.650534	B;B	0.28584	0.216;0.045	B;B	0.28139	0.086;0.062	T	0.67941	-0.5540	10	0.87932	D	0	.	8.2086	0.31471	0.0936:0.1589:0.7475:0.0	.	52;92	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	L	92;52	ENSP00000369784:S92L;ENSP00000418799:S52L	ENSP00000369784:S92L	S	-	2	0	TUBAL3	5427411	0.000000	0.05858	0.469000	0.27204	0.264000	0.26372	0.607000	0.24209	1.029000	0.39812	0.563000	0.77884	TCA		0.592	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2	NM_024803		32	225	0	0	0	0	32	225				
STAM	8027	broad.mit.edu	37	10	17730107	17730107	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:17730107C>G	ENST00000377524.3	+	5	594	c.379C>G	c.(379-381)Cta>Gta	p.L127V	STAM_ENST00000540523.1_Missense_Mutation_p.L16V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	127	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						ACAGCTTAGTCTAATATCAGC	0.363																																						uc001ipj.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(379-381)CTA>GTA		signal transducing adaptor molecule 1							150.0	150.0	150.0					10																	17730107		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17730107C>G	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.379C>G	10.37:g.17730107C>G	ENSP00000366746:p.Leu127Val					STAM_uc010qcf.1_Missense_Mutation_p.L16V	p.L127V	NM_003473	NP_003464	Q92783	STAM1_HUMAN			5	595	+			127			VHS.		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.379C>G	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570846	0.65765	.	.	ENSG00000136738	ENST00000377524;ENST00000445846;ENST00000377500;ENST00000540523	T;T	0.23552	2.0;1.9	5.83	2.83	0.33086	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.072415	0.56097	D	0.000021	T	0.37237	0.0996	L	0.42744	1.35	0.80722	D	1	D	0.60575	0.988	D	0.70935	0.971	T	0.06917	-1.0800	10	0.87932	D	0	-14.6416	7.6768	0.28490	0.0:0.5042:0.0:0.4958	.	127	Q92783	STAM1_HUMAN	V	127;77;30;16	ENSP00000366746:L127V;ENSP00000438073:L16V	ENSP00000366721:L30V	L	+	1	2	STAM	17770113	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	2.201000	0.42734	0.311000	0.23014	-0.229000	0.12294	CTA		0.363	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		11	256	0	0	0	0	11	256				
PTCHD3	374308	broad.mit.edu	37	10	27700799	27700799	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:27700799C>T	ENST00000438700.3	-	2	1266	c.1149G>A	c.(1147-1149)gtG>gtA	p.V383V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	383	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ACACAGGGATCACAGTCACAG	0.358																																						uc001itu.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1147-1149)GTG>GTA		patched domain containing 3							83.0	76.0	78.0					10																	27700799		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27700799C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.1149G>A	10.37:g.27700799C>T							p.V383V	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			2	1267	-			383			SSD.|Helical; (Potential).		I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.1149G>A	CCDS31173.1																																																																																				0.358	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		10	58	0	0	0	0	10	58				
KIAA1279	26128	broad.mit.edu	37	10	70748834	70748834	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:70748834G>C	ENST00000361983.4	+	1	348	c.246G>C	c.(244-246)gaG>gaC	p.E82D		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	82					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AGGTGGTGGAGCCCGAGGGGC	0.731																																						uc001joy.2		NA																	0				ovary(1)	1						c.(244-246)GAG>GAC		KIF1 binding protein							19.0	24.0	22.0					10																	70748834		2198	4288	6486	SO:0001583	missense	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70748834G>C	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.246G>C	10.37:g.70748834G>C	ENSP00000354848:p.Glu82Asp						p.E82D	NM_015634	NP_056449	Q96EK5	KBP_HUMAN			1	342	+			82					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	c.246G>C	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.724406	0.30593	.	.	ENSG00000198954	ENST00000361983	T	0.44482	0.92	5.58	4.67	0.58626	.	0.476027	0.24625	N	0.036930	T	0.33177	0.0854	L	0.36672	1.1	0.35841	D	0.826036	B	0.02656	0.0	B	0.04013	0.001	T	0.30534	-0.9975	10	0.17832	T	0.49	-16.4378	14.7785	0.69749	0.0:0.1449:0.8551:0.0	.	82	Q96EK5	KBP_HUMAN	D	82	ENSP00000354848:E82D	ENSP00000354848:E82D	E	+	3	2	KIAA1279	70418840	1.000000	0.71417	0.999000	0.59377	0.191000	0.23601	1.704000	0.37857	1.462000	0.47948	0.650000	0.86243	GAG		0.731	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		3	46	0	0	0	0	3	46				
KIAA1279	26128	broad.mit.edu	37	10	70775627	70775627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:70775627G>T	ENST00000361983.4	+	7	1423	c.1321G>T	c.(1321-1323)Gag>Tag	p.E441*		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	441					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AACTGACATGGAGAGACGGTG	0.433																																						uc001joy.2		NA																	0				ovary(1)	1						c.(1321-1323)GAG>TAG		KIF1 binding protein							125.0	109.0	114.0					10																	70775627		2203	4300	6503	SO:0001587	stop_gained	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70775627G>T	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1321G>T	10.37:g.70775627G>T	ENSP00000354848:p.Glu441*						p.E441*	NM_015634	NP_056449	Q96EK5	KBP_HUMAN			7	1417	+			441					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Nonsense_Mutation	SNP	ENST00000361983.4	37	c.1321G>T	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	G	37	6.287203	0.97444	.	.	ENSG00000198954	ENST00000361983	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-14.3554	20.0572	0.97657	0.0:0.0:1.0:0.0	.	.	.	.	X	441	.	ENSP00000354848:E441X	E	+	1	0	KIAA1279	70445633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.777000	0.99008	2.826000	0.97356	0.655000	0.94253	GAG		0.433	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		64	127	1	0	6.56e-45	7.35e-45	64	127				
SEC24C	9632	broad.mit.edu	37	10	75529650	75529650	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:75529650G>T	ENST00000339365.2	+	21	2901	c.2739G>T	c.(2737-2739)aaG>aaT	p.K913N	SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.K913N|SEC24C_ENST00000411652.2_Missense_Mutation_p.K794N|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000535742.1_Missense_Mutation_p.K161N|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000540668.1_Missense_Mutation_p.K161N	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	913					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)	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)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTGTGTTGAAGAGTGATGTCC	0.463																																						uc001juw.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2737-2739)AAG>AAT		SEC24-related protein C							242.0	187.0	206.0					10																	75529650		2203	4300	6503	SO:0001583	missense	9632				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	protein binding|zinc ion binding	g.chr10:75529650G>T	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2739G>T	10.37:g.75529650G>T	ENSP00000343405:p.Lys913Asn					SEC24C_uc001jux.2_Missense_Mutation_p.K913N|SEC24C_uc010qko.1_Missense_Mutation_p.K794N|SEC24C_uc010qkp.1_Missense_Mutation_p.K161N|SEC24C_uc010qkq.1_Missense_Mutation_p.K161N|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.2_5'Flank	p.K913N	NM_004922	NP_004913	P53992	SC24C_HUMAN			21	2918	+	Prostate(51;0.0112)		913					B4DZT4|Q8WV25	Missense_Mutation	SNP	ENST00000339365.2	37	c.2739G>T	CCDS7332.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070022	0.55539	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47	5.37	4.46	0.54185	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.96393	0.8823	M	0.83953	2.67	0.80722	D	1	D;D	0.65815	0.969;0.995	P;D	0.63957	0.745;0.92	D	0.95944	0.8949	10	0.72032	D	0.01	-2.5889	8.3391	0.32232	0.2354:0.0:0.7646:0.0	.	794;913	E7EP00;P53992	.;SC24C_HUMAN	N	161;913;161;913;794	ENSP00000446174:K161N;ENSP00000321845:K913N;ENSP00000445023:K161N;ENSP00000343405:K913N;ENSP00000402913:K794N	ENSP00000343405:K913N	K	+	3	2	SEC24C	75199656	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.128000	0.57951	1.263000	0.44181	0.491000	0.48974	AAG		0.463	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1			46	266	1	0	1.57e-16	1.72e-16	46	266				
POLR3A	11128	broad.mit.edu	37	10	79753020	79753020	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:79753020C>G	ENST00000372371.3	-	20	2859	c.2722G>C	c.(2722-2724)Gat>Cat	p.D908H		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	908					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCTGCAGGATCTAAGCCATCT	0.413																																						uc001jzn.2		NA																	0					0						c.(2722-2724)GAT>CAT		polymerase (RNA) III (DNA directed) polypeptide							132.0	128.0	129.0					10																	79753020		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79753020C>G	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2722G>C	10.37:g.79753020C>G	ENSP00000361446:p.Asp908His						p.D908H	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		20	2816	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		908					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.2722G>C	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132558	0.94473	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.75050	-0.9	5.87	5.87	0.94306	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94434	0.7652	9	.	.	.	-31.7333	20.5827	0.99408	0.0:1.0:0.0:0.0	.	908	O14802	RPC1_HUMAN	H	908	ENSP00000361446:D908H	.	D	-	1	0	POLR3A	79423026	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GAT		0.413	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		19	228	0	0	0	0	19	228				
LRIT2	340745	broad.mit.edu	37	10	85982250	85982250	+	Missense_Mutation	SNP	G	G	C	rs201652904	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:85982250G>C	ENST00000372113.4	-	3	1084	c.1079C>G	c.(1078-1080)tCg>tGg	p.S360W	LRIT2_ENST00000538192.1_Missense_Mutation_p.S370W	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	360						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATTGCCCTCCGAGGGGATGGA	0.552																																						uc001kcy.2		NA																	0				ovary(2)	2						c.(1078-1080)TCG>TGG		leucine rich repeat containing 22 precursor							88.0	75.0	80.0					10																	85982250		2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85982250G>C		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1079C>G	10.37:g.85982250G>C	ENSP00000361185:p.Ser360Trp					LRIT2_uc010qmc.1_Missense_Mutation_p.S370W	p.S360W	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			3	1087	-			360					B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.1079C>G	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405148	0.25378	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.61859	0.46;0.07	4.89	-3.48	0.04739	.	0.785040	0.11696	N	0.538374	T	0.50514	0.1620	N	0.24115	0.695	0.20489	N	0.999891	D;D	0.69078	0.997;0.997	P;P	0.57776	0.827;0.827	T	0.49273	-0.8957	10	0.72032	D	0.01	.	6.7514	0.23489	0.2722:0.3145:0.4133:0.0	.	370;360	B7ZME6;A6NDA9	.;LRIT2_HUMAN	W	360;370	ENSP00000361185:S360W;ENSP00000438264:S370W	ENSP00000361185:S360W	S	-	2	0	LRIT2	85972230	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	1.096000	0.30976	-0.621000	0.05633	-1.113000	0.02065	TCG		0.552	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		3	61	0	0	0	0	3	61				
WAPAL	23063	broad.mit.edu	37	10	88260338	88260338	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:88260338G>A	ENST00000298767.5	-	3	1134	c.662C>T	c.(661-663)tCa>tTa	p.S221L		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	221	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCTGATGGTGATTCTGGCCT	0.373																																						uc001kdo.2		NA																	0				ovary(1)	1						c.(661-663)TCA>TTA		wings apart-like homolog							186.0	187.0	187.0					10																	88260338		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88260338G>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.662C>T	10.37:g.88260338G>A	ENSP00000298767:p.Ser221Leu					WAPAL_uc001kdn.2_Missense_Mutation_p.S264L|WAPAL_uc009xsw.2_Missense_Mutation_p.S221L	p.S221L	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			3	1104	-			221			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.662C>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599326	0.66332	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.55413	0.52	5.93	5.93	0.95920	.	0.535909	0.20516	N	0.090785	T	0.50240	0.1604	L	0.53249	1.67	0.80722	D	1	B;B;B	0.15930	0.009;0.009;0.015	B;B;B	0.16722	0.005;0.005;0.016	T	0.39663	-0.9603	10	0.41790	T	0.15	.	14.4934	0.67667	0.0698:0.0:0.9302:0.0	.	221;221;264	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	L	306;221;306	ENSP00000298767:S221L	ENSP00000298767:S221L	S	-	2	0	WAPAL	88250318	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	4.693000	0.61753	2.798000	0.96311	0.655000	0.94253	TCA		0.373	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		39	335	0	0	0	0	39	335				
RPP30	10556	broad.mit.edu	37	10	92655643	92655643	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:92655643G>C	ENST00000371703.3	+	9	857	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	RPP30_ENST00000413330.1_Missense_Mutation_p.E196Q|RPP30_ENST00000489806.1_3'UTR	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	196					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TCAGCCTTTAGAAATAAGAGG	0.274																																						uc009xtx.2		NA																	0					0						c.(586-588)GAA>CAA		ribonuclease P/MRP 30kDa subunit isoform b							72.0	78.0	76.0					10																	92655643		2203	4295	6498	SO:0001583	missense	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92655643G>C	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.586G>C	10.37:g.92655643G>C	ENSP00000360768:p.Glu196Gln					RPP30_uc001khd.2_Missense_Mutation_p.E196Q	p.E196Q	NM_006413	NP_006404	P78346	RPP30_HUMAN			9	621	+			196					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.586G>C	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625766	0.66901	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882;ENST00000414836	T;T;T	0.48522	0.83;0.81;0.86	5.79	5.79	0.91817	Polymerase/histidinol phosphatase-like (1);	0.045545	0.85682	D	0.000000	T	0.62950	0.2470	L	0.49256	1.55	0.52501	D	0.999955	D;D	0.76494	0.995;0.999	D;D	0.72982	0.951;0.979	T	0.63005	-0.6733	10	0.62326	D	0.03	-13.86	15.017	0.71594	0.0:0.143:0.857:0.0	.	196;196	P78346;E9PB02	RPP30_HUMAN;.	Q	196;196;186;218;140	ENSP00000360768:E196Q;ENSP00000389182:E196Q;ENSP00000277882:E218Q	ENSP00000277882:E218Q	E	+	1	0	RPP30	92645623	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.393000	0.59665	2.732000	0.93576	0.557000	0.71058	GAA		0.274	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		15	127	0	0	0	0	15	127				
RPEL1	729020	broad.mit.edu	37	10	105006203	105006203	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr10:105006203G>A	ENST00000441178.2	+	1	560	c.450G>A	c.(448-450)caG>caA	p.Q150Q		NM_001143909.1	NP_001137381.1																					TTGGAGAGCAGAAATTCATGG	0.473																																						uc009xxi.2		NA																	0					0						c.(448-450)CAG>CAA		rcRPE protein							172.0	147.0	155.0					10																	105006203		692	1591	2283	SO:0001819	synonymous_variant	729020				carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity	g.chr10:105006203G>A																												ENST00000441178.2:c.450G>A	10.37:g.105006203G>A						uc001kwr.2_Intron	p.Q150Q	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN			1	560	+			150						Silent	SNP	ENST00000441178.2	37	c.450G>A																																																																																					0.473	RP11-332O19.5-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050120.2			15	123	0	0	0	0	15	123				
PHRF1	57661	broad.mit.edu	37	11	607897	607897	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:607897C>T	ENST00000264555.5	+	14	2569	c.2441C>T	c.(2440-2442)tCa>tTa	p.S814L	PHRF1_ENST00000533464.1_Missense_Mutation_p.S810L|PHRF1_ENST00000416188.2_Missense_Mutation_p.S813L|PHRF1_ENST00000413872.2_Missense_Mutation_p.S812L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	814					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						GAGAACCCCTCACCCCTCTTC	0.617																																						uc001lqe.2		NA																	0					0						c.(2440-2442)TCA>TTA		PHD and ring finger domains 1							65.0	75.0	72.0					11																	607897		2031	4166	6197	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:607897C>T	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.2441C>T	11.37:g.607897C>T	ENSP00000264555:p.Ser814Leu					PHRF1_uc010qwc.1_Missense_Mutation_p.S813L|PHRF1_uc010qwd.1_Missense_Mutation_p.S812L|PHRF1_uc010qwe.1_Missense_Mutation_p.S810L|PHRF1_uc009ybz.1_Missense_Mutation_p.S604L|PHRF1_uc009yca.1_RNA	p.S814L	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	2572	+			814					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2441C>T		.	.	.	.	.	.	.	.	.	.	C	10.34	1.322597	0.23994	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.80033	-1.32;-1.33;-1.33;-1.32	4.55	2.65	0.31530	.	0.734110	0.11161	N	0.593041	T	0.70185	0.3195	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.33171	0.278;0.4;0.4;0.278	B;B;B;B	0.30855	0.057;0.121;0.121;0.057	T	0.54669	-0.8259	10	0.28530	T	0.3	-2.0377	8.4883	0.33084	0.0:0.7589:0.0:0.2411	.	810;812;813;814	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	L	814;812;813;810	ENSP00000264555:S814L;ENSP00000388589:S812L;ENSP00000410626:S813L;ENSP00000431870:S810L	ENSP00000264555:S814L	S	+	2	0	PHRF1	597897	0.000000	0.05858	0.000000	0.03702	0.195000	0.23768	0.901000	0.28445	0.526000	0.28541	0.555000	0.69702	TCA		0.617	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		8	145	0	0	0	0	8	145				
DEAF1	10522	broad.mit.edu	37	11	687928	687928	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:687928T>A	ENST00000382409.3	-	4	1131	c.647A>T	c.(646-648)aAg>aTg	p.K216M	DEAF1_ENST00000338675.6_Missense_Mutation_p.K216M	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	216	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GAGCCTGTTCTTGTACAGAGT	0.522																																						uc001lqq.1		NA																	0					0						c.(646-648)AAG>ATG		deformed epidermal autoregulatory factor 1							77.0	72.0	74.0					11																	687928		2203	4300	6503	SO:0001583	missense	10522				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding	g.chr11:687928T>A	AF049460	CCDS31327.1	11p15.5	2013-01-10	2013-01-10		ENSG00000177030	ENSG00000177030		"""Zinc fingers, MYND-type"""	14677	protein-coding gene	gene with protein product		602635	"""deformed epidermal autoregulatory factor 1 (Drosophila)"""			9773984	Standard	XR_428838		Approved	NUDR, SPN, ZMYND5	uc001lqq.1	O75398	OTTHUMG00000165363	ENST00000382409.3:c.647A>T	11.37:g.687928T>A	ENSP00000371846:p.Lys216Met					DEAF1_uc009ycf.1_RNA	p.K216M	NM_021008	NP_066288	O75398	DEAF1_HUMAN		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)	4	1340	-		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	216			SAND.		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000382409.3	37	c.647A>T	CCDS31327.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213252	0.79352	.	.	ENSG00000177030	ENST00000382409;ENST00000338675;ENST00000359958;ENST00000388804	T;T	0.73469	-0.75;-0.15	4.77	4.77	0.60923	SAND domain-like (2);SAND domain (3);	0.000000	0.85682	D	0.000000	D	0.87912	0.6297	M	0.90198	3.095	0.41136	D	0.985925	D	0.89917	1.0	D	0.91635	0.999	D	0.90280	0.4314	10	0.62326	D	0.03	-38.0845	13.5915	0.61964	0.0:0.0:0.0:1.0	.	216	O75398	DEAF1_HUMAN	M	216;216;202;139	ENSP00000371846:K216M;ENSP00000341902:K216M	ENSP00000341902:K216M	K	-	2	0	DEAF1	677928	1.000000	0.71417	0.994000	0.49952	0.819000	0.46315	7.750000	0.85110	1.904000	0.55121	0.533000	0.62120	AAG		0.522	DEAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383614.3	NM_021008		17	84	0	0	0	0	17	84				
TRPM5	29850	broad.mit.edu	37	11	2434782	2434782	+	Missense_Mutation	SNP	C	C	T	rs367610086		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:2434782C>T	ENST00000155858.6	-	13	1935	c.1927G>A	c.(1927-1929)Gca>Aca	p.A643T	TRPM5_ENST00000452833.1_Missense_Mutation_p.A645T|TRPM5_ENST00000528453.1_Missense_Mutation_p.A643T|TRPM5_ENST00000533060.1_Missense_Mutation_p.A643T	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCGTGCCTGCGGCCATGTCC	0.647																																					NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1927-1929)GCA>ACA		transient receptor potential cation channel,		C	THR/ALA	0,4404		0,0,2202	54.0	54.0	54.0		1927	-3.7	0.0	11		54	2,8596	2.2+/-6.3	0,2,4297	no	missense	TRPM5	NM_014555.3	58	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	benign	643/1166	2434782	2,13000	2202	4299	6501	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2434782C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1927G>A	11.37:g.2434782C>T	ENSP00000155858:p.Ala643Thr					TRPM5_uc010qxl.1_Missense_Mutation_p.A643T|TRPM5_uc009ydn.2_Missense_Mutation_p.A645T	p.A643T	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	13	1936	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	643			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000155858.6	37	c.1927G>A	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.750901	0.00663	0.0	2.33E-4	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	3.97	-3.73	0.04398	.	0.141960	0.45361	N	0.000370	T	0.13500	0.0327	N	0.00289	-1.7	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.40997	-0.9533	10	0.02654	T	1	-6.3541	1.9337	0.03332	0.1707:0.3919:0.131:0.3064	.	643;645;643	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	T	637;643;645;643;643;643	ENSP00000434383:A637T;ENSP00000155858:A643T;ENSP00000387965:A645T;ENSP00000434121:A643T;ENSP00000436809:A643T	ENSP00000155858:A643T	A	-	1	0	TRPM5	2391358	0.002000	0.14202	0.034000	0.17996	0.079000	0.17450	0.278000	0.18753	-0.660000	0.05352	0.313000	0.20887	GCA		0.647	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		6	31	0	0	0	0	6	31				
OR51T1	401665	broad.mit.edu	37	11	4904108	4904108	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:4904108G>A	ENST00000322049.1	+	1	979	c.979G>A	c.(979-981)Gat>Aat	p.D327N	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.D354N|MMP26_ENST00000477339.1_Intron			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	327						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGATGGGATTGAAGGTA	0.468																																						uc010qyp.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(1060-1062)GAT>AAT		olfactory receptor, family 51, subfamily T,							49.0	49.0	49.0					11																	4904108		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4904108G>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.979G>A	11.37:g.4904108G>A	ENSP00000322679:p.Asp327Asn						p.D354N	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	1060	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	327			Cytoplasmic (Potential).		Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.1060G>A		.	.	.	.	.	.	.	.	.	.	G	9.176	1.022491	0.19433	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.01178	5.22;5.32	4.67	-3.54	0.04653	.	.	.	.	.	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47548	-0.9109	9	0.87932	D	0	.	2.1101	0.03701	0.375:0.1192:0.3841:0.1217	.	327	Q8NGJ9	O51T1_HUMAN	N	354;327	ENSP00000369738:D354N;ENSP00000322679:D327N	ENSP00000322679:D327N	D	+	1	0	OR51T1	4860684	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.153000	0.10144	-0.846000	0.04174	-1.478000	0.00992	GAT		0.468	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		13	84	0	0	0	0	13	84				
OR51L1	119682	broad.mit.edu	37	11	5020494	5020494	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:5020494C>T	ENST00000321543.1	+	1	282	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	94						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)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCAGAGATCCAGGCAAGTG	0.478																																						uc010qyu.1		NA																	0				skin(1)	1						c.(280-282)ATC>ATT		olfactory receptor, family 51, subfamily L,							239.0	182.0	201.0					11																	5020494		2201	4298	6499	SO:0001819	synonymous_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020494C>T	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.282C>T	11.37:g.5020494C>T							p.I94I	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	282	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	94			Extracellular (Potential).		Q6IFE5	Silent	SNP	ENST00000321543.1	37	c.282C>T	CCDS31369.1																																																																																				0.478	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		98	192	0	0	0	0	98	192				
SWAP70	23075	broad.mit.edu	37	11	9735026	9735026	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:9735026T>C	ENST00000318950.6	+	3	357	c.254T>C	c.(253-255)tTt>tCt	p.F85S	SWAP70_ENST00000447399.2_Intron	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	85					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		CAAGACAACTTTGACAAGATT	0.358																																						uc001mhw.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(253-255)TTT>TCT		SWAP-70 protein							70.0	71.0	71.0					11																	9735026		2201	4294	6495	SO:0001583	missense	23075					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding	g.chr11:9735026T>C	AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.254T>C	11.37:g.9735026T>C	ENSP00000315630:p.Phe85Ser					SWAP70_uc001mhv.2_Missense_Mutation_p.F85S|SWAP70_uc001mhx.2_Intron	p.F85S	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN		all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)	3	353	+			85					D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	ENST00000318950.6	37	c.254T>C	CCDS31426.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.638658	0.87760	.	.	ENSG00000133789	ENST00000318950	T	0.07567	3.18	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.79926	2.475	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.06463	-1.0825	10	0.87932	D	0	-13.4908	15.8818	0.79208	0.0:0.0:0.0:1.0	.	85	Q9UH65	SWP70_HUMAN	S	85	ENSP00000315630:F85S	ENSP00000315630:F85S	F	+	2	0	SWAP70	9691602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.689000	0.84165	2.158000	0.67659	0.528000	0.53228	TTT		0.358	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386766.2	NM_015055		47	86	0	0	0	0	47	86				
MRGPRX2	117194	broad.mit.edu	37	11	19077743	19077743	+	Silent	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:19077743G>T	ENST00000329773.2	-	2	294	c.207C>A	c.(205-207)ctC>ctA	p.L69L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	69					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CGGCCAGGCTGAGGACGTAGA	0.537																																					GBM(198;1966 2199 4849 37227 49954)	uc001mph.2		NA																	0				ovary(1)	1						c.(205-207)CTC>CTA		MAS-related GPR, member X2							85.0	93.0	90.0					11																	19077743		2199	4293	6492	SO:0001819	synonymous_variant	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077743G>T		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.207C>A	11.37:g.19077743G>T							p.L69L	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			2	295	-			69			Helical; Name=2; (Potential).		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Silent	SNP	ENST00000329773.2	37	c.207C>A	CCDS7847.1																																																																																				0.537	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		13	123	1	0	6.32e-08	6.74e-08	13	123				
CCDC73	493860	broad.mit.edu	37	11	32675537	32675537	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:32675537T>G	ENST00000335185.5	-	11	864	c.821A>C	c.(820-822)cAa>cCa	p.Q274P	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	274										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTTTCTTCTTGAATATGGGT	0.259																																						uc001mtv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(820-822)CAA>CCA		sarcoma antigen NY-SAR-79							78.0	73.0	74.0					11																	32675537		1783	4047	5830	SO:0001583	missense	493860							g.chr11:32675537T>G	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.821A>C	11.37:g.32675537T>G	ENSP00000335325:p.Gln274Pro					CCDC73_uc001mtw.1_Missense_Mutation_p.Q274P	p.Q274P	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			11	865	-	Breast(20;0.112)		274			Potential.		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	c.821A>C	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579548	0.46006	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.94	5.94	0.96194	.	0.177455	0.39341	N	0.001395	T	0.76126	0.3944	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.71656	0.801;0.974	T	0.78306	-0.2255	9	0.72032	D	0.01	.	14.6374	0.68699	0.0:0.0:0.0:1.0	.	274;274	Q6ZRK6-2;Q6ZRK6	.;CCD73_HUMAN	P	274	.	ENSP00000335325:Q274P	Q	-	2	0	CCDC73	32632113	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	1.561000	0.36342	2.275000	0.75901	0.528000	0.53228	CAA		0.259	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		12	25	0	0	0	0	12	25				
TTC17	55761	broad.mit.edu	37	11	43419614	43419614	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:43419614G>A	ENST00000039989.4	+	8	1023	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	TTC17_ENST00000526774.1_3'UTR|RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.A337T	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	337					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GAGGAAGCATGCTGTCCTATG	0.453																																						uc001mxi.2		NA																	0				ovary(5)	5						c.(1009-1011)GCT>ACT		tetratricopeptide repeat domain 17							154.0	137.0	143.0					11																	43419614		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43419614G>A	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1009G>A	11.37:g.43419614G>A	ENSP00000039989:p.Ala337Thr					TTC17_uc001mxh.2_Missense_Mutation_p.A337T|TTC17_uc010rfj.1_Missense_Mutation_p.A280T|TTC17_uc001mxj.2_Missense_Mutation_p.A107T	p.A337T	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			8	1023	+			337					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.1009G>A	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386232	0.95967	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.53857	0.6;0.6	6.02	6.02	0.97574	.	0.044280	0.85682	D	0.000000	T	0.71290	0.3322	M	0.64997	1.995	0.58432	D	0.999999	D;B;D	0.76494	0.998;0.245;0.999	D;B;D	0.70016	0.928;0.052;0.967	T	0.66376	-0.5939	10	0.39692	T	0.17	-13.1684	20.5407	0.99260	0.0:0.0:1.0:0.0	.	337;337;337	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	T	337	ENSP00000299240:A337T;ENSP00000039989:A337T	ENSP00000039989:A337T	A	+	1	0	TTC17	43376190	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.585000	0.82584	2.865000	0.98341	0.655000	0.94253	GCT		0.453	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		31	74	0	0	0	0	31	74				
AHNAK	79026	broad.mit.edu	37	11	62286923	62286923	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:62286923G>C	ENST00000378024.4	-	5	15240	c.14966C>G	c.(14965-14967)gCt>gGt	p.A4989G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4989					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGATGTCAGCTTTGGGGCT	0.453																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(14965-14967)GCT>GGT		AHNAK nucleoprotein isoform 1							89.0	95.0	93.0					11																	62286923		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62286923G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14966C>G	11.37:g.62286923G>C	ENSP00000367263:p.Ala4989Gly					AHNAK_uc001ntk.1_Intron	p.A4989G	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	15266	-		Melanoma(852;0.155)	4989					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.14966C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.713744	0.48622	.	.	ENSG00000124942	ENST00000378024	T	0.01092	5.35	4.39	4.39	0.52855	.	0.000000	0.43110	D	0.000617	T	0.03959	0.0111	L	0.42744	1.35	0.31542	N	0.659836	D	0.67145	0.996	D	0.81914	0.995	T	0.50499	-0.8821	10	0.18276	T	0.48	.	16.92	0.86161	0.0:0.0:1.0:0.0	.	4989	Q09666	AHNK_HUMAN	G	4989	ENSP00000367263:A4989G	ENSP00000367263:A4989G	A	-	2	0	AHNAK	62043499	0.003000	0.15002	1.000000	0.80357	0.965000	0.64279	0.647000	0.24812	2.173000	0.68751	0.478000	0.44815	GCT		0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		12	203	0	0	0	0	12	203				
SLC3A2	6520	broad.mit.edu	37	11	62656097	62656097	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:62656097C>G	ENST00000377890.2	+	12	1993	c.1825C>G	c.(1825-1827)Ctt>Gtt	p.L609V	SLC3A2_ENST00000338663.7_Missense_Mutation_p.L508V|SLC3A2_ENST00000536981.1_Missense_Mutation_p.L154V|SLC3A2_ENST00000377892.1_Missense_Mutation_p.L640V|SLC3A2_ENST00000535296.1_Missense_Mutation_p.L578V|SLC3A2_ENST00000377891.2_Missense_Mutation_p.L610V|SLC3A2_ENST00000377889.2_Missense_Mutation_p.L547V	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	609				L -> P (in Ref. 4; AAA35536). {ECO:0000305}.	amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GGGCTCCCCTCTTGAGCTGGA	0.667																																						uc001nwd.2		NA																	0					0						c.(1825-1827)CTT>GTT		solute carrier family 3, member 2 isoform c							48.0	51.0	50.0					11																	62656097		2201	4298	6499	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62656097C>G		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1825C>G	11.37:g.62656097C>G	ENSP00000367122:p.Leu609Val					SLC3A2_uc001nwb.2_Missense_Mutation_p.L640V|SLC3A2_uc001nwc.2_Missense_Mutation_p.L610V|SLC3A2_uc001nwe.2_Missense_Mutation_p.L578V|SLC3A2_uc001nwf.2_Missense_Mutation_p.L547V|SLC3A2_uc001nwg.2_Missense_Mutation_p.L508V	p.L609V	NM_002394	NP_002385	P08195	4F2_HUMAN			12	2049	+			609	L -> P (in Ref. 4; AAA35536).		Extracellular (Potential).		Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.1825C>G	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.511807	0.00984	.	.	ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000338663;ENST00000422606;ENST00000536981	D;D;D;D;D;D;D	0.97976	-4.62;-4.62;-4.64;-4.62;-4.62;-4.61;-3.28	5.17	2.08	0.27032	Glycosyl hydrolase, family 13, all-beta (1);	0.509440	0.19951	N	0.102424	D	0.89787	0.6816	N	0.12637	0.245	0.09310	N	1	B;B;B;B;B	0.11235	0.004;0.001;0.001;0.0;0.003	B;B;B;B;B	0.11329	0.006;0.003;0.001;0.002;0.006	T	0.79212	-0.1896	10	0.02654	T	1	-5.3276	3.2534	0.06823	0.1803:0.5505:0.1745:0.0947	.	547;578;609;508;640	P08195-3;F5GZS6;P08195;P08195-2;P08195-4	.;.;4F2_HUMAN;.;.	V	640;610;609;610;547;578;508;490;154	ENSP00000367124:L640V;ENSP00000367123:L610V;ENSP00000367122:L609V;ENSP00000367121:L547V;ENSP00000444236:L578V;ENSP00000340815:L508V;ENSP00000444439:L154V	ENSP00000340815:L508V	L	+	1	0	SLC3A2	62412673	0.013000	0.17824	0.006000	0.13384	0.531000	0.34715	0.008000	0.13197	0.579000	0.29504	0.551000	0.68910	CTT		0.667	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		63	119	0	0	0	0	63	119				
PPFIA1	8500	broad.mit.edu	37	11	70170534	70170534	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:70170534C>T	ENST00000253925.7	+	3	506	c.291C>T	c.(289-291)ctC>ctT	p.L97L	PPFIA1_ENST00000389547.3_Silent_p.L97L|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	97					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTAAAGAACTCAATGTATGCA	0.403																																						uc001opo.2		NA																	0				lung(2)|ovary(1)	3						c.(289-291)CTC>CTT		PTPRF interacting protein alpha 1 isoform b							120.0	122.0	122.0					11																	70170534		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70170534C>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.291C>T	11.37:g.70170534C>T						PPFIA1_uc001opn.1_Silent_p.L97L|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank	p.L97L	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		3	489	+			97			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.291C>T	CCDS31627.1																																																																																				0.403	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		20	341	0	0	0	0	20	341				
EED	8726	broad.mit.edu	37	11	85979511	85979511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:85979511C>T	ENST00000263360.6	+	9	1560	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	EED_ENST00000327320.4_Nonsense_Mutation_p.Q292*|EED_ENST00000528180.1_Intron|EED_ENST00000351625.6_Nonsense_Mutation_p.Q292*	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	292	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ATTTATTTCTCAGAAAATCCA	0.299																																						uc001pbp.2		NA																	0				skin(1)|pancreas(1)	2						c.(874-876)CAG>TAG		embryonic ectoderm development isoform a							144.0	144.0	144.0					11																	85979511		2201	4299	6500	SO:0001587	stop_gained	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85979511C>T	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.874C>T	11.37:g.85979511C>T	ENSP00000263360:p.Gln292*					EED_uc010rtm.1_Nonsense_Mutation_p.Q292*|EED_uc001pbq.2_Nonsense_Mutation_p.Q292*|EED_uc001pbr.2_Nonsense_Mutation_p.Q292*|EED_uc001pbs.2_Intron|EED_uc010rtn.1_Intron	p.Q292*	NM_003797	NP_003788	O75530	EED_HUMAN			9	1331	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	292			Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Nonsense_Mutation	SNP	ENST00000263360.6	37	c.874C>T	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	C	53	20.291745	0.99929	.	.	ENSG00000074266	ENST00000263360;ENST00000351625;ENST00000327320;ENST00000533228;ENST00000534564	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.9529	19.6798	0.95958	0.0:1.0:0.0:0.0	.	.	.	.	X	292;292;292;85;41	.	.	Q	+	1	0	EED	85657159	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.658000	0.83755	2.733000	0.93635	0.467000	0.42956	CAG		0.299	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		71	71	0	0	0	0	71	71				
GRM5	2915	broad.mit.edu	37	11	88300894	88300894	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:88300894G>C	ENST00000305447.4	-	7	2106	c.1957C>G	c.(1957-1959)Ctc>Gtc	p.L653V	GRM5_ENST00000418177.2_Missense_Mutation_p.L653V|GRM5_ENST00000393297.1_Missense_Mutation_p.L653V|GRM5_ENST00000305432.5_Missense_Mutation_p.L653V|GRM5_ENST00000455756.2_Missense_Mutation_p.L653V	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	653					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GCTGGGGAGAGACCAATGCCA	0.493																																						uc001pcq.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(1957-1959)CTC>GTC		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						139.0	127.0	131.0					11																	88300894		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300894G>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1957C>G	11.37:g.88300894G>C	ENSP00000306138:p.Leu653Val					GRM5_uc009yvm.2_Missense_Mutation_p.L653V	p.L653V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			7	2157	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	653			Helical; Name=3; (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1957C>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697288	0.48202	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	5.71	5.71	0.89125	GPCR, family 3, C-terminal (2);	0.116059	0.64402	D	0.000016	D	0.89715	0.6795	N	0.16098	0.37	0.40435	D	0.979982	D;D	0.71674	0.998;0.987	D;P	0.77557	0.99;0.891	D	0.88879	0.3338	9	.	.	.	.	19.8631	0.96790	0.0:0.0:1.0:0.0	.	653;653	P41594-2;P41594	.;GRM5_HUMAN	V	653	ENSP00000402912:L653V;ENSP00000405690:L653V;ENSP00000305905:L653V;ENSP00000306138:L653V;ENSP00000376975:L653V	.	L	-	1	0	GRM5	87940542	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.702000	0.61817	2.709000	0.92574	0.655000	0.94253	CTC		0.493	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		16	12	0	0	0	0	16	12				
CBL	867	broad.mit.edu	37	11	119103214	119103214	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:119103214C>T	ENST00000264033.4	+	2	628	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	84	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CACCTTATATCTTAGACCTGC	0.428			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2		NA		"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					0				haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(250-252)ATC>ATT		Cas-Br-M (murine) ecotropic retroviral							80.0	78.0	79.0					11																	119103214		2199	4295	6494	SO:0001819	synonymous_variant	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119103214C>T	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.252C>T	11.37:g.119103214C>T							p.I84I	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	2	390	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	84			Cbl-PTB.|4H.		A3KMP8	Silent	SNP	ENST00000264033.4	37	c.252C>T	CCDS8418.1																																																																																				0.428	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		7	67	0	0	0	0	7	67				
TECTA	7007	broad.mit.edu	37	11	120998984	120998984	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:120998984G>A	ENST00000392793.1	+	9	2569	c.2298G>A	c.(2296-2298)ctG>ctA	p.L766L	TECTA_ENST00000264037.2_Silent_p.L766L			O75443	TECTA_HUMAN	tectorin alpha	766	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGCTTGGCTGCGGGGACTTC	0.587																																						uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(2296-2298)CTG>CTA		tectorin alpha precursor							47.0	55.0	52.0					11																	120998984		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998984G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2298G>A	11.37:g.120998984G>A							p.L766L	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	2298	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	766			VWFD 2.			Silent	SNP	ENST00000392793.1	37	c.2298G>A	CCDS8434.1																																																																																				0.587	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		21	63	0	0	0	0	21	63				
SLC6A13	6540	broad.mit.edu	37	12	351877	351877	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:351877G>C	ENST00000343164.4	-	4	433	c.381C>G	c.(379-381)gtC>gtG	p.V127V	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	127					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TGATGTAGTAGACGTTGAGGA	0.577																																						uc001qic.1		NA																	0					0						c.(379-381)GTC>GTG		solute carrier family 6 (neurotransmitter							120.0	81.0	94.0					12																	351877		2203	4300	6503	SO:0001819	synonymous_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:351877G>C	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.381C>G	12.37:g.351877G>C						SLC6A13_uc009zdj.1_Silent_p.V127V|SLC6A13_uc010sdl.1_Intron|SLC6A13_uc010sdm.1_Silent_p.V8V	p.V127V	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		4	434	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		127			Helical; Name=3; (Potential).		B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.381C>G	CCDS8502.1																																																																																				0.577	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		4	11	0	0	0	0	4	11				
CD163L1	283316	broad.mit.edu	37	12	7556331	7556331	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:7556331G>A	ENST00000313599.3	-	6	1265	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	CD163L1_ENST00000416109.2_Missense_Mutation_p.A413V|CD163L1_ENST00000396630.1_Missense_Mutation_p.A403V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	403	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AACCACAAGGGCTTGTTCATT	0.443																																						uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1207-1209)GCC>GTC		scavenger receptor cysteine-rich type 1							177.0	160.0	166.0					12																	7556331		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7556331G>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1208C>T	12.37:g.7556331G>A	ENSP00000315945:p.Ala403Val					CD163L1_uc010sge.1_Missense_Mutation_p.A413V	p.A403V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			6	1234	-			403			SRCR 4.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.1208C>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498538	0.44455	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000545926	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	2.08	-0.604	0.11626	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.43366	0.1244	M	0.78285	2.405	0.22354	N	0.999175	B;B	0.23937	0.094;0.015	B;B	0.20955	0.032;0.032	T	0.37572	-0.9700	9	0.35671	T	0.21	.	5.7687	0.18241	0.4276:0.0:0.5724:0.0	.	413;403	E7EVK4;Q9NR16	.;C163B_HUMAN	V	403;413;403;49	ENSP00000315945:A403V;ENSP00000393474:A413V;ENSP00000379871:A403V;ENSP00000439921:A49V	ENSP00000315945:A403V	A	-	2	0	CD163L1	7447598	0.002000	0.14202	0.001000	0.08648	0.014000	0.08584	0.129000	0.15830	-0.171000	0.10797	-0.251000	0.11542	GCC		0.443	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		86	137	0	0	0	0	86	137				
FOXJ2	55810	broad.mit.edu	37	12	8196363	8196363	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:8196363G>A	ENST00000162391.3	+	4	1620	c.475G>A	c.(475-477)Gat>Aat	p.D159N	FOXJ2_ENST00000428177.2_Missense_Mutation_p.D159N	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	159					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCAGATGATGATGTAAGTTC	0.493																																						uc001qtu.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(475-477)GAT>AAT		forkhead box J2							144.0	140.0	141.0					12																	8196363		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8196363G>A	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.475G>A	12.37:g.8196363G>A	ENSP00000162391:p.Asp159Asn					FOXJ2_uc001qtt.1_Missense_Mutation_p.D159N	p.D159N	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	4	1560	+			159					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.475G>A	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464987	0.43839	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94758	-3.33;-3.51	5.05	5.05	0.67936	.	.	.	.	.	D	0.88168	0.6364	N	0.08118	0	0.43417	D	0.995563	B;B	0.33512	0.415;0.361	B;B	0.37304	0.183;0.246	D	0.86836	0.2014	9	0.30078	T	0.28	.	13.9337	0.64012	0.0:0.0:1.0:0.0	.	159;159	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	N	159	ENSP00000162391:D159N;ENSP00000403411:D159N	ENSP00000162391:D159N	D	+	1	0	FOXJ2	8087630	1.000000	0.71417	0.993000	0.49108	0.775000	0.43874	6.802000	0.75175	2.346000	0.79739	0.561000	0.74099	GAT		0.493	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		19	268	0	0	0	0	19	268				
KLRG1	10219	broad.mit.edu	37	12	9161668	9161668	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:9161668C>T	ENST00000266551.4	+	4	470	c.455C>T	c.(454-456)tCa>tTa	p.S152L	KLRG1_ENST00000538029.1_3'UTR|KLRG1_ENST00000356986.3_Missense_Mutation_p.S152L	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	152	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTAAACTTCTCAAGGTAAGGG	0.443																																						uc001qvh.2		NA																	0				central_nervous_system(1)	1						c.(454-456)TCA>TTA		killer cell lectin-like receptor subfamily G,							67.0	66.0	66.0					12																	9161668		2203	4300	6503	SO:0001583	missense	10219				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding	g.chr12:9161668C>T	AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	6380	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member A"""	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.455C>T	12.37:g.9161668C>T	ENSP00000266551:p.Ser152Leu					KLRG1_uc001qvg.2_Missense_Mutation_p.S152L	p.S152L	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN			4	466	+			152			C-type lectin.|Extracellular (Potential).		B7ZAM2|O43198|O75613	Missense_Mutation	SNP	ENST00000266551.4	37	c.455C>T		.	.	.	.	.	.	.	.	.	.	C	16.03	3.006822	0.54361	.	.	ENSG00000139187	ENST00000539240;ENST00000356986;ENST00000266551;ENST00000543895	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	3.23	3.23	0.37069	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.478367	0.15818	N	0.243140	T	0.28067	0.0692	L	0.43701	1.375	0.27161	N	0.961171	D;D	0.76494	0.994;0.999	P;D	0.64776	0.729;0.929	T	0.02385	-1.1167	10	0.36615	T	0.2	-1.8217	10.2321	0.43260	0.0:1.0:0.0:0.0	.	152;152	Q96E93;Q96E93-2	KLRG1_HUMAN;.	L	73;152;152;73	ENSP00000445627:S73L;ENSP00000349477:S152L;ENSP00000266551:S152L;ENSP00000443658:S73L	ENSP00000266551:S152L	S	+	2	0	KLRG1	9052935	0.987000	0.35691	0.912000	0.35992	0.680000	0.39746	2.391000	0.44424	2.077000	0.62373	0.655000	0.94253	TCA		0.443	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810		18	24	0	0	0	0	18	24				
LRP6	4040	broad.mit.edu	37	12	12312019	12312019	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:12312019G>C	ENST00000261349.4	-	12	2611	c.2535C>G	c.(2533-2535)atC>atG	p.I845M	LRP6_ENST00000543091.1_Missense_Mutation_p.I845M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	845	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|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 transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCGTCCAGTAGATATAATCTT	0.483																																						uc001rah.3		NA																	0				lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(2533-2535)ATC>ATG		low density lipoprotein receptor-related protein							122.0	98.0	106.0					12																	12312019		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12312019G>C	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2535C>G	12.37:g.12312019G>C	ENSP00000261349:p.Ile845Met					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.I845M	p.I845M	NM_002336	NP_002327	O75581	LRP6_HUMAN			12	2677	-		Prostate(47;0.0865)	845			Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 15.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.2535C>G	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253460	0.59212	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.96554	-4.05;-4.05	5.78	4.86	0.63082	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000015	D	0.97232	0.9095	M	0.71206	2.165	0.58432	D	0.999999	D;D	0.69078	0.981;0.997	D;D	0.85130	0.997;0.997	D	0.95703	0.8751	10	0.36615	T	0.2	.	10.1197	0.42612	0.076:0.0:0.7864:0.1376	.	845;845	F5H7J9;O75581	.;LRP6_HUMAN	M	845	ENSP00000261349:I845M;ENSP00000442472:I845M	ENSP00000261349:I845M	I	-	3	3	LRP6	12203286	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.127000	0.50484	2.749000	0.94314	0.655000	0.94253	ATC		0.483	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			16	41	0	0	0	0	16	41				
ATF7IP	55729	broad.mit.edu	37	12	14649234	14649234	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:14649234G>A	ENST00000540793.1	+	13	3505	c.3350G>A	c.(3349-3351)gGa>gAa	p.G1117E	ATF7IP_ENST00000536444.1_Missense_Mutation_p.G1116E|ATF7IP_ENST00000544627.1_Missense_Mutation_p.G1125E|ATF7IP_ENST00000261168.4_Missense_Mutation_p.G1117E			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1117					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGATCAACAGGACCTCAGCTC	0.388																																						uc001rbw.2		NA																	0				lung(3)|ovary(1)|skin(1)	5						c.(3349-3351)GGA>GAA		activating transcription factor 7 interacting							123.0	93.0	103.0					12																	14649234		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14649234G>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3350G>A	12.37:g.14649234G>A	ENSP00000444589:p.Gly1117Glu					ATF7IP_uc001rbx.2_Missense_Mutation_p.G1116E|ATF7IP_uc001rby.3_Missense_Mutation_p.G1117E|ATF7IP_uc001rca.2_Missense_Mutation_p.G1117E	p.G1117E	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			14	3508	+			1117					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3350G>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955874	0.53293	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.20881	2.04;2.05;2.04;2.04	5.37	5.37	0.77165	.	0.095777	0.46145	D	0.000312	T	0.42177	0.1191	L	0.59436	1.845	0.43485	D	0.995718	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.943	T	0.20472	-1.0274	10	0.87932	D	0	-20.6006	16.0306	0.80574	0.0:0.1434:0.8566:0.0	.	1116;1117	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	E	1117;1116;1125;1117	ENSP00000261168:G1117E;ENSP00000445955:G1116E;ENSP00000440440:G1125E;ENSP00000444589:G1117E	ENSP00000261168:G1117E	G	+	2	0	ATF7IP	14540501	1.000000	0.71417	0.998000	0.56505	0.277000	0.26821	3.469000	0.53093	2.669000	0.90835	0.643000	0.83706	GGA		0.388	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		16	33	0	0	0	0	16	33				
PDE3A	5139	broad.mit.edu	37	12	20806970	20806970	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:20806970C>G	ENST00000359062.3	+	15	3055	c.3015C>G	c.(3013-3015)atC>atG	p.I1005M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1005	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AATCCTTCATCTCTCACATTG	0.498																																						uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(3013-3015)ATC>ATG		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						99.0	92.0	95.0					12																	20806970		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20806970C>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3015C>G	12.37:g.20806970C>G	ENSP00000351957:p.Ile1005Met						p.I1005M	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			15	3037	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	1005			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.3015C>G	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423413	0.62733	.	.	ENSG00000172572	ENST00000359062	T	0.81330	-1.48	5.31	4.41	0.53225	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	L	0.60845	1.875	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.86827	0.2008	10	0.87932	D	0	.	10.3459	0.43906	0.0:0.8495:0.0:0.1505	.	1005	Q14432	PDE3A_HUMAN	M	1005	ENSP00000351957:I1005M	ENSP00000351957:I1005M	I	+	3	3	PDE3A	20698237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.483000	0.35497	1.374000	0.46228	0.655000	0.94253	ATC		0.498	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			11	75	0	0	0	0	11	75				
KANSL2	54934	broad.mit.edu	37	12	49075374	49075374	+	Silent	SNP	C	C	A	rs553500532		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:49075374C>A	ENST00000420613.2	-	2	89	c.42G>T	c.(40-42)ggG>ggT	p.G14G	KANSL2_ENST00000550347.1_Silent_p.G197G|KANSL2_ENST00000553086.1_Silent_p.G14G|KANSL2_ENST00000357861.3_5'UTR	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	14					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											GAGTGATCCTCCCCCGATTGG	0.517																																						uc001rrx.2		NA																	0				ovary(2)	2						c.(40-42)GGG>GGT		hypothetical protein LOC54934							120.0	122.0	122.0					12																	49075374		2006	4177	6183	SO:0001819	synonymous_variant	54934							g.chr12:49075374C>A	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.42G>T	12.37:g.49075374C>A						C12orf41_uc001rrw.2_5'Flank|C12orf41_uc001rrz.2_Silent_p.G197G|C12orf41_uc001rry.2_RNA	p.G14G	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN			2	117	-			14					Q8N3B5|Q96CV0|Q9NX51	Silent	SNP	ENST00000420613.2	37	c.42G>T	CCDS44869.1																																																																																				0.517	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822		12	86	1	0	7.93e-07	8.41e-07	12	86				
CACNB3	784	broad.mit.edu	37	12	49219528	49219528	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:49219528C>T	ENST00000301050.2	+	9	917	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	CACNB3_ENST00000540990.1_Missense_Mutation_p.R227C|CACNB3_ENST00000547230.1_Missense_Mutation_p.R199C|CACNB3_ENST00000547392.1_Missense_Mutation_p.R213C|CACNB3_ENST00000536187.2_Missense_Mutation_p.R239C	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	240					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CATCATTGAGCGCTCCTCTGC	0.572																																						uc001rsl.1		NA																	0					0						c.(718-720)CGC>TGC		calcium channel, voltage-dependent, beta 3	Verapamil(DB00661)						82.0	70.0	74.0					12																	49219528		2203	4300	6503	SO:0001583	missense	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49219528C>T		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.718C>T	12.37:g.49219528C>T	ENSP00000301050:p.Arg240Cys					CACNB3_uc010sly.1_Missense_Mutation_p.R227C|CACNB3_uc010slz.1_Missense_Mutation_p.R239C|CACNB3_uc001rsk.1_Missense_Mutation_p.R87C	p.R240C	NM_000725	NP_000716	P54284	CACB3_HUMAN			9	919	+			240					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	c.718C>T	CCDS8769.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359334	0.82353	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547818;ENST00000547392;ENST00000301050;ENST00000547230	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.51	5.51	0.81932	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.71005	0.3289	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.991;0.993;0.995	T	0.75728	-0.3216	9	.	.	.	-13.7598	18.173	0.89752	0.0:1.0:0.0:0.0	.	239;227;240;227	F5GZW7;F5H2P6;P54284;B7Z973	.;.;CACB3_HUMAN;.	C	227;239;64;213;240;199	ENSP00000445495:R227C;ENSP00000444160:R239C;ENSP00000448137:R64C;ENSP00000446529:R213C;ENSP00000301050:R240C;ENSP00000448304:R199C	.	R	+	1	0	CACNB3	47505795	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.673000	0.54591	2.582000	0.87167	0.563000	0.77884	CGC		0.572	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			20	77	0	0	0	0	20	77				
KMT2D	8085	broad.mit.edu	37	12	49443980	49443980	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:49443980G>C	ENST00000301067.7	-	11	3390	c.3391C>G	c.(3391-3393)Ccg>Gcg	p.P1131A		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1131	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGTGAACCCGGAGCATCAATC	0.637																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(3391-3393)CCG>GCG		myeloid/lymphoid or mixed-lineage leukemia 2							20.0	21.0	21.0					12																	49443980		1896	4102	5998	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49443980G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3391C>G	12.37:g.49443980G>C	ENSP00000301067:p.Pro1131Ala	HNSCC(34;0.089)					p.P1131A	NM_003482	NP_003473	O14686	MLL2_HUMAN			11	3391	-			1131			Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.3391C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	7.935	0.741473	0.15642	.	.	ENSG00000167548	ENST00000301067	T	0.77098	-1.07	5.32	0.679	0.17975	.	0.782790	0.10470	N	0.670943	T	0.58581	0.2132	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.53464	-0.8435	10	0.87932	D	0	.	9.8924	0.41298	0.0:0.5754:0.2859:0.1387	.	1131	O14686	MLL2_HUMAN	A	1131	ENSP00000301067:P1131A	ENSP00000301067:P1131A	P	-	1	0	MLL2	47730247	0.000000	0.05858	0.993000	0.49108	0.845000	0.48019	-0.418000	0.07080	0.548000	0.28955	0.563000	0.77884	CCG		0.637	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			22	30	0	0	0	0	22	30				
ESPL1	9700	broad.mit.edu	37	12	53687204	53687204	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:53687204G>C	ENST00000257934.4	+	31	6400	c.6309G>C	c.(6307-6309)aaG>aaC	p.K2103N	PFDN5_ENST00000351500.3_5'Flank|PFDN5_ENST00000551018.1_5'Flank|PFDN5_ENST00000334478.4_5'Flank|PFDN5_ENST00000550846.1_5'Flank|ESPL1_ENST00000552462.1_Missense_Mutation_p.K2103N	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2103					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCGACTCAAGTATCTTATTG	0.557																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(6307-6309)AAG>AAC		separase							66.0	67.0	66.0					12																	53687204		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53687204G>C	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.6309G>C	12.37:g.53687204G>C	ENSP00000257934:p.Lys2103Asn					ESPL1_uc001scj.2_Missense_Mutation_p.K1778N|PFDN5_uc001scl.2_5'Flank|PFDN5_uc001scm.2_5'Flank|PFDN5_uc001scn.2_5'Flank|PFDN5_uc001sco.2_5'Flank	p.K2103N	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			31	6400	+			2103						Missense_Mutation	SNP	ENST00000257934.4	37	c.6309G>C	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410460	0.62399	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.19669	2.13;2.13	4.73	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.81341	2.54	0.46725	D	0.999178	D	0.89917	1.0	D	0.85130	0.997	T	0.33954	-0.9848	10	0.87932	D	0	.	5.37	0.16134	0.3538:0.0:0.6462:0.0	.	2103	Q14674	ESPL1_HUMAN	N	2103;1778;2103	ENSP00000257934:K2103N;ENSP00000449831:K2103N	ENSP00000257934:K2103N	K	+	3	2	ESPL1	51973471	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.395000	0.34520	1.356000	0.45884	0.563000	0.77884	AAG		0.557	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		21	89	0	0	0	0	21	89				
NABP2	79035	broad.mit.edu	37	12	56620162	56620162	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:56620162C>T	ENST00000380198.2	+	5	893	c.395C>T	c.(394-396)tCa>tTa	p.S132L	NABP2_ENST00000341463.5_Missense_Mutation_p.S132L|NABP2_ENST00000267023.4_Missense_Mutation_p.S132L			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	132					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										AGCAACCCTTCAGCTTCCCAG	0.537																																						uc001ski.2		NA																	0				ovary(1)	1						c.(394-396)TCA>TTA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	oligonucleotide/oligosaccharide-binding fold							212.0	169.0	184.0					12																	56620162		2203	4300	6503	SO:0001583	missense	79035				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding	g.chr12:56620162C>T	BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"""single strand DNA-binding protein 1"", ""sensor of single-strand DNA complex subunit B1"""	612104	"""oligonucleotide/oligosaccharide-binding fold containing 2B"""	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.395C>T	12.37:g.56620162C>T	ENSP00000369545:p.Ser132Leu					OBFC2B_uc001skk.2_Missense_Mutation_p.S157L|OBFC2B_uc001skj.2_Missense_Mutation_p.S148L	p.S132L	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN			6	519	+			132					A6NDF8|Q6XYC8	Missense_Mutation	SNP	ENST00000380198.2	37	c.395C>T	CCDS8911.1	.	.	.	.	.	.	.	.	.	.	C	9.429	1.085043	0.20390	.	.	ENSG00000139579	ENST00000447747;ENST00000399713;ENST00000267023;ENST00000380198;ENST00000341463	T;T;T	0.28069	1.63;1.63;1.63	3.89	2.97	0.34412	.	1.128570	0.06711	N	0.773220	T	0.23289	0.0563	N	0.24115	0.695	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.22521	-1.0214	10	0.39692	T	0.17	-7.7391	9.9462	0.41611	0.0:0.7912:0.2088:0.0	.	132;132;132	C9JT95;C9JMP5;Q9BQ15	.;.;SOSB1_HUMAN	L	132	ENSP00000267023:S132L;ENSP00000369545:S132L;ENSP00000368862:S132L	ENSP00000267023:S132L	S	+	2	0	OBFC2B	54906429	0.003000	0.15002	0.012000	0.15200	0.026000	0.11368	1.792000	0.38754	0.925000	0.37094	0.450000	0.29827	TCA		0.537	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326610.1	NM_024068		25	143	0	0	0	0	25	143				
GLS2	27165	broad.mit.edu	37	12	56865620	56865620	+	Splice_Site	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:56865620C>T	ENST00000311966.4	-	17	1867	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E	MIP_ENST00000555551.1_5'Flank|GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	530					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TTCGATGTGTCCTAGGAATAT	0.483																																						uc001slj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1588-1590)GGA>GAA		glutaminase 2 precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						114.0	111.0	112.0					12																	56865620		2203	4300	6503	SO:0001630	splice_region_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56865620C>T		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1589-1G>A	12.37:g.56865620C>T						GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.G265E|GLS2_uc009zot.2_Missense_Mutation_p.G191E	p.G530E	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN			17	1868	-			530			ANK 1.		B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	ENST00000311966.4	37	c.1589G>A	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238784	0.95240	.	.	ENSG00000135423	ENST00000311966	T	0.46451	0.87	4.94	4.94	0.65067	Ankyrin repeat-containing domain (4);	0.163853	0.53938	D	0.000057	T	0.69566	0.3125	M	0.89840	3.065	0.80722	D	1	D	0.60575	0.988	D	0.67900	0.954	T	0.76094	-0.3085	10	0.66056	D	0.02	.	15.9294	0.79648	0.0:1.0:0.0:0.0	.	530	Q9UI32	GLSL_HUMAN	E	530	ENSP00000310447:G530E	ENSP00000310447:G530E	G	-	2	0	GLS2	55151887	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	7.288000	0.78691	2.666000	0.90696	0.655000	0.94253	GGA		0.483	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267	Missense_Mutation	69	150	0	0	0	0	69	150				
NAB2	4665	broad.mit.edu	37	12	57485044	57485044	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:57485044G>C	ENST00000300131.3	+	2	598	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	NAB2_ENST00000357680.4_Missense_Mutation_p.E74Q|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Missense_Mutation_p.E74Q	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	74	NCD1.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCAGCTGTGTGAGGCGGGTGA	0.632																																						uc001smz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(220-222)GAG>CAG		NGFI-A binding protein 2							87.0	97.0	94.0					12																	57485044		2203	4300	6503	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485044G>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.220G>C	12.37:g.57485044G>C	ENSP00000300131:p.Glu74Gln						p.E74Q	NM_005967	NP_005958	Q15742	NAB2_HUMAN			2	598	+			74			NCD1.		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.220G>C	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480946	0.84747	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	D;D;D	0.82803	-1.65;-1.65;-1.65	4.43	4.43	0.53597	Nab, N-terminal (2);	0.000000	0.64402	D	0.000001	D	0.89458	0.6721	M	0.68317	2.08	0.58432	D	0.999998	D	0.67145	0.996	D	0.79108	0.992	D	0.90545	0.4505	10	0.72032	D	0.01	-16.808	14.6094	0.68504	0.0:0.0:1.0:0.0	.	74	Q15742	NAB2_HUMAN	Q	74	ENSP00000300131:E74Q;ENSP00000341491:E74Q;ENSP00000350309:E74Q	ENSP00000300131:E74Q	E	+	1	0	NAB2	55771311	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.609000	0.82925	2.295000	0.77249	0.561000	0.74099	GAG		0.632	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		25	219	0	0	0	0	25	219				
DPY19L2	283417	broad.mit.edu	37	12	63974572	63974572	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:63974572G>C	ENST00000324472.4	-	19	1953	c.1770C>G	c.(1768-1770)atC>atG	p.I590M	DPY19L2_ENST00000413230.2_Missense_Mutation_p.I37M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	590					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAATGCCAAAGATAACCTTCT	0.373																																						uc001srp.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1768-1770)ATC>ATG		dpy-19-like 2							85.0	79.0	81.0					12																	63974572		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63974572G>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1770C>G	12.37:g.63974572G>C	ENSP00000315988:p.Ile590Met					DPY19L2_uc010sso.1_Missense_Mutation_p.I37M	p.I590M	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	19	1951	-			590					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1770C>G	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733889	0.30684	.	.	ENSG00000177990	ENST00000324472;ENST00000413230	T;T	0.55760	0.5;0.5	3.49	3.49	0.39957	.	0.181560	0.47852	D	0.000214	T	0.51007	0.1649	N	0.24115	0.695	0.25363	N	0.988769	D	0.53619	0.961	P	0.57620	0.824	T	0.41466	-0.9507	9	.	.	.	.	12.8541	0.57876	0.0:0.0:1.0:0.0	.	590	Q6NUT2	D19L2_HUMAN	M	590;37	ENSP00000315988:I590M;ENSP00000439794:I37M	.	I	-	3	3	DPY19L2	62260839	1.000000	0.71417	0.998000	0.56505	0.171000	0.22731	2.692000	0.47018	1.920000	0.55613	0.305000	0.20034	ATC		0.373	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		29	86	0	0	0	0	29	86				
LRRC10	376132	broad.mit.edu	37	12	70004349	70004349	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:70004349C>A	ENST00000361484.3	-	1	593	c.270G>T	c.(268-270)ctG>ctT	p.L90L		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	90					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCACCTGGGGCAGAGCCTTGA	0.562																																						uc001svc.2		NA																	0					0						c.(268-270)CTG>CTT		leucine rich repeat containing 10							69.0	66.0	67.0					12																	70004349		2203	4300	6503	SO:0001819	synonymous_variant	376132					nucleus		g.chr12:70004349C>A	AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.270G>T	12.37:g.70004349C>A							p.L90L	NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		1	594	-	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		90			LRR 2.		Q6ZVY4	Silent	SNP	ENST00000361484.3	37	c.270G>T	CCDS31856.1																																																																																				0.562	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403834.1	NM_201550		23	56	1	0	3.62e-10	3.9e-10	23	56				
NUP37	79023	broad.mit.edu	37	12	102492898	102492898	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:102492898G>A	ENST00000552283.1	-	5	574	c.435C>T	c.(433-435)gaC>gaT	p.D145D	NUP37_ENST00000251074.1_Silent_p.D145D|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	145					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						AGGTGTGATCGTCACTCACAC	0.343																																						uc001tjc.2		NA																	0				ovary(1)	1						c.(433-435)GAC>GAT		nucleoporin 37kDa							106.0	95.0	99.0					12																	102492898		2203	4300	6503	SO:0001819	synonymous_variant	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102492898G>A	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.435C>T	12.37:g.102492898G>A						NUP37_uc009zub.1_Silent_p.D145D	p.D145D	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN			4	500	-			145			WD 2.		Q9H644	Silent	SNP	ENST00000552283.1	37	c.435C>T	CCDS9089.1																																																																																				0.343	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		34	62	0	0	0	0	34	62				
CRY1	1407	broad.mit.edu	37	12	107393468	107393468	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:107393468C>T	ENST00000008527.5	-	7	1865	c.998G>A	c.(997-999)gGc>gAc	p.G333D		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	333					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GCCTGTCCGGCCTTCCGCCCA	0.473																																						uc001tmi.3		NA																	0				ovary(3)	3						c.(997-999)GGC>GAC		cryptochrome 1 (photolyase-like)							72.0	68.0	69.0					12																	107393468		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107393468C>T	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.998G>A	12.37:g.107393468C>T	ENSP00000008527:p.Gly333Asp						p.G333D	NM_004075	NP_004066	Q16526	CRY1_HUMAN			7	1857	-			333			FAD-binding.			Missense_Mutation	SNP	ENST00000008527.5	37	c.998G>A	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376619	0.82682	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.79	5.79	0.91817	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91499	0.7316	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94399	0.7621	9	0.87932	D	0	-14.3433	20.0308	0.97536	0.0:1.0:0.0:0.0	.	333	Q16526	CRY1_HUMAN	D	333	.	ENSP00000008527:G333D	G	-	2	0	CRY1	105917598	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.056000	0.71111	2.732000	0.93576	0.585000	0.79938	GGC		0.473	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		27	45	0	0	0	0	27	45				
TCTN1	79600	broad.mit.edu	37	12	111078307	111078307	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:111078307G>C	ENST00000551590.1	+	8	1119	c.963G>C	c.(961-963)gtG>gtC	p.V321V	TCTN1_ENST00000551555.2_3'UTR|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Silent_p.V321V|TCTN1_ENST00000377654.3_Silent_p.V143V|TCTN1_ENST00000397655.3_Silent_p.V307V			Q2MV58	TECT1_HUMAN	tectonic family member 1	321					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GCCTTTGCGTGAATGTTGTTC	0.542																																						uc009zvs.2		NA																	0					0						c.(961-963)GTG>GTC		tectonic family member 1 isoform 2							121.0	125.0	124.0					12																	111078307		2142	4268	6410	SO:0001819	synonymous_variant	79600				multicellular organismal development	extracellular region		g.chr12:111078307G>C	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.963G>C	12.37:g.111078307G>C						TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Silent_p.V261V|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Silent_p.V307V|TCTN1_uc001trn.3_Silent_p.V321V|TCTN1_uc001trj.1_Silent_p.V265V|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	p.V321V	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN			8	1071	+			321					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Silent	SNP	ENST00000551590.1	37	c.963G>C	CCDS41835.1																																																																																				0.542	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		16	101	0	0	0	0	16	101				
CCDC63	160762	broad.mit.edu	37	12	111336787	111336787	+	Silent	SNP	C	C	T	rs141258896		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:111336787C>T	ENST00000308208.5	+	10	1442	c.1200C>T	c.(1198-1200)taC>taT	p.Y400Y	CCDC63_ENST00000552694.1_Silent_p.Y321Y|CCDC63_ENST00000545036.1_Silent_p.Y360Y	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	400										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AGAGCAAGTACGGGGAGGTCA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17309	0.0		0.0	False		,,,				2504	0.0					uc001trv.1		NA																	0				skin(6)|ovary(1)|pancreas(1)	8						c.(1198-1200)TAC>TAT		coiled-coil domain containing 63		C		2,4404	4.2+/-10.8	0,2,2201	111.0	104.0	106.0		1200	4.5	0.0	12	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous	CCDC63	NM_152591.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		400/564	111336787	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	160762							g.chr12:111336787C>T	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1200C>T	12.37:g.111336787C>T						CCDC63_uc010sye.1_Silent_p.Y360Y|CCDC63_uc001trw.1_Silent_p.Y315Y	p.Y400Y	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			10	1395	+			400			Potential.		B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	37	c.1200C>T	CCDS9151.1																																																																																				0.512	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		16	74	0	0	0	0	16	74				
CCDC63	160762	broad.mit.edu	37	12	111345227	111345227	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:111345227A>G	ENST00000308208.5	+	12	1881	c.1639A>G	c.(1639-1641)Agc>Ggc	p.S547G	CCDC63_ENST00000552694.1_Missense_Mutation_p.S468G|CCDC63_ENST00000545036.1_Missense_Mutation_p.S507G	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	547										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCGCGGAGACAGCCTGCCTGA	0.517																																						uc001trv.1		NA																	0				skin(6)|ovary(1)|pancreas(1)	8						c.(1639-1641)AGC>GGC		coiled-coil domain containing 63							101.0	76.0	85.0					12																	111345227		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111345227A>G	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1639A>G	12.37:g.111345227A>G	ENSP00000312399:p.Ser547Gly					CCDC63_uc010sye.1_Missense_Mutation_p.S507G|CCDC63_uc001trw.1_Missense_Mutation_p.S462G	p.S547G	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			12	1834	+			547					B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.1639A>G	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	A	7.442	0.640977	0.14386	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.31247	1.5;1.5;1.5	3.34	2.19	0.27852	.	0.399021	0.20856	N	0.084445	T	0.12178	0.0296	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.25813	-1.0121	10	0.16896	T	0.51	.	5.3036	0.15791	0.8685:0.0:0.1315:0.0	.	547	Q8NA47	CCD63_HUMAN	G	507;547;468	ENSP00000445881:S507G;ENSP00000312399:S547G;ENSP00000450217:S468G	ENSP00000312399:S547G	S	+	1	0	CCDC63	109829610	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.190000	0.17057	0.678000	0.31325	0.444000	0.29173	AGC		0.517	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		7	50	0	0	0	0	7	50				
CCDC64	92558	broad.mit.edu	37	12	120530923	120530923	+	Silent	SNP	C	C	T	rs201184033		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:120530923C>T	ENST00000397558.2	+	9	1680	c.1680C>T	c.(1678-1680)atC>atT	p.I560I	CCDC64_ENST00000546857.1_3'UTR|CCDC64_ENST00000446727.2_Silent_p.I231I|CCDC64_ENST00000257583.4_Silent_p.I257I	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	560					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCCCAGCATCGCTGAAGGCA	0.602																																						uc001txl.1		NA																	0				ovary(2)	2						c.(1678-1680)ATC>ATT		coiled-coil domain containing 64							32.0	37.0	35.0					12																	120530923		2015	4154	6169	SO:0001819	synonymous_variant	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120530923C>T	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1680C>T	12.37:g.120530923C>T						CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Silent_p.I231I|CCDC64_uc010szf.1_Silent_p.I257I	p.I560I	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN			9	1705	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		560					A8MUC8|B4DWL0|B5MDJ0|O95000	Silent	SNP	ENST00000397558.2	37	c.1680C>T	CCDS41845.1																																																																																				0.602	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		5	35	0	0	0	0	5	35				
SNRNP35	11066	broad.mit.edu	37	12	123950297	123950297	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:123950297C>G	ENST00000526639.2	+	2	789	c.210C>G	c.(208-210)gtC>gtG	p.V70V	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Silent_p.V70V|SNRNP35_ENST00000412157.2_Silent_p.V75V	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	70	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TAAAGGAAGTCTTTTCCCGCT	0.517																																						uc001ufb.1		NA																	0					0						c.(208-210)GTC>GTG		small nuclear ribonucleoprotein 35kDa (U11/U12)							89.0	78.0	82.0					12																	123950297		2203	4300	6503	SO:0001819	synonymous_variant	11066				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	g.chr12:123950297C>G	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.210C>G	12.37:g.123950297C>G						SNRNP35_uc010tar.1_Silent_p.V75V|SNRNP35_uc009zxz.2_Silent_p.V75V|SNRNP35_uc001ufc.1_Intron	p.V70V	NM_022717	NP_073208	Q16560	U1SBP_HUMAN			2	326	+			70			RRM.		A8K262|Q5XKN9	Silent	SNP	ENST00000526639.2	37	c.210C>G	CCDS9249.1																																																																																				0.517	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		27	46	0	0	0	0	27	46				
TMEM132B	114795	broad.mit.edu	37	12	126135268	126135268	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:126135268G>C	ENST00000299308.3	+	7	1676	c.1668G>C	c.(1666-1668)aaG>aaC	p.K556N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.K68N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	556						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGAGGAGAAGAAGGGACGAG	0.552																																						uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1666-1668)AAG>AAC		transmembrane protein 132B							80.0	90.0	87.0					12																	126135268		2182	4293	6475	SO:0001583	missense	114795					integral to membrane		g.chr12:126135268G>C	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1668G>C	12.37:g.126135268G>C	ENSP00000299308:p.Lys556Asn					TMEM132B_uc001uhf.1_Missense_Mutation_p.K68N	p.K556N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	7	1676	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		556			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1668G>C	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048301	0.55110	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.46063	0.88;0.88	5.15	5.15	0.70609	.	0.173509	0.40385	N	0.001112	T	0.40094	0.1103	L	0.41492	1.28	0.53688	D	0.999974	P	0.44478	0.836	P	0.46758	0.526	T	0.20140	-1.0284	10	0.45353	T	0.12	.	10.3549	0.43958	0.1525:0.0:0.8475:0.0	.	556	Q14DG7	T132B_HUMAN	N	556;68	ENSP00000299308:K556N;ENSP00000440436:K68N	ENSP00000299308:K556N	K	+	3	2	TMEM132B	124701221	0.986000	0.35501	0.998000	0.56505	0.819000	0.46315	0.654000	0.24918	2.363000	0.80096	0.655000	0.94253	AAG		0.552	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		4	103	0	0	0	0	4	103				
TMEM132D	121256	broad.mit.edu	37	12	129566558	129566558	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:129566558C>G	ENST00000422113.2	-	7	1995	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E95Q	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	557					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTCCTCCTCTTCACTGTCC	0.642																																						uc009zyl.1		NA																	0		p.E557E(1)		ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1669-1671)GAG>CAG		transmembrane protein 132D precursor							46.0	48.0	48.0					12																	129566558		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129566558C>G	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1669G>C	12.37:g.129566558C>G	ENSP00000408581:p.Glu557Gln					TMEM132D_uc001uia.2_Missense_Mutation_p.E95Q	p.E557Q	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	7	1997	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	557			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1669G>C	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069932	0.55539	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14516	2.5;2.5	4.72	4.72	0.59763	.	0.405233	0.24352	N	0.039267	T	0.30135	0.0755	L	0.59436	1.845	0.39074	D	0.960774	P;D	0.60160	0.779;0.987	B;P	0.58660	0.369;0.843	T	0.05099	-1.0906	9	.	.	.	-31.1004	17.6741	0.88225	0.0:1.0:0.0:0.0	.	557;95	Q14C87;Q14C87-2	T132D_HUMAN;.	Q	95;557	ENSP00000374092:E95Q;ENSP00000408581:E557Q	.	E	-	1	0	TMEM132D	128132511	1.000000	0.71417	0.982000	0.44146	0.167000	0.22549	7.044000	0.76578	2.149000	0.67028	0.561000	0.74099	GAG		0.642	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		18	96	0	0	0	0	18	96				
ANKLE2	23141	broad.mit.edu	37	12	133306305	133306305	+	Missense_Mutation	SNP	C	C	G	rs373384820		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:133306305C>G	ENST00000357997.5	-	11	2532	c.2443G>C	c.(2443-2445)Gag>Cag	p.E815Q	ANKLE2_ENST00000542282.1_Missense_Mutation_p.E170Q|ANKLE2_ENST00000542657.1_Missense_Mutation_p.E170Q|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000539605.1_Missense_Mutation_p.E753Q	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	815					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTGGTGACCTCGAGCTGATCC	0.597																																						uc001ukx.2		NA																	0					0						c.(2443-2445)GAG>CAG		ankyrin repeat and LEM domain containing 2							77.0	84.0	82.0					12																	133306305		2062	4192	6254	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133306305C>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2443G>C	12.37:g.133306305C>G	ENSP00000350686:p.Glu815Gln					ANKLE2_uc009zyw.1_Missense_Mutation_p.E170Q	p.E815Q	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	11	2510	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	815					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.2443G>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	C	6.056	0.378750	0.11466	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.44881	1.9;1.88;0.91;0.91;0.91	3.53	-3.48	0.04739	.	20.200500	0.00166	N	0.000000	T	0.27134	0.0665	L	0.29908	0.895	0.09310	N	1	B	0.32717	0.381	B	0.32393	0.145	T	0.06716	-1.0811	10	0.13853	T	0.58	-17.8034	5.4883	0.16761	0.0:0.2613:0.1629:0.5757	.	815	Q86XL3	ANKL2_HUMAN	Q	753;815;170;170;170	ENSP00000446268:E753Q;ENSP00000350686:E815Q;ENSP00000437807:E170Q;ENSP00000438551:E170Q;ENSP00000445760:E170Q	ENSP00000350686:E815Q	E	-	1	0	ANKLE2	131816378	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.570000	0.05895	-0.799000	0.04439	-0.150000	0.13652	GAG		0.597	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			10	154	0	0	0	0	10	154				
FRY	10129	broad.mit.edu	37	13	32818298	32818298	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr13:32818298G>C	ENST00000380250.3	+	47	7303	c.6807G>C	c.(6805-6807)aaG>aaC	p.K2269N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2269						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAGTTCTGAAGACAATTGAAA	0.438																																						uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(6805-6807)AAG>AAC		furry homolog							107.0	105.0	105.0					13																	32818298		1915	4144	6059	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32818298G>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6807G>C	13.37:g.32818298G>C	ENSP00000369600:p.Lys2269Asn					FRY_uc010tdw.1_RNA	p.K2269N	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	47	7303	+		Lung SC(185;0.0271)	2269					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6807G>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901478	0.72754	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.24538	1.85	5.84	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	L	0.58101	1.795	0.80722	D	1	D	0.57571	0.98	P	0.60541	0.876	T	0.14783	-1.0460	10	0.33141	T	0.24	.	11.8723	0.52527	0.1507:0.0:0.8493:0.0	.	2269	Q5TBA9	FRY_HUMAN	N	2269;1106	ENSP00000369600:K2269N	ENSP00000369600:K2269N	K	+	3	2	FRY	31716298	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.196000	0.51020	1.482000	0.48325	0.650000	0.86243	AAG		0.438	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		23	115	0	0	0	0	23	115				
UGGT2	55757	broad.mit.edu	37	13	96592328	96592328	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr13:96592328C>G	ENST00000376747.3	-	16	1765	c.1695G>C	c.(1693-1695)aaG>aaC	p.K565N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	565					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTTGATCCTTCTTCACTTTTT	0.279																																						uc001vmt.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1693-1695)AAG>AAC		UDP-glucose ceramide glucosyltransferase-like 2							94.0	90.0	91.0					13																	96592328		2202	4300	6502	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96592328C>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1695G>C	13.37:g.96592328C>G	ENSP00000365938:p.Lys565Asn						p.K565N	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			16	1865	-			565					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.1695G>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	3.971	-0.008321	0.07727	.	.	ENSG00000102595	ENST00000376747	T	0.33216	1.42	5.64	2.87	0.33458	.	0.484308	0.25958	N	0.027211	T	0.29783	0.0744	M	0.77616	2.38	0.36301	D	0.857059	B	0.10296	0.003	B	0.08055	0.003	T	0.15464	-1.0436	10	0.29301	T	0.29	.	5.4526	0.16572	0.3984:0.4506:0.0:0.151	.	565	Q9NYU1	UGGG2_HUMAN	N	565	ENSP00000365938:K565N	ENSP00000365938:K565N	K	-	3	2	UGGT2	95390329	0.003000	0.15002	0.013000	0.15412	0.274000	0.26718	-0.136000	0.10405	0.277000	0.22141	0.561000	0.74099	AAG		0.279	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		5	126	0	0	0	0	5	126				
NALCN	259232	broad.mit.edu	37	13	101756771	101756771	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr13:101756771C>T	ENST00000251127.6	-	25	2845	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	922					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACACATACTCAGCAATCTGA	0.423																																						uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2764-2766)GAG>AAG		voltage gated channel like 1							106.0	94.0	98.0					13																	101756771		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101756771C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2764G>A	13.37:g.101756771C>T	ENSP00000251127:p.Glu922Lys						p.E922K	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			25	2953	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		922			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2764G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873460	0.91664	.	.	ENSG00000102452	ENST00000251127	D	0.97976	-4.64	5.87	5.03	0.67393	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99478	1.0947	10	0.72032	D	0.01	.	14.9712	0.71235	0.0:0.9319:0.0:0.0681	.	922	Q8IZF0	NALCN_HUMAN	K	922	ENSP00000251127:E922K	ENSP00000251127:E922K	E	-	1	0	NALCN	100554772	1.000000	0.71417	0.965000	0.40720	0.980000	0.70556	7.487000	0.81328	1.497000	0.48584	0.655000	0.94253	GAG		0.423	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		6	101	0	0	0	0	6	101				
OR4N2	390429	broad.mit.edu	37	14	20295739	20295739	+	Silent	SNP	C	C	T	rs267603909		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:20295739C>T	ENST00000315947.1	+	1	132	c.132C>T	c.(130-132)ctC>ctT	p.L44L	OR4N2_ENST00000568211.1_Silent_p.L44L	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAAATTTTCTCATTATTTTCA	0.448																																						uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(130-132)CTC>CTT		olfactory receptor, family 4, subfamily N,							189.0	221.0	210.0					14																	20295739		2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295739C>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.132C>T	14.37:g.20295739C>T							p.L44L	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	132	+	all_cancers(95;0.00108)		44			Helical; Name=1; (Potential).		Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.132C>T	CCDS32022.1																																																																																				0.448	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			118	271	0	0	0	0	118	271				
OR4K15	81127	broad.mit.edu	37	14	20444245	20444245	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:20444245C>G	ENST00000305051.5	+	1	643	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTGTTAATCTGCCATTTTG	0.438																																						uc010tkx.1		NA																	0				ovary(1)	1						c.(568-570)CTG>GTG		olfactory receptor, family 4, subfamily K,							163.0	158.0	160.0					14																	20444245		2203	4299	6502	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444245C>G		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.568C>G	14.37:g.20444245C>G	ENSP00000304077:p.Leu190Val						p.L190V	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	568	+	all_cancers(95;0.00108)		190			Extracellular (Potential).		B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.568C>G	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	14.35	2.510426	0.44660	.	.	ENSG00000169488	ENST00000305051	T	0.00285	8.3	3.98	-0.566	0.11767	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001072	T	0.00552	0.0018	M	0.84326	2.69	0.26897	N	0.967193	D	0.89917	1.0	D	0.79108	0.992	T	0.38023	-0.9680	10	0.87932	D	0	.	8.0374	0.30502	0.0:0.4973:0.0:0.5027	.	190	Q8NH41	OR4KF_HUMAN	V	190	ENSP00000304077:L190V	ENSP00000304077:L190V	L	+	1	2	OR4K15	19514085	0.014000	0.17966	0.971000	0.41717	0.702000	0.40608	-0.148000	0.10219	0.011000	0.14865	0.585000	0.79938	CTG		0.438	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			78	219	0	0	0	0	78	219				
TOX4	9878	broad.mit.edu	37	14	21963395	21963395	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:21963395C>G	ENST00000405508.1	+	9	1925	c.1649C>G	c.(1648-1650)tCt>tGt	p.S550C	TOX4_ENST00000262709.3_Missense_Mutation_p.S550C|TOX4_ENST00000448790.2_Missense_Mutation_p.S527C			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	550						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAGGTTGAGTCTCCTTCTCAG	0.483																																						uc001waz.2		NA																	0				ovary(1)	1						c.(1648-1650)TCT>TGT		epidermal Langerhans cell protein LCP1							209.0	169.0	183.0					14																	21963395		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21963395C>G	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1649C>G	14.37:g.21963395C>G	ENSP00000385102:p.Ser550Cys					TOX4_uc001way.2_Missense_Mutation_p.S420C|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.S527C|TOX4_uc010tlv.1_Missense_Mutation_p.S420C	p.S550C	NM_014828	NP_055643	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1752	+	all_cancers(95;0.000465)		550					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.1649C>G	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675240	0.67928	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.13778	2.57;2.57;2.56	5.57	5.57	0.84162	.	0.542774	0.19963	N	0.102167	T	0.19765	0.0475	N	0.22421	0.69	0.30701	N	0.750275	D;D	0.56521	0.976;0.976	P;P	0.52881	0.712;0.712	T	0.01039	-1.1472	10	0.72032	D	0.01	.	18.6982	0.91610	0.0:1.0:0.0:0.0	.	527;550	B4DPY8;O94842	.;TOX4_HUMAN	C	550;550;527;478	ENSP00000385102:S550C;ENSP00000262709:S550C;ENSP00000393080:S527C	ENSP00000262709:S550C	S	+	2	0	TOX4	21033235	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.781000	0.55394	2.770000	0.95276	0.650000	0.86243	TCT		0.483	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		63	168	0	0	0	0	63	168				
DLGAP5	9787	broad.mit.edu	37	14	55625360	55625360	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:55625360C>G	ENST00000247191.2	-	14	1969	c.1753G>C	c.(1753-1755)Gag>Cag	p.E585Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E585Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	585					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CTAATTCTCTCTCTCATTGCA	0.393																																						uc001xbs.2		NA																	0				ovary(1)|skin(1)	2						c.(1753-1755)GAG>CAG		discs large homolog 7 isoform a							124.0	109.0	114.0					14																	55625360		2202	4300	6502	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55625360C>G	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1753G>C	14.37:g.55625360C>G	ENSP00000247191:p.Glu585Gln					DLGAP5_uc001xbt.2_Missense_Mutation_p.E585Q	p.E585Q	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			14	1970	-			585					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.1753G>C	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.440073	0.63067	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.17054	2.3;2.3	5.24	5.24	0.73138	.	0.954968	0.08648	N	0.914556	T	0.36991	0.0987	M	0.67953	2.075	0.22446	N	0.999096	D;B	0.55172	0.97;0.384	P;B	0.59761	0.863;0.126	T	0.15435	-1.0437	10	0.38643	T	0.18	.	11.7371	0.51771	0.0:0.9172:0.0:0.0828	.	585;585	A8MTM6;Q15398	.;DLGP5_HUMAN	Q	585	ENSP00000378815:E585Q;ENSP00000247191:E585Q	ENSP00000247191:E585Q	E	-	1	0	DLGAP5	54695113	0.090000	0.21635	0.913000	0.36048	0.689000	0.40095	0.931000	0.28871	2.832000	0.97577	0.655000	0.94253	GAG		0.393	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		40	87	0	0	0	0	40	87				
DLGAP5	9787	broad.mit.edu	37	14	55643828	55643828	+	Missense_Mutation	SNP	T	T	C	rs139172891	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:55643828T>C	ENST00000247191.2	-	8	1217	c.1001A>G	c.(1000-1002)aAt>aGt	p.N334S	DLGAP5_ENST00000395425.2_Missense_Mutation_p.N334S	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	334					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAAAAAGCATTGGCACTTCT	0.378													T|||	2	0.000399361	0.0	0.0	5008	,	,		16353	0.001		0.0	False		,,,				2504	0.001					uc001xbs.2		NA																	0				ovary(1)|skin(1)	2						c.(1000-1002)AAT>AGT		discs large homolog 7 isoform a		T	SER/ASN,SER/ASN	0,4406		0,0,2203	85.0	85.0	85.0		1001,1001	-4.1	0.0	14	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	DLGAP5	NM_001146015.1,NM_014750.4	46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	334/843,334/847	55643828	1,13005	2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55643828T>C	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1001A>G	14.37:g.55643828T>C	ENSP00000247191:p.Asn334Ser					DLGAP5_uc001xbt.2_Missense_Mutation_p.N334S	p.N334S	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			8	1218	-			334					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.1001A>G	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	T	6.426	0.446812	0.12223	0.0	1.16E-4	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.16457	2.34;2.34	5.85	-4.05	0.03998	.	0.440036	0.27159	N	0.020649	T	0.09992	0.0245	L	0.45137	1.4	0.09310	N	0.999999	B;B	0.25667	0.131;0.131	B;B	0.24974	0.057;0.057	T	0.12708	-1.0537	10	0.41790	T	0.15	.	3.2212	0.06716	0.0975:0.2569:0.1012:0.5445	.	334;334	A8MTM6;Q15398	.;DLGP5_HUMAN	S	334	ENSP00000378815:N334S;ENSP00000247191:N334S	ENSP00000247191:N334S	N	-	2	0	DLGAP5	54713581	0.980000	0.34600	0.001000	0.08648	0.011000	0.07611	1.931000	0.40134	-0.898000	0.03906	-1.182000	0.01712	AAT		0.378	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		30	64	0	0	0	0	30	64				
SPTB	6710	broad.mit.edu	37	14	65233386	65233386	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:65233386G>C	ENST00000389721.5	-	31	6435	c.6403C>G	c.(6403-6405)Cac>Gac	p.H2135D	SPTB_ENST00000556626.1_Intron|SPTB_ENST00000542895.1_Missense_Mutation_p.H2135D|SPTB_ENST00000342835.4_5'Flank|SPTB_ENST00000389722.3_Intron	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2135					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TAGTAGGGGTGAGAGGGCTCT	0.652																																						uc001xht.2		NA																	0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(6403-6405)CAC>GAC		spectrin beta isoform b							99.0	96.0	97.0					14																	65233386		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65233386G>C		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.6403C>G	14.37:g.65233386G>C	ENSP00000374371:p.His2135Asp					SPTB_uc001xhr.2_Intron|SPTB_uc001xhs.2_Intron|SPTB_uc001xhu.2_Missense_Mutation_p.H2135D|SPTB_uc010aqi.2_Intron	p.H2135D	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	31	6457	-		all_lung(585;4.15e-09)	2135					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.6403C>G	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201857	0.58234	.	.	ENSG00000070182	ENST00000389721;ENST00000542895	T;T	0.72835	-0.69;-0.69	4.58	3.68	0.42216	.	.	.	.	.	T	0.51329	0.1668	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.15484	0.013	T	0.49560	-0.8927	9	0.87932	D	0	.	10.7976	0.46470	0.0:0.1919:0.8081:0.0	.	2135	P11277	SPTB1_HUMAN	D	2135	ENSP00000374371:H2135D;ENSP00000443882:H2135D	ENSP00000374371:H2135D	H	-	1	0	SPTB	64303139	0.304000	0.24472	0.002000	0.10522	0.218000	0.24690	2.752000	0.47516	1.274000	0.44362	0.455000	0.32223	CAC		0.652	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			41	233	0	0	0	0	41	233				
ZFP36L1	677	broad.mit.edu	37	14	69256568	69256568	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:69256568G>A	ENST00000439696.2	-	2	1000	c.699C>T	c.(697-699)agC>agT	p.S233S	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.S233S	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	233					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGTCATCGGCGCTCAGAATAG	0.627											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1		NA																	0				ovary(1)	1						c.(697-699)AGC>AGT		butyrate response factor 1							68.0	80.0	76.0					14																	69256568		2199	4288	6487	SO:0001819	synonymous_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256568G>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.699C>T	14.37:g.69256568G>A			OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Silent_p.S233S	p.S233S	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	829	-			233					Q13851	Silent	SNP	ENST00000439696.2	37	c.699C>T	CCDS9791.1																																																																																				0.627	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			26	269	0	0	0	0	26	269				
DCAF5	8816	broad.mit.edu	37	14	69520744	69520744	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:69520744C>T	ENST00000341516.5	-	9	2806	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000554215.1_Missense_Mutation_p.E805K|DCAF5_ENST00000557386.1_Missense_Mutation_p.E886K|DCAF5_ENST00000556847.1_Missense_Mutation_p.E805K	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	887					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CAGGCCATTTCAGACCCGCAA	0.567																																						uc001xkp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2659-2661)GAA>AAA		WD repeat domain 22							75.0	74.0	74.0					14																	69520744		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69520744C>T	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2659G>A	14.37:g.69520744C>T	ENSP00000341351:p.Glu887Lys					DCAF5_uc001xkq.2_Missense_Mutation_p.E886K	p.E887K	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			9	2878	-			887					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.2659G>A	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149184	0.37923	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.71103	-0.54;-0.37;-0.37;0.08	5.09	5.09	0.68999	.	0.069439	0.56097	D	0.000033	T	0.56202	0.1969	L	0.27053	0.805	0.80722	D	1	B;B	0.33238	0.403;0.281	B;B	0.25291	0.059;0.027	T	0.59825	-0.7381	10	0.49607	T	0.09	-8.781	14.4269	0.67222	0.1478:0.8522:0.0:0.0	.	886;887	G3V4J7;Q96JK2	.;DCAF5_HUMAN	K	887;805;805;886	ENSP00000341351:E887K;ENSP00000451551:E805K;ENSP00000452052:E805K;ENSP00000451845:E886K	ENSP00000341351:E887K	E	-	1	0	DCAF5	68590497	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.120000	0.50430	2.648000	0.89879	0.561000	0.74099	GAA		0.567	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		19	193	0	0	0	0	19	193				
SRSF5	6430	broad.mit.edu	37	14	70235606	70235606	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:70235606G>A	ENST00000553521.1	+	5	1742	c.289G>A	c.(289-291)Gat>Aat	p.D97N	SRSF5_ENST00000451983.2_Missense_Mutation_p.D97N|SRSF5_ENST00000555349.1_Missense_Mutation_p.D97N|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000554021.1_Missense_Mutation_p.D97N|SRSF5_ENST00000553635.1_Missense_Mutation_p.D94N|SRSF5_ENST00000553548.1_Missense_Mutation_p.D97N|SRSF5_ENST00000557154.1_Missense_Mutation_p.D97N|SRSF5_ENST00000394366.2_Missense_Mutation_p.D97N			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	97					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						ACCTCGAAATGATAGACGGTA	0.453																																						uc001xll.2		NA																	0					0						c.(289-291)GAT>AAT		splicing factor, arginine/serine-rich 5							101.0	88.0	92.0					14																	70235606		2203	4300	6503	SO:0001583	missense	6430				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr14:70235606G>A	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.289G>A	14.37:g.70235606G>A	ENSP00000452123:p.Asp97Asn					SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_Missense_Mutation_p.D97N|SFRS5_uc001xlo.2_Missense_Mutation_p.D97N|SFRS5_uc001xlp.2_Missense_Mutation_p.D97N|SFRS5_uc001xlq.2_Missense_Mutation_p.D94N	p.D97N	NM_006925	NP_008856	Q13243	SRSF5_HUMAN		all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154)	5	1740	+			97					O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	37	c.289G>A	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347004	0.24426	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553548;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	T;T;T;T;T;T;T;T;T	0.74106	3.17;3.17;-0.81;-0.81;3.17;-0.81;2.43;-0.81;-0.81	5.42	5.42	0.78866	.	.	.	.	.	T	0.60996	0.2312	N	0.24115	0.695	0.47276	D	0.999376	B;B;B	0.28026	0.011;0.198;0.008	B;B;B	0.19666	0.021;0.026;0.006	T	0.58323	-0.7656	9	0.11794	T	0.64	.	19.2161	0.93778	0.0:0.0:1.0:0.0	.	94;97;97	Q13243-3;Q6FGE0;Q13243	.;.;SRSF5_HUMAN	N	97;97;97;97;97;97;94;97;97	ENSP00000452123:D97N;ENSP00000377892:D97N;ENSP00000452400:D97N;ENSP00000452449:D97N;ENSP00000451088:D97N;ENSP00000402734:D97N;ENSP00000451391:D94N;ENSP00000452090:D97N;ENSP00000450918:D97N	ENSP00000377892:D97N	D	+	1	0	SRSF5	69305359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.099000	0.64554	2.526000	0.85167	0.650000	0.86243	GAT		0.453	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465		28	108	0	0	0	0	28	108				
PCNX	22990	broad.mit.edu	37	14	71485846	71485846	+	Silent	SNP	C	C	T	rs531165168	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:71485846C>T	ENST00000304743.2	+	12	3563	c.3117C>T	c.(3115-3117)ctC>ctT	p.L1039L	PCNX_ENST00000238570.5_Silent_p.L1039L|PCNX_ENST00000439984.3_Silent_p.L928L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1039						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTTCTGCCTCGTCATAGCCA	0.423													C|||	2	0.000399361	0.0	0.0	5008	,	,		17113	0.002		0.0	False		,,,				2504	0.0					uc001xmo.2		NA																	0				ovary(1)	1						c.(3115-3117)CTC>CTT		pecanex-like 1							168.0	153.0	158.0					14																	71485846		2203	4300	6503	SO:0001819	synonymous_variant	22990					integral to membrane		g.chr14:71485846C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3117C>T	14.37:g.71485846C>T						PCNX_uc010are.1_Silent_p.L928L|PCNX_uc010arf.1_5'UTR	p.L1039L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	12	3563	+			1039			Helical; (Potential).		B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	c.3117C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	8.893	0.954418	0.18431	.	.	ENSG00000100731	ENST00000554691	.	.	.	5.55	1.57	0.23409	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24764	-1.0151	4	.	.	.	.	1.2211	0.01924	0.2111:0.1269:0.4034:0.2586	.	.	.	.	L	98	.	.	S	+	2	0	PCNX	70555599	0.995000	0.38212	1.000000	0.80357	0.976000	0.68499	0.345000	0.19979	0.276000	0.22118	-0.783000	0.03347	TCG		0.423	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		48	323	0	0	0	0	48	323				
STON2	85439	broad.mit.edu	37	14	81743806	81743806	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:81743806C>T	ENST00000267540.2	-	4	2049	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	STON2_ENST00000555447.1_Missense_Mutation_p.D617N|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	617	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACGAGGATGTCATTGAGGCCC	0.532																																						uc010tvu.1		NA																	0				skin(3)|pancreas(2)	5						c.(1849-1851)GAC>AAC		stonin 2							69.0	65.0	66.0					14																	81743806		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743806C>T	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1849G>A	14.37:g.81743806C>T	ENSP00000267540:p.Asp617Asn					STON2_uc001xvk.1_Missense_Mutation_p.D617N|STON2_uc010tvt.1_Missense_Mutation_p.D414N	p.D617N	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	2050	-			617			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.1849G>A	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647876	0.67358	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.21543	2.0;2.0	5.9	5.9	0.94986	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.56414	-0.7983	10	0.87932	D	0	-29.7185	20.2789	0.98501	0.0:1.0:0.0:0.0	.	617;617	Q8WXE9;G3V2T7	STON2_HUMAN;.	N	617;629;617	ENSP00000450857:D617N;ENSP00000267540:D617N	ENSP00000267540:D617N	D	-	1	0	STON2	80813559	1.000000	0.71417	0.553000	0.28255	0.744000	0.42396	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GAC		0.532	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		17	142	0	0	0	0	17	142				
STON2	85439	broad.mit.edu	37	14	81743896	81743896	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:81743896C>T	ENST00000267540.2	-	4	1959	c.1759G>A	c.(1759-1761)Gac>Aac	p.D587N	STON2_ENST00000555447.1_Missense_Mutation_p.D587N|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	587	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATCTGGTTGTCTCCTTTGCTC	0.507																																						uc010tvu.1		NA																	0				skin(3)|pancreas(2)	5						c.(1759-1761)GAC>AAC		stonin 2							100.0	85.0	90.0					14																	81743896		2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743896C>T	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1759G>A	14.37:g.81743896C>T	ENSP00000267540:p.Asp587Asn					STON2_uc001xvk.1_Missense_Mutation_p.D587N|STON2_uc010tvt.1_Missense_Mutation_p.D384N	p.D587N	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1960	-			587			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.1759G>A	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409573	0.62399	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.19394	2.15;2.15	5.9	5.9	0.94986	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	L	0.38175	1.15	0.50171	D	0.999859	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.01904	-1.1250	10	0.38643	T	0.18	-25.627	20.2789	0.98501	0.0:1.0:0.0:0.0	.	587;587	Q8WXE9;G3V2T7	STON2_HUMAN;.	N	587;599;587	ENSP00000450857:D587N;ENSP00000267540:D587N	ENSP00000267540:D587N	D	-	1	0	STON2	80813649	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.160000	0.71862	2.788000	0.95919	0.650000	0.86243	GAC		0.507	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		14	152	0	0	0	0	14	152				
UNC79	57578	broad.mit.edu	37	14	94103615	94103615	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:94103615G>C	ENST00000393151.2	+	33	5887	c.5887G>C	c.(5887-5889)Gac>Cac	p.D1963H	UNC79_ENST00000555664.1_Missense_Mutation_p.D1924H|UNC79_ENST00000256339.4_Missense_Mutation_p.D1786H|UNC79_ENST00000553484.1_Missense_Mutation_p.D1985H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1963					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						cctaaaccctgacctggaggg	0.488																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(5422-5424)GAC>CAC		hypothetical protein LOC57578							143.0	104.0	117.0					14																	94103615		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94103615G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5887G>C	14.37:g.94103615G>C	ENSP00000376858:p.Asp1963His					KIAA1409_uc001ybs.1_Missense_Mutation_p.D1786H	p.D1808H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	31	5505	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1963					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.5422G>C		.	.	.	.	.	.	.	.	.	.	G	14.81	2.645630	0.47258	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.19105	2.17;2.18;2.17;2.17	5.34	5.34	0.76211	.	0.235256	0.40385	N	0.001109	T	0.14614	0.0353	N	0.14661	0.345	0.38394	D	0.945494	B	0.06786	0.001	B	0.04013	0.001	T	0.05305	-1.0893	10	0.72032	D	0.01	-6.7368	14.731	0.69383	0.0:0.0:1.0:0.0	.	1985	C9JQL1	.	H	1786;1924;1985;1963;1985	ENSP00000256339:D1786H;ENSP00000450868:D1924H;ENSP00000451360:D1985H;ENSP00000376858:D1963H	ENSP00000256339:D1786H	D	+	1	0	KIAA1409	93173368	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.306000	0.59117	2.937000	0.99478	0.650000	0.86243	GAC		0.488	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		15	56	0	0	0	0	15	56				
BDKRB1	623	broad.mit.edu	37	14	96730571	96730571	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:96730571G>C	ENST00000216629.6	+	3	1158	c.552G>C	c.(550-552)ctG>ctC	p.L184L	BDKRB1_ENST00000553356.1_Silent_p.L184L|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	184					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TCCCAGATCTGAACATCACCG	0.592																																						uc001yfh.2		NA																	0				ovary(3)	3						c.(550-552)CTG>CTC		bradykinin receptor B1							75.0	69.0	71.0					14																	96730571		2203	4300	6503	SO:0001819	synonymous_variant	623				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730571G>C	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.552G>C	14.37:g.96730571G>C						BDKRB1_uc010avn.2_Silent_p.L184L	p.L184L	NM_000710	NP_000701	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	760	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	184			Extracellular (Potential).		A8K7F5|Q546S7|Q8N0Y8	Silent	SNP	ENST00000216629.6	37	c.552G>C	CCDS9943.1																																																																																				0.592	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			32	175	0	0	0	0	32	175				
ATG2B	55102	broad.mit.edu	37	14	96777489	96777489	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr14:96777489C>T	ENST00000359933.4	-	28	5019	c.4126G>A	c.(4126-4128)Gat>Aat	p.D1376N	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1376					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCTTCATATCTGCCTTGTTA	0.448																																						uc001yfi.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(4126-4128)GAT>AAT		ATG2 autophagy related 2 homolog B							200.0	188.0	192.0					14																	96777489		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96777489C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4126G>A	14.37:g.96777489C>T	ENSP00000353010:p.Asp1376Asn						p.D1376N	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	28	4491	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1376					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.4126G>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341183	0.81911	.	.	ENSG00000066739	ENST00000359933	T	0.09445	2.98	5.48	4.59	0.56863	.	0.411574	0.27109	N	0.020885	T	0.07458	0.0188	N	0.14661	0.345	0.30204	N	0.798335	B	0.17852	0.024	B	0.21917	0.037	T	0.14531	-1.0469	10	0.19590	T	0.45	.	14.1761	0.65542	0.0:0.9283:0.0:0.0717	.	1376	Q96BY7	ATG2B_HUMAN	N	1376	ENSP00000353010:D1376N	ENSP00000261834:D20N	D	-	1	0	ATG2B	95847242	0.988000	0.35896	0.005000	0.12908	0.602000	0.36980	4.225000	0.58600	1.311000	0.45024	0.655000	0.94253	GAT		0.448	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		35	347	0	0	0	0	35	347				
RTF1	23168	broad.mit.edu	37	15	41762577	41762577	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:41762577G>T	ENST00000389629.4	+	7	1024	c.1012G>T	c.(1012-1014)Gat>Tat	p.D338Y		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	338	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ATCATCGTCTGATGAAGAAGA	0.443																																						uc001zny.2		NA																	0				ovary(2)	2						c.(1012-1014)GAT>TAT		Paf1/RNA polymerase II complex component							251.0	244.0	247.0					15																	41762577		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41762577G>T	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1012G>T	15.37:g.41762577G>T	ENSP00000374280:p.Asp338Tyr						p.D338Y	NM_015138	NP_055953	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	7	1024	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	338			Glu-rich.		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.1012G>T	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729367	0.69074	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.69450	-0.5142	9	0.59425	D	0.04	-19.4551	19.3713	0.94488	0.0:0.0:1.0:0.0	.	338	Q92541	RTF1_HUMAN	Y	338	.	ENSP00000374280:D338Y	D	+	1	0	RTF1	39549869	1.000000	0.71417	0.896000	0.35187	0.415000	0.31203	9.476000	0.97823	2.575000	0.86900	0.655000	0.94253	GAT		0.443	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		41	369	1	0	9.39e-22	1.04e-21	41	369				
TP53BP1	7158	broad.mit.edu	37	15	43749026	43749026	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:43749026C>G	ENST00000263801.3	-	12	2017	c.1765G>C	c.(1765-1767)Gat>Cat	p.D589H	TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Missense_Mutation_p.D594H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.D594H|TP53BP1_ENST00000382044.4_Missense_Mutation_p.D594H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	589					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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 transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTGTATCATCTCCCTTTGTT	0.403								Other conserved DNA damage response genes																														uc001zrs.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(1765-1767)GAT>CAT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							202.0	167.0	179.0					15																	43749026		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43749026C>G	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1765G>C	15.37:g.43749026C>G	ENSP00000263801:p.Asp589His					TP53BP1_uc010udp.1_Missense_Mutation_p.D589H|TP53BP1_uc001zrq.3_Missense_Mutation_p.D594H|TP53BP1_uc001zrr.3_Missense_Mutation_p.D594H|TP53BP1_uc010udq.1_Missense_Mutation_p.D594H	p.D589H	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	1913	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	589					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.1765G>C	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	7.701	0.693200	0.15039	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	4.52	-0.851	0.10716	.	0.630686	0.15474	N	0.260444	T	0.48519	0.1504	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.32526	0.061;0.004;0.374;0.374	B;B;B;B	0.41764	0.033;0.007;0.366;0.366	T	0.47328	-0.9126	10	0.44086	T	0.13	0.0045	5.1099	0.14804	0.0:0.456:0.1415:0.4025	.	594;589;594;594	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	H	589;594;594;594;594	ENSP00000263801:D589H;ENSP00000371475:D594H;ENSP00000371470:D594H;ENSP00000393497:D594H;ENSP00000388028:D594H	ENSP00000263801:D589H	D	-	1	0	TP53BP1	41536318	0.000000	0.05858	0.000000	0.03702	0.921000	0.55340	0.338000	0.19858	-0.238000	0.09724	0.563000	0.77884	GAT		0.403	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			70	156	0	0	0	0	70	156				
FBN1	2200	broad.mit.edu	37	15	48796097	48796097	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:48796097C>G	ENST00000316623.5	-	17	2455	c.2000G>C	c.(1999-2001)aGa>aCa	p.R667T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	667	TB 3.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACACTGGCCTCTCTTGTATCC	0.488																																						uc001zwx.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(1999-2001)AGA>ACA		fibrillin 1 precursor							153.0	133.0	139.0					15																	48796097		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48796097C>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2000G>C	15.37:g.48796097C>G	ENSP00000325527:p.Arg667Thr						p.R667T	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	17	2328	-		all_lung(180;0.00279)	667			TB 3.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2000G>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356792	0.82243	.	.	ENSG00000166147	ENST00000316623	D	0.92397	-3.03	6.06	6.06	0.98353	Matrix fibril-associated (2);TGF-beta binding (1);	0.099447	0.64402	D	0.000002	D	0.89684	0.6786	L	0.34521	1.04	0.80722	D	1	P	0.51791	0.948	P	0.46975	0.533	D	0.86609	0.1871	10	0.15952	T	0.53	.	19.1847	0.93639	0.0:1.0:0.0:0.0	.	667	P35555	FBN1_HUMAN	T	667	ENSP00000325527:R667T	ENSP00000325527:R667T	R	-	2	0	FBN1	46583389	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	3.915000	0.56409	2.882000	0.98803	0.655000	0.94253	AGA		0.488	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			13	112	0	0	0	0	13	112				
SHC4	399694	broad.mit.edu	37	15	49176472	49176472	+	Silent	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:49176472G>T	ENST00000332408.4	-	4	1241	c.813C>A	c.(811-813)ctC>ctA	p.L271L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	271	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TCATCAATGTGAGACTGCATG	0.338																																						uc001zxb.1		NA																	0				ovary(3)|pancreas(2)	5						c.(811-813)CTC>CTA		rai-like protein							106.0	102.0	103.0					15																	49176472		2197	4295	6492	SO:0001819	synonymous_variant	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49176472G>T	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.813C>A	15.37:g.49176472G>T							p.L271L	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	4	1242	-		all_lung(180;0.00466)	271			PID.		Q6UXQ3|Q8IYW3	Silent	SNP	ENST00000332408.4	37	c.813C>A	CCDS10130.1																																																																																				0.338	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		18	63	1	0	2.94e-08	3.15e-08	18	63				
USP3	9960	broad.mit.edu	37	15	63866568	63866568	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:63866568G>T	ENST00000380324.3	+	11	1191	c.1062G>T	c.(1060-1062)aaG>aaT	p.K354N	USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.K265N|USP3_ENST00000540797.1_Missense_Mutation_p.K310N|USP3_ENST00000539772.1_Missense_Mutation_p.K105N|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000268049.7_Missense_Mutation_p.K332N|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.K337N|USP3_ENST00000536001.1_3'UTR	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	354	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGCGCTCTAAGAATCAAGAAA	0.323																																						uc002amf.2		NA																	0				lung(1)	1						c.(1060-1062)AAG>AAT		ubiquitin thiolesterase 3							100.0	98.0	99.0					15																	63866568		2203	4300	6503	SO:0001583	missense	9960				DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr15:63866568G>T	AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1062G>T	15.37:g.63866568G>T	ENSP00000369681:p.Lys354Asn					USP3_uc010uii.1_RNA|USP3_uc002amg.2_Missense_Mutation_p.K269N|USP3_uc002amh.2_Missense_Mutation_p.K332N|USP3_uc010uij.1_Missense_Mutation_p.K310N|USP3_uc010uik.1_Missense_Mutation_p.K105N|USP3_uc010bgs.2_Missense_Mutation_p.K337N|USP3_uc002ami.2_Missense_Mutation_p.K185N	p.K354N	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN		GBM - Glioblastoma multiforme(80;0.0187)	11	1191	+			354					B4DVU5|F5H1A6|Q8WVD0	Missense_Mutation	SNP	ENST00000380324.3	37	c.1062G>T	CCDS32265.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230219	0.79688	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	T;T;T;T	0.32515	1.94;2.05;2.15;1.45	5.84	5.84	0.93424	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.61703	1.905	0.51482	D	0.999928	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	P;D;D;D	0.72075	0.905;0.972;0.976;0.962	T	0.27226	-1.0080	10	0.20519	T	0.43	.	13.7675	0.63004	0.079:0.0:0.921:0.0	.	310;310;332;354	F5H1A6;B4DVU5;Q6JHV3;Q9Y6I4	.;.;.;UBP3_HUMAN	N	310;354;332;105;269;185	ENSP00000445828:K310N;ENSP00000369681:K354N;ENSP00000268049:K332N;ENSP00000445642:K105N	ENSP00000268049:K332N	K	+	3	2	USP3	61653621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.443000	0.52907	2.758000	0.94735	0.591000	0.81541	AAG		0.323	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417773.1			4	77	1	0	0.00116845	0.00120958	4	77				
HERC1	8925	broad.mit.edu	37	15	63966767	63966767	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:63966767T>A	ENST00000443617.2	-	38	7707	c.7620A>T	c.(7618-7620)gaA>gaT	p.E2540D	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2540					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGTGGCCATTTTCAGCCAGAA	0.483																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(7618-7620)GAA>GAT		hect domain and RCC1-like domain 1							73.0	71.0	71.0					15																	63966767		2009	4192	6201	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63966767T>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7620A>T	15.37:g.63966767T>A	ENSP00000390158:p.Glu2540Asp						p.E2540D	NM_003922	NP_003913	Q15751	HERC1_HUMAN			38	7768	-			2540					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.7620A>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763896	0.31228	.	.	ENSG00000103657	ENST00000443617	T	0.24723	1.84	5.87	0.782	0.18567	.	0.063895	0.64402	D	0.000012	T	0.09291	0.0229	N	0.04508	-0.205	0.33772	D	0.623186	B	0.02656	0.0	B	0.04013	0.001	T	0.22871	-1.0204	10	0.20519	T	0.43	.	6.5202	0.22271	0.1311:0.4557:0.0:0.4132	.	2540	Q15751	HERC1_HUMAN	D	2540	ENSP00000390158:E2540D	ENSP00000390158:E2540D	E	-	3	2	HERC1	61753820	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.561000	0.23515	0.087000	0.17167	0.528000	0.53228	GAA		0.483	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		9	18	0	0	0	0	9	18				
IGDCC4	57722	broad.mit.edu	37	15	65702644	65702644	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:65702644G>C	ENST00000352385.2	-	3	644	c.435C>G	c.(433-435)ttC>ttG	p.F145L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	145	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGTGCAGAGAGAAGTCTGCGA	0.557																																						uc002aou.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(433-435)TTC>TTG		immunoglobulin superfamily, DCC subclass, member							59.0	56.0	57.0					15																	65702644		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65702644G>C		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.435C>G	15.37:g.65702644G>C	ENSP00000319623:p.Phe145Leu						p.F145L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			3	645	-			145			Ig-like C2-type 2.|Extracellular (Potential).		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.435C>G	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440344	0.63067	.	.	ENSG00000103742	ENST00000352385	T	0.71461	-0.57	5.63	2.32	0.28847	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053910	0.85682	D	0.000000	T	0.73644	0.3613	M	0.81802	2.56	0.52099	D	0.999941	P	0.35575	0.51	B	0.42462	0.388	T	0.75099	-0.3437	10	0.87932	D	0	-24.6523	9.5455	0.39277	0.3118:0.0:0.6882:0.0	.	145	Q8TDY8	IGDC4_HUMAN	L	145	ENSP00000319623:F145L	ENSP00000319623:F145L	F	-	3	2	IGDCC4	63489697	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	2.174000	0.42482	0.750000	0.32877	-0.136000	0.14681	TTC		0.557	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		15	113	0	0	0	0	15	113				
RPL4	6124	broad.mit.edu	37	15	66791763	66791763	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:66791763C>T	ENST00000307961.6	-	10	1358	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	SNAPC5_ENST00000307979.7_5'Flank|SNAPC5_ENST00000316634.5_5'Flank|SNAPC5_ENST00000566658.1_5'Flank|SNAPC5_ENST00000563480.2_5'Flank|RPL4_ENST00000568588.1_Silent_p.E328E|MIR4512_ENST00000583257.1_RNA|SNORD18C_ENST00000362704.1_RNA|SNAPC5_ENST00000395589.2_5'Flank|SNORD18B_ENST00000365659.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	422	Lys-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGGCTTCTTCTCCTCTGTAG	0.413																																						uc002apv.2		NA																	0					0						c.(1264-1266)GAG>GAA		ribosomal protein L4							77.0	75.0	76.0					15																	66791763		2201	4299	6500	SO:0001819	synonymous_variant	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66791763C>T	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1266G>A	15.37:g.66791763C>T						SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Silent_p.E328E|RPL4_uc002apw.2_Silent_p.E328E|RPL4_uc002apx.2_Silent_p.E328E	p.E422E	NM_000968	NP_000959	P36578	RL4_HUMAN			10	1322	-			422			Lys-rich.		A8K502|P39029|Q4VBR0|Q969Z9	Silent	SNP	ENST00000307961.6	37	c.1266G>A	CCDS10218.1																																																																																				0.413	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2	NM_000968		9	156	0	0	0	0	9	156				
HCN4	10021	broad.mit.edu	37	15	73659999	73659999	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:73659999C>T	ENST00000261917.3	-	1	1606	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	205					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGCGCACCTCGGCCTCCGGG	0.682																																						uc002avp.2		NA																	0				ovary(5)|liver(1)	6						c.(613-615)GAG>AAG		hyperpolarization activated cyclic							20.0	23.0	22.0					15																	73659999		2195	4294	6489	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73659999C>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.613G>A	15.37:g.73659999C>T	ENSP00000261917:p.Glu205Lys						p.E205K	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	1	1607	-			205			Cytoplasmic (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.613G>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080040	0.76528	.	.	ENSG00000138622	ENST00000261917	D	0.98060	-4.69	4.04	4.04	0.47022	.	.	.	.	.	D	0.94029	0.8087	L	0.46157	1.445	0.46823	D	0.999217	B	0.32507	0.373	B	0.22152	0.038	D	0.92019	0.5624	9	0.17369	T	0.5	.	10.3547	0.43956	0.0:0.908:0.0:0.092	.	205	Q9Y3Q4	HCN4_HUMAN	K	205	ENSP00000261917:E205K	ENSP00000261917:E205K	E	-	1	0	HCN4	71447052	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	3.575000	0.53870	1.976000	0.57569	0.555000	0.69702	GAG		0.682	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		7	61	0	0	0	0	7	61				
NPTN	27020	broad.mit.edu	37	15	73862516	73862516	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:73862516C>T	ENST00000345330.4	-	6	1286	c.1089G>A	c.(1087-1089)agG>agA	p.R363R	NPTN_ENST00000564551.1_5'Flank|NPTN_ENST00000351217.6_Silent_p.R247R|NPTN_ENST00000542234.1_Silent_p.R158R|NPTN_ENST00000563691.1_Silent_p.R363R|NPTN_ENST00000545878.1_Silent_p.R363R|NPTN_ENST00000562924.1_Silent_p.R247R	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	363					homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTGGCCTCTTCCTCTTCTCAT	0.512																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)	uc002avs.2		NA																	0					0						c.(1087-1089)AGG>AGA		neuroplastin isoform b precursor							104.0	98.0	100.0					15																	73862516		2198	4297	6495	SO:0001819	synonymous_variant	27020				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding	g.chr15:73862516C>T	AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17867	protein-coding gene	gene with protein product		612820	"""stromal cell derived factor receptor 1"""	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.1089G>A	15.37:g.73862516C>T						NPTN_uc010bjc.2_Silent_p.R363R|NPTN_uc002avt.2_Silent_p.R247R|NPTN_uc002avr.2_Silent_p.R247R|NPTN_uc010ula.1_Silent_p.R158R	p.R363R	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN			6	1286	-			363			Cytoplasmic (Potential).		B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Silent	SNP	ENST00000345330.4	37	c.1089G>A	CCDS10249.1																																																																																				0.512	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268980.1	NM_012428		42	285	0	0	0	0	42	285				
ETFA	2108	broad.mit.edu	37	15	76584999	76584999	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:76584999G>T	ENST00000557943.1	-	3	309	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	ETFA_ENST00000560726.1_Intron|ETFA_ENST00000559602.1_Intron|ETFA_ENST00000433983.2_Missense_Mutation_p.L28M	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	77	Domain I. {ECO:0000269|PubMed:8962055}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TGAGCCACCAGAACTTTTGCT	0.358																																						uc002bbt.2		NA																	0					0						c.(229-231)CTG>ATG		electron transfer flavoprotein, alpha							126.0	121.0	123.0					15																	76584999		2197	4294	6491	SO:0001583	missense	2108				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr15:76584999G>T	J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"""glutaric aciduria II"""	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.229C>A	15.37:g.76584999G>T	ENSP00000452762:p.Leu77Met					ETFA_uc010bkq.1_Missense_Mutation_p.L28M|ETFA_uc002bbu.1_Missense_Mutation_p.L77M	p.L77M	NM_000126	NP_000117	P13804	ETFA_HUMAN			3	310	-			77					B4DT43|Q53XN3	Missense_Mutation	SNP	ENST00000557943.1	37	c.229C>A	CCDS32299.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851537	0.71719	.	.	ENSG00000140374	ENST00000433983;ENST00000267950	D	0.88509	-2.39	5.6	4.69	0.59074	Electron transfer flavoprotein, alpha/beta-subunit, N-terminal (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.068192	0.64402	D	0.000011	D	0.93239	0.7846	M	0.80982	2.52	0.80722	D	1	P;D;D	0.55385	0.947;0.971;0.971	D;D;D	0.66351	0.929;0.943;0.943	D	0.93239	0.6624	10	0.72032	D	0.01	-0.0774	9.5484	0.39295	0.1572:0.0:0.8428:0.0	.	28;77;77	B4DT43;Q53XN3;P13804	.;.;ETFA_HUMAN	M	28;77	ENSP00000399273:L28M	ENSP00000267950:L77M	L	-	1	2	ETFA	74372054	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	4.618000	0.61211	1.369000	0.46134	0.655000	0.94253	CTG		0.358	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419302.2	NM_000126		33	176	1	0	1.6e-16	1.76e-16	33	176				
LINGO1	84894	broad.mit.edu	37	15	77906720	77906720	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:77906720G>A	ENST00000355300.6	-	2	1703	c.1529C>T	c.(1528-1530)gCc>gTc	p.A510V	LINGO1_ENST00000561030.1_Missense_Mutation_p.A504V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	510	Ig-like C2-type.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ATGCAGGTGGGCGGGCATGGA	0.657																																						uc002bct.1		NA																	0				ovary(1)|lung(1)	2						c.(1528-1530)GCC>GTC		leucine-rich repeat neuronal 6A							50.0	54.0	53.0					15																	77906720		2122	4225	6347	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77906720G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1529C>T	15.37:g.77906720G>A	ENSP00000347451:p.Ala510Val					LINGO1_uc002bcu.1_Missense_Mutation_p.A504V	p.A510V	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	1581	-			510			Extracellular (Potential).|Ig-like C2-type.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.1529C>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638907	0.29157	.	.	ENSG00000169783	ENST00000355300	T	0.68479	-0.33	5.08	5.08	0.68730	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44871	0.1314	N	0.04203	-0.255	0.80722	D	1	B	0.29590	0.25	B	0.23716	0.048	T	0.42015	-0.9476	10	0.20519	T	0.43	.	18.4819	0.90815	0.0:0.0:1.0:0.0	.	510	Q96FE5	LIGO1_HUMAN	V	510	ENSP00000347451:A510V	ENSP00000347451:A510V	A	-	2	0	LINGO1	75693775	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.876000	0.87215	2.359000	0.80004	0.462000	0.41574	GCC		0.657	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		21	71	0	0	0	0	21	71				
ADAMTS7	11173	broad.mit.edu	37	15	79058055	79058055	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr15:79058055C>T	ENST00000388820.4	-	19	4408	c.4198G>A	c.(4198-4200)Gaa>Aaa	p.E1400K	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1400					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCCCCGCTTCAGCCAGGCTG	0.692																																						uc002bej.3		NA																	0					0						c.(4198-4200)GAA>AAA		ADAM metallopeptidase with thrombospondin type 1							25.0	32.0	30.0					15																	79058055		2174	4263	6437	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79058055C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4198G>A	15.37:g.79058055C>T	ENSP00000373472:p.Glu1400Lys					ADAMTS7_uc010und.1_3'UTR	p.E1400K	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			19	4409	-			1400					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.4198G>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	c	6.134	0.392875	0.11638	.	.	ENSG00000136378	ENST00000388820	T	0.59364	0.27	3.43	0.332	0.15938	.	1.033540	0.07720	N	0.943508	T	0.40791	0.1131	L	0.52573	1.65	0.09310	N	1	P	0.42456	0.78	B	0.34931	0.192	T	0.19484	-1.0304	10	0.05721	T	0.95	.	6.5056	0.22194	0.0:0.6626:0.0:0.3374	.	1400	Q9UKP4	ATS7_HUMAN	K	1400	ENSP00000373472:E1400K	ENSP00000373472:E1400K	E	-	1	0	ADAMTS7	76845110	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.033000	0.13754	-0.174000	0.10743	-0.371000	0.07208	GAA		0.692	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		15	154	0	0	0	0	15	154				
MSLNL	401827	broad.mit.edu	37	16	823207	823207	+	Silent	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:823207G>T	ENST00000442466.1	-	9	1007	c.1008C>A	c.(1006-1008)ctC>ctA	p.L336L	MIR662_ENST00000384847.1_RNA|MSLNL_ENST00000293892.3_Silent_p.L687L			Q96KJ4	MSLNL_HUMAN	mesothelin-like	336					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTTGGTTCTGAGGATGCAGC	0.627																																						uc002cjz.1		NA																	0				breast(3)|ovary(1)	4						c.(2059-2061)CTC>CTA		mesothelin-like							56.0	65.0	62.0					16																	823207		2143	4234	6377	SO:0001819	synonymous_variant	401827				cell adhesion	integral to membrane		g.chr16:823207G>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1008C>A	16.37:g.823207G>T							p.L687L	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			10	2061	-			336			Extracellular (Potential).			Silent	SNP	ENST00000442466.1	37	c.2061C>A																																																																																					0.627	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		11	137	1	0	1.62e-10	1.75e-10	11	137				
GNPTG	84572	broad.mit.edu	37	16	1400230	1400230	+	5'Flank	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:1400230G>C	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_Missense_Mutation_p.P178A	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit						carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GCAAGGTCTGGAAAGCCTGAC	0.592																																						uc002cll.2		NA																	0					0						c.(532-534)CCA>GCA		hypothetical protein LOC115939							35.0	34.0	34.0					16																	1400230		2198	4298	6496	SO:0001631	upstream_gene_variant	115939				rRNA processing			g.chr16:1400230G>C	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835		16.37:g.1400230G>C	Exception_encountered					GNPTG_uc002clm.2_5'Flank	p.P178A	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN			4	600	-		Hepatocellular(780;0.0893)	178					B2R556|Q6XYD7|Q96L13	Missense_Mutation	SNP	ENST00000204679.4	37	c.532C>G	CCDS10436.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.778397	0.00634	.	.	ENSG00000007520	ENST00000007390	.	.	.	5.12	-1.24	0.09435	Domain of unknown function DUF367 (2);	0.904984	0.09692	N	0.768251	T	0.25494	0.0620	N	0.21545	0.675	0.09310	N	1	B	0.12013	0.005	B	0.19666	0.026	T	0.23619	-1.0183	9	0.30854	T	0.27	0.0243	6.408	0.21676	0.3802:0.1589:0.461:0.0	.	178	Q9UJK0	TSR3_HUMAN	A	178	.	ENSP00000007390:P178A	P	-	1	0	C16orf42	1340231	0.696000	0.27757	0.027000	0.17364	0.016000	0.09150	0.400000	0.20932	-0.573000	0.05998	-0.367000	0.07326	CCA		0.592	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		5	47	0	0	0	0	5	47				
CRAMP1L	57585	broad.mit.edu	37	16	1706343	1706343	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:1706343G>A	ENST00000397412.3	+	10	1684	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	CRAMP1L_ENST00000262317.4_Intron|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.E526K|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.E529K|LA16c-431H6.6_ENST00000454337.1_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	529						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GACCCCTGCAGAAGGCAGGGA	0.677																																						uc010uvh.1		NA																	0					0						c.(1585-1587)GAA>AAA		Crm, cramped-like							14.0	16.0	15.0					16																	1706343		1895	4044	5939	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1706343G>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.1585G>A	16.37:g.1706343G>A	ENSP00000380559:p.Glu529Lys					CRAMP1L_uc002cmf.2_Intron	p.E529K	NM_020825	NP_065876	Q96RY5	CRML_HUMAN			9	1585	+			529					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.1585G>A	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286993	0.23478	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	4.03	4.03	0.46877	.	0.944361	0.08701	N	0.906443	T	0.41581	0.1165	L	0.27053	0.805	0.80722	D	1	P	0.39480	0.675	B	0.39379	0.298	T	0.26360	-1.0105	9	0.06099	T	0.92	-5.7229	16.3475	0.83150	0.0:0.0:1.0:0.0	.	529	Q96RY5	CRML_HUMAN	K	529;529;526	.	ENSP00000293925:E529K	E	+	1	0	CRAMP1L	1646344	1.000000	0.71417	0.018000	0.16275	0.163000	0.22366	5.935000	0.70145	2.072000	0.62099	0.655000	0.94253	GAA		0.677	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			10	19	0	0	0	0	10	19				
CCP110	9738	broad.mit.edu	37	16	19543747	19543747	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:19543747G>C	ENST00000381396.5	+	3	398	c.151G>C	c.(151-153)Gag>Cag	p.E51Q	CCP110_ENST00000396208.2_Missense_Mutation_p.E51Q|CCP110_ENST00000396212.2_Missense_Mutation_p.E51Q	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	51	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GCTTAACATTGAGAAAAGAAA	0.343																																						uc002dgl.3		NA																	0					0						c.(151-153)GAG>CAG		RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;							80.0	74.0	76.0					16																	19543747		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19543747G>C	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.151G>C	16.37:g.19543747G>C	ENSP00000370803:p.Glu51Gln					CP110_uc002dgk.3_Missense_Mutation_p.E51Q	p.E51Q			O43303	CP110_HUMAN			3	398	+			51			Potential.|CEP97 binding.		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.151G>C	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225388	0.58668	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.18960	2.18;2.18;2.18	5.31	5.31	0.75309	.	0.056787	0.64402	D	0.000002	T	0.45558	0.1348	L	0.59436	1.845	0.46749	D	0.999182	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.25433	-1.0132	10	0.51188	T	0.08	-2.1676	19.3247	0.94256	0.0:0.0:1.0:0.0	.	51;51	O43303;O43303-2	CP110_HUMAN;.	Q	51	ENSP00000379515:E51Q;ENSP00000370803:E51Q;ENSP00000379511:E51Q	ENSP00000370803:E51Q	E	+	1	0	CCP110	19451248	1.000000	0.71417	0.982000	0.44146	0.238000	0.25445	6.981000	0.76166	2.624000	0.88883	0.563000	0.77884	GAG		0.343	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		16	66	0	0	0	0	16	66				
SEZ6L2	26470	broad.mit.edu	37	16	29884920	29884920	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:29884920G>A	ENST00000308713.5	-	13	2762	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	SEZ6L2_ENST00000350527.3_Silent_p.L675L|SEZ6L2_ENST00000346932.5_Silent_p.L631L|SEZ6L2_ENST00000537485.1_Silent_p.L701L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	745	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTAGCAGGTGAGCATGGCTG	0.687																																						uc002duq.3		NA																	0				ovary(1)|skin(1)	2						c.(2233-2235)CTC>CTT		seizure related 6 homolog (mouse)-like 2 isoform							51.0	46.0	48.0					16																	29884920		2197	4300	6497	SO:0001819	synonymous_variant	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29884920G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.2235C>T	16.37:g.29884920G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.L675L|SEZ6L2_uc002dur.3_Silent_p.L675L|SEZ6L2_uc002dus.3_Silent_p.L631L|SEZ6L2_uc010vec.1_Silent_p.L745L|SEZ6L2_uc010ved.1_Silent_p.L701L	p.L745L	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			13	2475	-			745			Sushi 4.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Silent	SNP	ENST00000308713.5	37	c.2235C>T	CCDS10659.1																																																																																				0.687	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		11	65	0	0	0	0	11	65				
SEPT1	1731	broad.mit.edu	37	16	30387201	30387201	+	IGR	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30387201T>C	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Missense_Mutation_p.F22L			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CTTCTCCATGTTCGACCAGAC	0.592																																						uc002dxv.1		NA																	0					0						c.(64-66)TTC>CTC		myosin light chain, phosphorylatable, fast							52.0	54.0	53.0					16																	30387201		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30387201T>C	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387201T>C							p.F22L	NM_013292	NP_037424	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		2	120	+			22					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.64T>C		.	.	.	.	.	.	.	.	.	.	T	18.22	3.575226	0.65878	.	.	ENSG00000180209	ENST00000322861	T	0.74947	-0.89	5.56	5.56	0.83823	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	L	0.38692	1.165	0.80722	D	1	B	0.12630	0.006	B	0.12837	0.008	T	0.62779	-0.6782	10	0.45353	T	0.12	.	14.7308	0.69379	0.0:0.0:0.0:1.0	.	22	Q96A32	MLRS_HUMAN	L	22	ENSP00000325239:F22L	ENSP00000325239:F22L	F	+	1	0	MYLPF	30294702	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	7.459000	0.80802	2.120000	0.65058	0.372000	0.22366	TTC		0.592	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		11	41	0	0	0	0	11	41				
PRR14	78994	broad.mit.edu	37	16	30666893	30666894	+	Missense_Mutation	DNP	TG	TG	AA			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30666893_30666894TG>AA	ENST00000542965.2	+	9	1841_1842	c.1385_1386TG>AA	c.(1384-1386)aTG>aAA	p.M462K	PRR14_ENST00000571654.1_3'UTR|FBRS_ENST00000356166.6_5'Flank|PRR14_ENST00000300835.4_Missense_Mutation_p.M462K			Q9BWN1	PRR14_HUMAN	proline rich 14	462										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CTTACACCAATGGGACTGCCTC	0.52																																						uc002dyy.2		NA																	0					0						c.(1384-1386)ATG>AAA		proline rich 14																																				SO:0001583	missense	78994							g.chr16:30666893_30666894TG>AA	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	Exception_encountered	16.37:g.30666893_30666894delinsAA	ENSP00000441641:p.Met462Lys					PRR14_uc002dyz.2_Missense_Mutation_p.M307K|PRR14_uc002dza.2_Missense_Mutation_p.M462K	p.M462K	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		10	1643_1644	+			462					Q8WTX2	Missense_Mutation	DNP	ENST00000542965.2	37	c.1385_1386TG>AA	CCDS10687.1																																																																																				0.520	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		7	39	0	0	0	0	7	39				
PHKG2	5261	broad.mit.edu	37	16	30767526	30767526	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:30767526C>G	ENST00000563588.1	+	7	819	c.580C>G	c.(580-582)Cta>Gta	p.L194V	PHKG2_ENST00000328273.7_Missense_Mutation_p.L194V|PHKG2_ENST00000424889.3_Missense_Mutation_p.L194V	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			CCCAGGGTATCTAGCGCCAGA	0.597																																						uc002dzk.1		NA																	0				ovary(1)	1						c.(580-582)CTA>GTA		phosphorylase kinase, gamma 2 (testis)							165.0	159.0	161.0					16																	30767526		2197	4300	6497	SO:0001583	missense	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30767526C>G	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.580C>G	16.37:g.30767526C>G	ENSP00000455607:p.Leu194Val					PHKG2_uc002dzi.1_Missense_Mutation_p.L194V|PHKG2_uc002dzj.1_Missense_Mutation_p.L92V	p.L194V	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		7	673	+			194			Protein kinase.		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.580C>G	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199178	0.58126	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.40756	1.02;1.02	5.53	4.38	0.52667	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37906	N	0.001893	T	0.41811	0.1175	N	0.17564	0.495	0.53688	D	0.999972	D;D	0.58268	0.982;0.978	D;D	0.68192	0.956;0.926	T	0.21724	-1.0237	10	0.40728	T	0.16	-2.2627	7.4182	0.27057	0.0:0.7696:0.0:0.2304	.	194;194	P15735;P15735-2	PHKG2_HUMAN;.	V	194	ENSP00000329968:L194V;ENSP00000388571:L194V	ENSP00000329968:L194V	L	+	1	2	PHKG2	30675027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.188000	0.32102	2.602000	0.87976	0.650000	0.86243	CTA		0.597	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		77	183	0	0	0	0	77	183				
NLRC5	84166	broad.mit.edu	37	16	57060138	57060138	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:57060138C>T	ENST00000262510.6	+	6	1508	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	NLRC5_ENST00000308149.7_Missense_Mutation_p.S428F|NLRC5_ENST00000436936.1_Missense_Mutation_p.S428F|NLRC5_ENST00000539144.1_Missense_Mutation_p.S428F	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	428	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCAGGCCAGTCTGTGGCCCTC	0.637																																						uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(1282-1284)TCT>TTT		nucleotide-binding oligomerization domains 27							68.0	67.0	67.0					16																	57060138		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57060138C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1283C>T	16.37:g.57060138C>T	ENSP00000262510:p.Ser428Phe					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.S233F|NLRC5_uc002ekl.2_Missense_Mutation_p.S233F|NLRC5_uc002ekm.2_Missense_Mutation_p.S233F|NLRC5_uc010ccr.1_RNA	p.S428F	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			6	1508	+		all_neural(199;0.225)	428			NACHT.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.1283C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967755	0.34754	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.74209	-0.63;-0.66;-0.82;-0.66	5.21	4.25	0.50352	.	0.848889	0.09631	N	0.776217	D	0.83778	0.5328	M	0.74647	2.275	0.09310	N	1	D;D;B;P	0.59357	0.985;0.985;0.192;0.903	P;P;B;P	0.56823	0.807;0.807;0.122;0.615	T	0.72541	-0.4262	10	0.66056	D	0.02	.	13.8809	0.63682	0.0:0.5216:0.4783:0.0	.	428;428;428;428	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;NLRC5_HUMAN	F	428	ENSP00000262510:S428F;ENSP00000308886:S428F;ENSP00000389739:S428F;ENSP00000441727:S428F	ENSP00000262510:S428F	S	+	2	0	NLRC5	55617639	0.001000	0.12720	0.712000	0.30502	0.192000	0.23643	0.993000	0.29680	1.159000	0.42565	0.561000	0.74099	TCT		0.637	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		72	111	0	0	0	0	72	111				
CHST5	23563	broad.mit.edu	37	16	75563052	75563052	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:75563052C>G	ENST00000336257.3	-	3	2625	c.1231G>C	c.(1231-1233)Gac>Cac	p.D411H	CHST5_ENST00000541075.1_Missense_Mutation_p.D417H|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	411					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGTTCTCAGTCAGGCGATGCC	0.662																																						uc002fei.2		NA																	0					0						c.(1231-1233)GAC>CAC		carbohydrate (N-acetylglucosamine 6-O)							30.0	24.0	26.0					16																	75563052		2198	4298	6496	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563052C>G	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.1231G>C	16.37:g.75563052C>G	ENSP00000338783:p.Asp411His					CHST5_uc002fej.1_Missense_Mutation_p.D417H	p.D411H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			3	2626	-			411			Lumenal (Potential).		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.1231G>C	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944806	0.34283	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.96967	-4.17;-4.19	2.84	0.58	0.17402	.	0.709485	0.12418	N	0.470682	D	0.88897	0.6562	N	0.08118	0	0.09310	N	1	B;B	0.34200	0.441;0.314	B;B	0.35073	0.195;0.095	T	0.83190	-0.0084	10	0.62326	D	0.03	.	5.3142	0.15847	0.0:0.3111:0.0:0.6889	.	417;411	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	H	411;417	ENSP00000338783:D411H;ENSP00000441220:D417H	ENSP00000338783:D411H	D	-	1	0	CHST5	74120553	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-1.200000	0.03029	0.326000	0.23384	0.313000	0.20887	GAC		0.662	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		14	28	0	0	0	0	14	28				
CHST5	23563	broad.mit.edu	37	16	75563522	75563522	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr16:75563522C>G	ENST00000336257.3	-	3	2155	c.761G>C	c.(760-762)tGg>tCg	p.W254S	CHST5_ENST00000541075.1_Missense_Mutation_p.W260S|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	254					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGCCTCCACCCACTTGCCGTT	0.731																																						uc002fei.2		NA																	0					0						c.(760-762)TGG>TCG		carbohydrate (N-acetylglucosamine 6-O)							30.0	35.0	33.0					16																	75563522		2177	4260	6437	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563522C>G	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.761G>C	16.37:g.75563522C>G	ENSP00000338783:p.Trp254Ser					CHST5_uc002fej.1_Missense_Mutation_p.W260S	p.W254S	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			3	2156	-			254			Lumenal (Potential).		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.761G>C	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.499835	0.01001	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.81659	-1.52;-1.52	2.84	1.83	0.25207	Sulfotransferase domain (1);	.	.	.	.	T	0.62660	0.2446	L	0.28274	0.84	0.37958	D	0.932865	B;B	0.16802	0.015;0.019	B;B	0.20577	0.018;0.03	T	0.50363	-0.8837	9	0.21014	T	0.42	.	2.4776	0.04580	0.2504:0.5036:0.0:0.246	.	260;254	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	S	254;260	ENSP00000338783:W254S;ENSP00000441220:W260S	ENSP00000338783:W254S	W	-	2	0	CHST5	74121023	0.206000	0.23470	0.844000	0.33320	0.052000	0.14988	1.792000	0.38754	0.472000	0.27344	0.313000	0.20887	TGG		0.731	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		31	68	0	0	0	0	31	68				
CLUH	23277	broad.mit.edu	37	17	2600219	2600219	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:2600219T>A	ENST00000570628.2	-	11	1970	c.1865A>T	c.(1864-1866)aAg>aTg	p.K622M	CLUH_ENST00000538975.1_Missense_Mutation_p.K622M|CLUH_ENST00000435359.1_Missense_Mutation_p.K622M			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	622					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GGCGGCCAGCTTCATAAAGAG	0.627																																						uc002fuy.1		NA																	0				breast(2)	2						c.(1864-1866)AAG>ATG		hypothetical protein LOC23277							15.0	17.0	16.0					17																	2600219		2027	4184	6211	SO:0001583	missense	23277						binding	g.chr17:2600219T>A	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1865A>T	17.37:g.2600219T>A	ENSP00000458986:p.Lys622Met					KIAA0664_uc002fux.1_Missense_Mutation_p.K554M|KIAA0664_uc010ckc.1_5'Flank	p.K622M	NM_015229	NP_056044	O75153	K0664_HUMAN			11	1951	-			622					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.1865A>T	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.480956	0.84747	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.82893	-1.66;-1.66	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.90556	0.7040	M	0.79258	2.445	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.947;0.971	D	0.91731	0.5396	10	0.87932	D	0	.	14.7158	0.69269	0.0:0.0:0.0:1.0	.	622;622	O75153;C9J6D7	K0664_HUMAN;.	M	622	ENSP00000388872:K622M;ENSP00000439628:K622M	ENSP00000320468:K622M	K	-	2	0	KIAA0664	2546969	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.584000	0.82572	2.158000	0.67659	0.482000	0.46254	AAG		0.627	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		6	8	0	0	0	0	6	8				
P2RX1	5023	broad.mit.edu	37	17	3803019	3803019	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:3803019C>T	ENST00000225538.3	-	8	1058	c.784G>A	c.(784-786)Gac>Aac	p.D262N		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	262					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CAGTCCAGGTCACAGTGCCAG	0.542																																						uc002fww.2		NA																	0				ovary(1)|skin(1)	2						c.(784-786)GAC>AAC		purinergic receptor P2X1							125.0	108.0	113.0					17																	3803019		2203	4300	6503	SO:0001583	missense	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3803019C>T	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.784G>A	17.37:g.3803019C>T	ENSP00000225538:p.Asp262Asn						p.D262N	NM_002558	NP_002549	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	8	1225	-			262			Extracellular (Potential).		Q9UK84	Missense_Mutation	SNP	ENST00000225538.3	37	c.784G>A	CCDS11040.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893790	0.52121	.	.	ENSG00000108405	ENST00000225538	T	0.05649	3.41	5.37	5.37	0.77165	.	0.045838	0.85682	D	0.000000	T	0.05502	0.0145	N	0.17082	0.46	0.45567	D	0.998517	P	0.43431	0.807	B	0.41946	0.371	T	0.49476	-0.8936	10	0.08599	T	0.76	-24.7764	18.0887	0.89466	0.0:1.0:0.0:0.0	.	262	P51575	P2RX1_HUMAN	N	262	ENSP00000225538:D262N	ENSP00000225538:D262N	D	-	1	0	P2RX1	3749768	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.691000	0.54720	2.520000	0.84964	0.643000	0.83706	GAC		0.542	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		7	109	0	0	0	0	7	109				
ZZEF1	23140	broad.mit.edu	37	17	4015950	4015950	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4015950A>C	ENST00000381638.2	-	5	1143	c.1019T>G	c.(1018-1020)gTc>gGc	p.V340G	ZZEF1_ENST00000574474.1_5'UTR|snoU13_ENST00000459263.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	340	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.						calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATAGCCAGTGACATTGCTGGG	0.512																																						uc002fxe.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1018-1020)GTC>GGC		zinc finger, ZZ type with EF hand domain 1							111.0	82.0	92.0					17																	4015950		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4015950A>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1019T>G	17.37:g.4015950A>C	ENSP00000371051:p.Val340Gly					ZZEF1_uc002fxk.1_Missense_Mutation_p.V340G	p.V340G	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			5	1083	-			340			DOC.		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.1019T>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.601651	0.87055	.	.	ENSG00000074755	ENST00000381638	T	0.72505	-0.66	5.51	5.51	0.81932	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.122244	0.56097	D	0.000028	T	0.78502	0.4293	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.986	D;P	0.69142	0.962;0.868	T	0.78947	-0.2003	10	0.48119	T	0.1	-20.4463	15.6058	0.76668	1.0:0.0:0.0:0.0	.	340;340	O43149-3;O43149	.;ZZEF1_HUMAN	G	340	ENSP00000371051:V340G	ENSP00000371051:V340G	V	-	2	0	ZZEF1	3962699	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.930000	0.92872	2.097000	0.63578	0.482000	0.46254	GTC		0.512	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		31	69	0	0	0	0	31	69				
ALOX15	246	broad.mit.edu	37	17	4542786	4542786	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4542786G>A	ENST00000570836.1	-	3	372	c.276C>T	c.(274-276)gtC>gtT	p.V92V	ALOX15_ENST00000293761.3_Silent_p.V92V|ALOX15_ENST00000574640.1_Silent_p.V53V|ALOX15_ENST00000545513.1_Silent_p.V114V			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	92	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		AAGGGAACCTGACCTCGTCCC	0.647																																						uc002fyh.2		NA																	0				skin(3)|ovary(1)|lung(1)	5						c.(274-276)GTC>GTT		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						50.0	52.0	51.0					17																	4542786		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4542786G>A	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.276C>T	17.37:g.4542786G>A						ALOX15_uc010vsd.1_Silent_p.V53V|ALOX15_uc010vse.1_Silent_p.V114V	p.V92V	NM_001140	NP_001131	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	2	290	-			92			PLAT.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.276C>T	CCDS11049.1																																																																																				0.647	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			19	85	0	0	0	0	19	85				
SPAG7	9552	broad.mit.edu	37	17	4862900	4862900	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4862900C>T	ENST00000206020.3	-	7	680	c.613G>A	c.(613-615)Gag>Aag	p.E205K	SPAG7_ENST00000575142.1_3'UTR|SPAG7_ENST00000573366.1_Missense_Mutation_p.E154K	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	205						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TTCATAGCCTCTTCAATGGAG	0.617																																						uc002gae.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(613-615)GAG>AAG		sperm associated antigen 7							72.0	76.0	75.0					17																	4862900		1984	4151	6135	SO:0001583	missense	9552					nucleus	nucleic acid binding|protein binding	g.chr17:4862900C>T	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.613G>A	17.37:g.4862900C>T	ENSP00000206020:p.Glu205Lys					SPAG7_uc002gad.2_Missense_Mutation_p.E154K|SPAG7_uc002gaf.2_3'UTR	p.E205K	NM_004890	NP_004881	O75391	SPAG7_HUMAN			7	646	-			205					Q96EU5	Missense_Mutation	SNP	ENST00000206020.3	37	c.613G>A	CCDS42240.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965354	0.92855	.	.	ENSG00000091640	ENST00000206020	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	M	0.70275	2.135	0.58432	D	0.999995	D	0.56968	0.978	P	0.55508	0.777	T	0.76828	-0.2815	9	0.72032	D	0.01	-14.2962	16.4689	0.84094	0.0:1.0:0.0:0.0	.	205	O75391	SPAG7_HUMAN	K	205	.	ENSP00000206020:E205K	E	-	1	0	SPAG7	4803623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.826000	0.62715	2.753000	0.94483	0.650000	0.86243	GAG		0.617	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		79	129	0	0	0	0	79	129				
SPAG7	9552	broad.mit.edu	37	17	4862903	4862903	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4862903C>T	ENST00000206020.3	-	7	677	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	SPAG7_ENST00000575142.1_3'UTR|SPAG7_ENST00000573366.1_Missense_Mutation_p.E153K	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	204						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ATAGCCTCTTCAATGGAGCGT	0.617																																						uc002gae.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(610-612)GAA>AAA		sperm associated antigen 7							72.0	75.0	74.0					17																	4862903		1986	4149	6135	SO:0001583	missense	9552					nucleus	nucleic acid binding|protein binding	g.chr17:4862903C>T	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.610G>A	17.37:g.4862903C>T	ENSP00000206020:p.Glu204Lys					SPAG7_uc002gad.2_Missense_Mutation_p.E153K|SPAG7_uc002gaf.2_3'UTR	p.E204K	NM_004890	NP_004881	O75391	SPAG7_HUMAN			7	643	-			204					Q96EU5	Missense_Mutation	SNP	ENST00000206020.3	37	c.610G>A	CCDS42240.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984233	0.93044	.	.	ENSG00000091640	ENST00000206020	.	.	.	5.26	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.75049	0.3797	M	0.82517	2.595	0.58432	D	0.999999	D	0.69078	0.997	P	0.56751	0.805	T	0.79548	-0.1758	9	0.87932	D	0	-8.9149	11.8753	0.52544	0.0:0.9156:0.0:0.0844	.	204	O75391	SPAG7_HUMAN	K	204	.	ENSP00000206020:E204K	E	-	1	0	SPAG7	4803626	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.559000	0.73946	1.464000	0.47987	0.650000	0.86243	GAA		0.617	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		75	129	0	0	0	0	75	129				
SPAG7	9552	broad.mit.edu	37	17	4863614	4863614	+	Splice_Site	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:4863614C>A	ENST00000206020.3	-	4	310		c.e4-1		SPAG7_ENST00000575142.1_Splice_Site|SPAG7_ENST00000573366.1_Splice_Site	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7							nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CACATCATGTCTGGGATGGGA	0.567																																						uc002gae.2		NA																	1	Unknown(1)		ovary(1)	ovary(1)|central_nervous_system(1)	2						c.e4-1		sperm associated antigen 7							60.0	61.0	60.0					17																	4863614		2025	4189	6214	SO:0001630	splice_region_variant	9552					nucleus	nucleic acid binding|protein binding	g.chr17:4863614C>A	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.243-1G>T	17.37:g.4863614C>A						SPAG7_uc002gad.2_Splice_Site_p.L30_splice|SPAG7_uc002gaf.2_Splice_Site_p.L81_splice	p.L81_splice	NM_004890	NP_004881	O75391	SPAG7_HUMAN			4	276	-								Q96EU5	Splice_Site	SNP	ENST00000206020.3	37	c.243_splice	CCDS42240.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700129	0.48307	.	.	ENSG00000091640	ENST00000206020	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7823	0.78269	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPAG7	4804337	1.000000	0.71417	0.995000	0.50966	0.789000	0.44602	6.166000	0.71896	2.583000	0.87209	0.655000	0.94253	.		0.567	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890	Intron	31	46	1	0	2.52e-32	2.82e-32	31	46				
POLR2A	5430	broad.mit.edu	37	17	7417029	7417029	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:7417029C>G	ENST00000322644.6	+	29	5845	c.5446C>G	c.(5446-5448)Cca>Gca	p.P1816A		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1816	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCACAGTCTCCAACCTATAC	0.577																																						uc002ghf.3		NA																	0				pancreas(1)	1						c.(5446-5448)CCA>GCA		DNA-directed RNA polymerase II A							343.0	324.0	330.0					17																	7417029		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7417029C>G			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5446C>G	17.37:g.7417029C>G	ENSP00000314949:p.Pro1816Ala						p.P1816A	NM_000937	NP_000928	P24928	RPB1_HUMAN			29	5680	+		Prostate(122;0.173)	1816			32.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.5446C>G	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571985	0.45798	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.73363	-0.74	3.4	3.4	0.38934	.	0.000000	0.43919	U	0.000503	D	0.85057	0.5610	H	0.95850	3.73	0.80722	D	1	P	0.43392	0.805	P	0.47134	0.539	D	0.89229	0.3576	10	0.51188	T	0.08	.	14.1485	0.65367	0.0:1.0:0.0:0.0	.	1816	P24928	RPB1_HUMAN	A	1772;715;1816	ENSP00000314949:P1816A	ENSP00000314949:P1816A	P	+	1	0	SLC35G6	7357753	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.540000	0.73861	1.923000	0.55706	0.298000	0.19748	CCA		0.577	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		146	279	0	0	0	0	146	279				
CHD3	1107	broad.mit.edu	37	17	7812049	7812049	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:7812049G>T	ENST00000330494.7	+	36	5446	c.5296G>T	c.(5296-5298)Gat>Tat	p.D1766Y	SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.D1732Y|CHD3_ENST00000380358.4_Missense_Mutation_p.D1825Y	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1766	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATCCAGAATGATGCTCAATT	0.443																																						uc002gje.2		NA																	0				breast(1)	1						c.(5296-5298)GAT>TAT		chromodomain helicase DNA binding protein 3							162.0	157.0	158.0					17																	7812049		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7812049G>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5296G>T	17.37:g.7812049G>T	ENSP00000332628:p.Asp1766Tyr					CHD3_uc002gjd.2_Missense_Mutation_p.D1825Y|CHD3_uc002gjf.2_Missense_Mutation_p.D1732Y|CHD3_uc002gjh.2_Missense_Mutation_p.D343Y|CHD3_uc002gjj.2_5'Flank	p.D1766Y	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			36	5446	+		Prostate(122;0.202)	1766			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.5296G>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524712	0.64747	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235;ENST00000449744	D;D;D	0.97066	-4.23;-4.19;-4.14	4.78	4.78	0.61160	CHD, C-terminal 2 (1);	0.000000	0.46758	D	0.000273	D	0.98469	0.9490	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.99655	1.0992	10	0.87932	D	0	-21.376	17.9945	0.89178	0.0:0.0:1.0:0.0	.	343;1732;1766;1825	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	Y	1825;1732;1766;94;58	ENSP00000369716:D1825Y;ENSP00000350907:D1732Y;ENSP00000332628:D1766Y	ENSP00000332628:D1766Y	D	+	1	0	CHD3	7752774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.480000	0.83734	0.561000	0.74099	GAT		0.443	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		26	218	1	0	4.72e-08	5.04e-08	26	218				
DNAH9	1770	broad.mit.edu	37	17	11835359	11835359	+	Missense_Mutation	SNP	C	C	T	rs575817556		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:11835359C>T	ENST00000262442.4	+	64	12202	c.12134C>T	c.(12133-12135)aCg>aTg	p.T4045M	DNAH9_ENST00000608377.1_Missense_Mutation_p.T357M|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.T3969M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4045	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCGGGAGACGGAGTTTAAG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20262	0.0		0.0	False		,,,				2504	0.001					uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(12133-12135)ACG>ATG		dynein, axonemal, heavy chain 9 isoform 2							342.0	317.0	326.0					17																	11835359		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11835359C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12134C>T	17.37:g.11835359C>T	ENSP00000262442:p.Thr4045Met					DNAH9_uc010coo.2_Missense_Mutation_p.T3263M|DNAH9_uc002gnf.2_Missense_Mutation_p.T357M	p.T4045M	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	64	12202	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4045			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12134C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	7.261	0.605133	0.14002	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.08896	3.04;3.04;3.04	4.96	-3.13	0.05266	Dynein heavy chain (1);	0.681975	0.15081	N	0.281658	T	0.07503	0.0189	L	0.55017	1.72	0.09310	N	1	B	0.20052	0.041	B	0.20184	0.028	T	0.24693	-1.0153	10	0.51188	T	0.08	.	6.29	0.21054	0.1743:0.329:0.0:0.4967	.	4045	Q9NYC9	DYH9_HUMAN	M	4045;3969;2551;357	ENSP00000262442:T4045M;ENSP00000414874:T3969M;ENSP00000379323:T357M	ENSP00000262442:T4045M	T	+	2	0	DNAH9	11776084	0.000000	0.05858	0.012000	0.15200	0.403000	0.30841	-0.261000	0.08694	-0.663000	0.05331	-0.951000	0.02657	ACG		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		10	475	0	0	0	0	10	475				
FLOT2	2319	broad.mit.edu	37	17	27209040	27209040	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:27209040C>T	ENST00000394908.4	-	8	810	c.706G>A	c.(706-708)Gag>Aag	p.E236K	FLOT2_ENST00000394906.2_Missense_Mutation_p.E291K|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.E236K	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	236					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AACTGGGCCTCAGCTGTCTGT	0.572																																						uc002hdc.2		NA																	0					0						c.(706-708)GAG>AAG		flotillin 2							39.0	40.0	40.0					17																	27209040		2063	4202	6265	SO:0001583	missense	2319				cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		g.chr17:27209040C>T	M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.706G>A	17.37:g.27209040C>T	ENSP00000378368:p.Glu236Lys						p.E236K	NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)		8	829	-	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		236						Missense_Mutation	SNP	ENST00000394908.4	37	c.706G>A	CCDS11245.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.307950	0.81247	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.33438	1.41;1.41	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.44871	0.1314	M	0.62016	1.91	0.80722	D	1	P	0.47841	0.901	P	0.49953	0.627	T	0.28933	-1.0028	10	0.46703	T	0.11	-33.9965	18.4614	0.90739	0.0:1.0:0.0:0.0	.	236	Q14254	FLOT2_HUMAN	K	291;236	ENSP00000378366:E291K;ENSP00000378368:E236K	ENSP00000378366:E291K	E	-	1	0	FLOT2	24233166	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	7.783000	0.85696	2.622000	0.88805	0.591000	0.81541	GAG		0.572	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255935.3	NM_004475		18	54	0	0	0	0	18	54				
RFFL	117584	broad.mit.edu	37	17	33348692	33348692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:33348692G>A	ENST00000315249.7	-	3	511	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	RFFL_ENST00000415395.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000584655.1_Nonsense_Mutation_p.Q97*|RFFL_ENST00000413582.2_Nonsense_Mutation_p.Q97*|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000394597.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000378516.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000447669.2_Nonsense_Mutation_p.Q97*|RFFL_ENST00000268850.7_Nonsense_Mutation_p.Q97*					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TCCTCTCGCTGAAAGGCTGTA	0.512																																						uc002hin.1		NA																	0					0						c.(289-291)CAG>TAG		rififylin							87.0	84.0	85.0					17																	33348692		2203	4300	6503	SO:0001587	stop_gained	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33348692G>A	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.289C>T	17.37:g.33348692G>A	ENSP00000326170:p.Gln97*					RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Nonsense_Mutation_p.Q97*|RFFL_uc010cti.1_Nonsense_Mutation_p.Q103*|RFFL_uc002hip.1_Nonsense_Mutation_p.Q97*|RFFL_uc002hio.1_Nonsense_Mutation_p.Q97*	p.Q97*	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	3	462	-		Ovarian(249;0.17)	97						Nonsense_Mutation	SNP	ENST00000315249.7	37	c.289C>T	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	G	36	5.716509	0.96830	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395;ENST00000414419	.	.	.	5.65	5.65	0.86999	.	0.374184	0.30060	N	0.010501	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-10.0437	14.4815	0.67587	0.0:0.1464:0.8536:0.0	.	.	.	.	X	97	.	ENSP00000268850:Q97X	Q	-	1	0	RFFL	30372805	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.695000	0.61767	2.941000	0.99782	0.655000	0.94253	CAG		0.512	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		16	128	0	0	0	0	16	128				
NLE1	54475	broad.mit.edu	37	17	33469078	33469078	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:33469078G>A	ENST00000442241.4	-	2	121	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.L28L|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	28					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GAACCCAGCAGCTGCCCGCCC	0.687																																						uc002hiy.1		NA																	0				breast(3)|ovary(1)	4						c.(82-84)CTG>TTG		Notchless gene homolog isoform a							43.0	33.0	37.0					17																	33469078		2203	4300	6503	SO:0001819	synonymous_variant	54475					nucleolus		g.chr17:33469078G>A		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.82C>T	17.37:g.33469078G>A						NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR	p.L28L	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN			2	110	-		Ovarian(249;0.17)	28					O60868|Q59GJ8|Q9BU54	Silent	SNP	ENST00000442241.4	37	c.82C>T	CCDS11291.1																																																																																				0.687	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096		7	26	0	0	0	0	7	26				
GPR179	440435	broad.mit.edu	37	17	36486529	36486529	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:36486529C>A	ENST00000342292.4	-	11	2943	c.2923G>T	c.(2923-2925)Gcc>Tcc	p.A975S	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	975					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ggtgccagggcaggggctggg	0.612																																						uc002hpz.2		NA																	0				ovary(3)	3						c.(2923-2925)GCC>TCC		GPR158-like 1 precursor							30.0	33.0	32.0					17																	36486529		1991	4165	6156	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486529C>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2923G>T	17.37:g.36486529C>A	ENSP00000345060:p.Ala975Ser						p.A975S	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	2944	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	975			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.2923G>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	7.294	0.611612	0.14066	.	.	ENSG00000188888	ENST00000342292	T	0.52295	0.67	3.91	1.85	0.25348	.	1.036670	0.07642	N	0.930390	T	0.30070	0.0753	L	0.27053	0.805	0.23795	N	0.996826	B	0.34103	0.437	B	0.32090	0.14	T	0.18935	-1.0321	10	0.15499	T	0.54	-7.0E-4	5.7742	0.18269	0.0:0.744:0.0:0.256	.	975	Q6PRD1	GP179_HUMAN	S	975	ENSP00000345060:A975S	ENSP00000345060:A975S	A	-	1	0	GPR179	33740055	0.000000	0.05858	0.883000	0.34634	0.207000	0.24258	-0.483000	0.06536	0.580000	0.29522	0.462000	0.41574	GCC		0.612	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			22	43	1	0	3.1e-05	3.26e-05	22	43				
ERBB2	2064	broad.mit.edu	37	17	37880180	37880180	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:37880180G>C	ENST00000269571.5	+	19	2383	c.2224G>C	c.(2224-2226)Gat>Cat	p.D742H	ERBB2_ENST00000584450.1_Missense_Mutation_p.D742H|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000406381.2_Missense_Mutation_p.D712H|ERBB2_ENST00000540147.1_Missense_Mutation_p.D712H|ERBB2_ENST00000445658.2_Missense_Mutation_p.D466H|ERBB2_ENST00000584601.1_Missense_Mutation_p.D712H|ERBB2_ENST00000541774.1_Missense_Mutation_p.D727H			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	742	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CTGGATCCCTGATGGGGAGAA	0.502		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(2224-2226)GAT>CAT		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						90.0	81.0	84.0					17																	37880180		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37880180G>C	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2224G>C	17.37:g.37880180G>C	ENSP00000269571:p.Asp742His	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.D712H|ERBB2_uc010cwa.2_Missense_Mutation_p.D727H|ERBB2_uc002hsp.2_Missense_Mutation_p.D545H|ERBB2_uc010cwb.2_Missense_Mutation_p.D742H|ERBB2_uc010wek.1_Missense_Mutation_p.D466H	p.D742H	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	19	2462	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	742			Cytoplasmic (Potential).|Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2224G>C	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226427	0.58668	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.31	5.31	0.75309	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.74298	0.3698	M	0.64676	1.99	0.80722	D	1	D;D;D	0.63046	0.974;0.992;0.99	P;P;P	0.57620	0.785;0.824;0.82	T	0.77419	-0.2595	9	0.87932	D	0	.	18.6028	0.91255	0.0:0.0:1.0:0.0	.	466;727;742	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	H	712;727;466;742;712	ENSP00000385185:D712H;ENSP00000446466:D727H;ENSP00000404047:D466H;ENSP00000269571:D742H;ENSP00000443562:D712H	ENSP00000269571:D742H	D	+	1	0	ERBB2	35133706	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.869000	0.99810	2.481000	0.83766	0.561000	0.74099	GAT		0.502	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			4	67	0	0	0	0	4	67				
EIF1	10209	broad.mit.edu	37	17	39847033	39847033	+	Splice_Site	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:39847033G>A	ENST00000469257.1	+	4	443		c.e4-1		EIF1_ENST00000591776.1_Splice_Site|JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_Splice_Site			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGTCTTTTCAGATTGGACTGG	0.443																																					Pancreas(176;1692 2837 16734 17588)	uc002hxj.2		NA																	0					0						c.e4-1		eukaryotic translation initiation factor 1							147.0	131.0	137.0					17																	39847033		2203	4300	6503	SO:0001630	splice_region_variant	10209				regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity	g.chr17:39847033G>A	AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.298-1G>A	17.37:g.39847033G>A						JUP_uc010wfs.1_Intron|EIF1_uc002hxk.2_Splice_Site	p.I100_splice	NM_005801	NP_005792	P41567	EIF1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		4	462	+		Breast(137;0.000307)						Q9UNQ9	Splice_Site	SNP	ENST00000469257.1	37	c.298_splice	CCDS11403.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894411	0.72639	.	.	ENSG00000173812	ENST00000469257	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7286	0.85429	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF1	37100559	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.531000	0.90610	2.621000	0.88768	0.591000	0.81541	.		0.443	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257390.1	NM_005801	Intron	37	120	0	0	0	0	37	120				
HAP1	9001	broad.mit.edu	37	17	39881154	39881154	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:39881154C>T	ENST00000310778.5	-	12	1824	c.1815G>A	c.(1813-1815)atG>atA	p.M605I	HAP1_ENST00000347901.4_Missense_Mutation_p.M553I|HAP1_ENST00000393939.2_Missense_Mutation_p.M528I|HAP1_ENST00000341193.5_Missense_Mutation_p.M536I|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	605					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCACCACGTTCATCCGCGTTG	0.607																																						uc002hxm.1		NA																	0				ovary(2)	2						c.(1813-1815)ATG>ATA		huntingtin-associated protein 1 isoform 2							271.0	238.0	250.0					17																	39881154		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881154C>T	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1815G>A	17.37:g.39881154C>T	ENSP00000309392:p.Met605Ile					JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.M553I|HAP1_uc002hxo.1_Missense_Mutation_p.M536I|HAP1_uc002hxp.1_Missense_Mutation_p.M528I	p.M605I	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		12	1827	-		Breast(137;0.000162)	605					A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1815G>A		.	.	.	.	.	.	.	.	.	.	C	5.979	0.364558	0.11296	.	.	ENSG00000173805	ENST00000458656;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T	0.31510	1.49;3.31;3.6;3.43;3.31	4.14	2.07	0.26955	.	0.985567	0.08261	N	0.973058	T	0.21468	0.0517	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.33103	0.246;0.358;0.397;0.118	B;B;B;B	0.28139	0.037;0.037;0.086;0.023	T	0.23190	-1.0195	10	0.66056	D	0.02	-0.6066	12.0645	0.53580	0.0:0.6658:0.3342:0.0	.	528;536;553;605	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	I	60;528;605;553;536	ENSP00000404640:M60I;ENSP00000377513:M528I;ENSP00000309392:M605I;ENSP00000334002:M553I;ENSP00000343170:M536I	ENSP00000309392:M605I	M	-	3	0	HAP1	37134680	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.137000	0.15995	0.479000	0.27511	0.511000	0.50034	ATG		0.607	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		184	319	0	0	0	0	184	319				
HAP1	9001	broad.mit.edu	37	17	39881246	39881246	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:39881246C>G	ENST00000310778.5	-	12	1732	c.1723G>C	c.(1723-1725)Gag>Cag	p.E575Q	HAP1_ENST00000347901.4_Missense_Mutation_p.E523Q|HAP1_ENST00000393939.2_Missense_Mutation_p.E498Q|HAP1_ENST00000341193.5_Missense_Mutation_p.E506Q|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	575	Glu-rich.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCCTTCCTCAGCCGGCACC	0.627																																						uc002hxm.1		NA																	0				ovary(2)	2						c.(1723-1725)GAG>CAG		huntingtin-associated protein 1 isoform 2							241.0	232.0	235.0					17																	39881246		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39881246C>G	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1723G>C	17.37:g.39881246C>G	ENSP00000309392:p.Glu575Gln					JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.E523Q|HAP1_uc002hxo.1_Missense_Mutation_p.E506Q|HAP1_uc002hxp.1_Missense_Mutation_p.E498Q	p.E575Q	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		12	1735	-		Breast(137;0.000162)	575			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1723G>C		.	.	.	.	.	.	.	.	.	.	C	17.74	3.463513	0.63513	.	.	ENSG00000173805	ENST00000458656;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T	0.44881	0.91;2.52;2.92;2.61;2.55	4.14	4.14	0.48551	.	0.400598	0.18866	N	0.128996	T	0.44393	0.1291	L	0.27053	0.805	0.09310	N	1	D;D;D;P	0.55385	0.971;0.971;0.971;0.952	P;P;P;P	0.55455	0.776;0.776;0.776;0.601	T	0.30327	-0.9982	10	0.46703	T	0.11	-4.5938	14.3109	0.66415	0.0:1.0:0.0:0.0	.	498;506;523;575	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	Q	30;498;575;523;506	ENSP00000404640:E30Q;ENSP00000377513:E498Q;ENSP00000309392:E575Q;ENSP00000334002:E523Q;ENSP00000343170:E506Q	ENSP00000309392:E575Q	E	-	1	0	HAP1	37134772	0.001000	0.12720	0.025000	0.17156	0.023000	0.10783	0.417000	0.21214	2.299000	0.77371	0.511000	0.50034	GAG		0.627	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		187	410	0	0	0	0	187	410				
ETV4	2118	broad.mit.edu	37	17	41622708	41622708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:41622708C>A	ENST00000319349.5	-	3	386	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	ETV4_ENST00000591713.1_Nonsense_Mutation_p.E30*|ETV4_ENST00000545954.1_5'UTR|ETV4_ENST00000545089.1_Nonsense_Mutation_p.E30*|ETV4_ENST00000538265.1_5'UTR|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000393664.2_Nonsense_Mutation_p.E30*	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	30					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		ATCAGCGCTTCGCGCAAGCTC	0.647			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	uc002idw.2		NA		Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	EWSR1|TMPRSS2|DDX5|KLK2|CANT1		Ewing sarcoma|Prostate carcinoma	EWSR1/ETV4(6)	0				bone(4)|soft_tissue(2)|ovary(1)	7						c.(88-90)GAA>TAA		ets variant gene 4 (E1A enhancer binding							13.0	15.0	15.0					17																	41622708		2188	4276	6464	SO:0001587	stop_gained	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41622708C>A	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.88G>T	17.37:g.41622708C>A	ENSP00000321835:p.Glu30*					ETV4_uc010wih.1_Nonsense_Mutation_p.E30*|ETV4_uc010czh.2_Nonsense_Mutation_p.E30*|ETV4_uc010wii.1_5'UTR|ETV4_uc002idx.2_Nonsense_Mutation_p.E30*|ETV4_uc010wij.1_5'UTR|ETV4_uc002idy.1_5'UTR	p.E30*	NM_001986	NP_001977	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	3	216	-		Breast(137;0.00908)	30					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Nonsense_Mutation	SNP	ENST00000319349.5	37	c.88G>T	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	C	38	7.049824	0.98029	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000545089	.	.	.	5.15	4.15	0.48705	.	3.408990	0.00654	N	0.000578	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	10.6936	0.45886	0.0:0.6989:0.3011:0.0	.	.	.	.	X	30	.	ENSP00000321835:E30X	E	-	1	0	ETV4	38978234	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.841000	0.39240	2.387000	0.81309	0.555000	0.69702	GAA		0.647	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		7	19	1	0	0.00198382	0.00204915	7	19				
CCDC43	124808	broad.mit.edu	37	17	42757999	42757999	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:42757999C>G	ENST00000315286.8	-	4	449	c.441G>C	c.(439-441)gaG>gaC	p.E147D	C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000457422.2_Intron|CCDC43_ENST00000588210.1_Missense_Mutation_p.E150D	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	147										lung(2)	2		Prostate(33;0.0322)				AATCATCCTTCTCATCTGCTT	0.408																																						uc002ihc.2		NA																	0					0						c.(439-441)GAG>GAC		coiled-coil domain containing 43 isoform 1							177.0	174.0	175.0					17																	42757999		1950	4162	6112	SO:0001583	missense	124808							g.chr17:42757999C>G	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.441G>C	17.37:g.42757999C>G	ENSP00000323782:p.Glu147Asp					CCDC43_uc010czw.1_Intron	p.E147D	NM_144609	NP_653210	Q96MW1	CCD43_HUMAN			4	485	-		Prostate(33;0.0322)	147					C9JVK9	Missense_Mutation	SNP	ENST00000315286.8	37	c.441G>C	CCDS45704.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551233	0.27739	.	.	ENSG00000180329	ENST00000315286	.	.	.	6.06	5.1	0.69264	.	0.100656	0.64402	D	0.000003	T	0.28034	0.0691	N	0.16233	0.39	0.43444	D	0.995627	B	0.09022	0.002	B	0.09377	0.004	T	0.14035	-1.0487	9	0.06365	T	0.9	-14.0522	5.0705	0.14604	0.1516:0.6349:0.0:0.2135	.	147	Q96MW1	CCD43_HUMAN	D	147	.	ENSP00000323782:E147D	E	-	3	2	CCDC43	40113525	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.717000	0.25851	1.583000	0.49898	-0.142000	0.14014	GAG		0.408	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1	NM_144609		26	165	0	0	0	0	26	165				
INTS2	57508	broad.mit.edu	37	17	59968949	59968949	+	Silent	SNP	C	C	T	rs578079823		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:59968949C>T	ENST00000444766.3	-	14	1899	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	INTS2_ENST00000251334.6_Silent_p.S600S	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	608					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)		p.S608S(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GATTAGATTTCGACGCAGGAG	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		14210	0.0		0.001	False		,,,				2504	0.0					uc002izn.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(1822-1824)TCG>TCA		integrator complex subunit 2							133.0	133.0	133.0					17																	59968949		1873	4098	5971	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59968949C>T	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1824G>A	17.37:g.59968949C>T						INTS2_uc002izm.2_Silent_p.S600S	p.S608S	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			14	1900	-			608					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.1824G>A	CCDS45750.1																																																																																				0.373	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		66	114	0	0	0	0	66	114				
MED13	9969	broad.mit.edu	37	17	60060429	60060429	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:60060429G>C	ENST00000397786.2	-	16	3011	c.2935C>G	c.(2935-2937)Caa>Gaa	p.Q979E		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	979					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTATGAGTTTGAGGTGTATAA	0.418																																						uc002izo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2935-2937)CAA>GAA		mediator complex subunit 13							54.0	53.0	53.0					17																	60060429		1890	4117	6007	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60060429G>C	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2935C>G	17.37:g.60060429G>C	ENSP00000380888:p.Gln979Glu						p.Q979E	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			16	3012	-			979					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2935C>G	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965190	0.74131	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74737	-0.87	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.85128	0.5626	M	0.67953	2.075	0.80722	D	1	D	0.54964	0.969	D	0.64877	0.93	D	0.83646	0.0153	10	0.46703	T	0.11	-32.8477	20.2181	0.98305	0.0:0.0:1.0:0.0	.	979	Q9UHV7	MED13_HUMAN	E	979;978	ENSP00000380888:Q979E	ENSP00000262436:Q978E	Q	-	1	0	MED13	57415211	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.785000	0.95823	0.655000	0.94253	CAA		0.418	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		9	62	0	0	0	0	9	62				
MRC2	9902	broad.mit.edu	37	17	60758228	60758228	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:60758228G>A	ENST00000303375.5	+	17	2943	c.2541G>A	c.(2539-2541)gcG>gcA	p.A847A	MRC2_ENST00000446119.2_5'Flank	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	847	C-type lectin 5. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCACGTGGGCGCAGGCGCAGC	0.667																																						uc002jad.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2539-2541)GCG>GCA		mannose receptor, C type 2							26.0	25.0	25.0					17																	60758228		2201	4299	6500	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60758228G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.2541G>A	17.37:g.60758228G>A						MRC2_uc002jae.2_5'UTR|MRC2_uc002jaf.2_5'Flank	p.A847A	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			17	2943	+			847			Extracellular (Potential).|C-type lectin 5.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.2541G>A	CCDS11634.1																																																																																				0.667	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			3	46	0	0	0	0	3	46				
MARCH10	162333	broad.mit.edu	37	17	60814396	60814396	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:60814396G>C	ENST00000311269.5	-	6	1107	c.833C>G	c.(832-834)tCc>tGc	p.S278C	RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.S278C|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000544856.2_Missense_Mutation_p.S277C|MARCH10_ENST00000583600.1_Missense_Mutation_p.S316C|RP11-156L14.1_ENST00000582564.1_RNA	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	278					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TGACAAAATGGAATAAAAGTC	0.488																																						uc010ddr.2		NA																	0					0						c.(832-834)TCC>TGC		ring finger protein 190							185.0	187.0	186.0					17																	60814396		2203	4300	6503	SO:0001583	missense	162333						ligase activity|zinc ion binding	g.chr17:60814396G>C	AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.833C>G	17.37:g.60814396G>C	ENSP00000311496:p.Ser278Cys					MARCH10_uc002jag.3_Missense_Mutation_p.S278C|MARCH10_uc010dds.2_Missense_Mutation_p.S316C|MARCH10_uc002jah.2_Missense_Mutation_p.S277C|uc002jaj.1_RNA|uc002jak.2_RNA	p.S278C	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN			6	1071	-			278					D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	ENST00000311269.5	37	c.833C>G	CCDS11635.1	.	.	.	.	.	.	.	.	.	.	G	5.977	0.364252	0.11296	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.38077	1.16;1.16;1.16	4.98	4.98	0.66077	.	0.114792	0.39759	N	0.001266	T	0.59649	0.2209	M	0.74881	2.28	0.36854	D	0.888049	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.69304	-0.5180	10	0.72032	D	0.01	-6.2324	13.7684	0.63010	0.0:0.0:1.0:0.0	.	277;277;278	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	C	278;278;277	ENSP00000416177:S278C;ENSP00000311496:S278C;ENSP00000443746:S277C	ENSP00000311496:S278C	S	-	2	0	MARCH10	58168128	1.000000	0.71417	0.968000	0.41197	0.019000	0.09904	4.908000	0.63307	2.314000	0.78098	0.561000	0.74099	TCC		0.488	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598		101	376	0	0	0	0	101	376				
RECQL5	9400	broad.mit.edu	37	17	73658604	73658604	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr17:73658604C>T	ENST00000317905.5	-	4	885	c.726G>A	c.(724-726)ctG>ctA	p.L242L	RECQL5_ENST00000584999.1_Silent_p.L242L|RECQL5_ENST00000423245.2_Silent_p.L215L|RECQL5_ENST00000340830.5_Silent_p.L242L|RECQL5_ENST00000420326.2_Silent_p.L242L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	242	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGAAGTCCTTCAGGTTCCCAT	0.512								Other identified genes with known or suspected DNA repair function																														uc010dgl.2		NA																	0				kidney(3)	3						c.(724-726)CTG>CTA	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							232.0	240.0	237.0					17																	73658604		2203	4300	6503	SO:0001819	synonymous_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73658604C>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.726G>A	17.37:g.73658604C>T						RECQL5_uc010dgk.2_Silent_p.L215L|RECQL5_uc002jpb.1_Silent_p.L242L|RECQL5_uc002joz.3_Silent_p.L242L|RECQL5_uc002jpa.3_Silent_p.L242L	p.L242L	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		4	882	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		242			Helicase C-terminal.		Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.726G>A	CCDS42380.1																																																																																				0.512	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		223	410	0	0	0	0	223	410				
CIDEA	1149	broad.mit.edu	37	18	12264384	12264384	+	Nonsense_Mutation	SNP	G	G	T	rs139948292		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:12264384G>T	ENST00000320477.9	+	3	327	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	88	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GGACACAGAAGAGTTCTTTCA	0.512																																						uc002kqt.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(262-264)GAG>TAG		cell death-inducing DFFA-like effector a isoform							157.0	129.0	139.0					18																	12264384		2203	4300	6503	SO:0001587	stop_gained	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12264384G>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.262G>T	18.37:g.12264384G>T	ENSP00000320209:p.Glu88*					CIDEA_uc002kqu.3_Nonsense_Mutation_p.E122*|CIDEA_uc010dlc.2_RNA	p.E88*	NM_001279	NP_001270	O60543	CIDEA_HUMAN			3	327	+			88			CIDE-N.		B0YIY7|Q6UPR7	Nonsense_Mutation	SNP	ENST00000320477.9	37	c.262G>T	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	G	37	6.478574	0.97598	.	.	ENSG00000176194	ENST00000320477	.	.	.	4.93	4.93	0.64822	.	0.207703	0.40640	N	0.001060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-34.4116	18.112	0.89539	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000320209:E88X	E	+	1	0	CIDEA	12254384	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.688000	0.91260	2.422000	0.82143	0.484000	0.47621	GAG		0.512	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		33	64	1	0	1.62e-16	1.77e-16	33	64				
CTAGE1	64693	broad.mit.edu	37	18	19996658	19996658	+	5'Flank	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:19996658C>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.E373K			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CATTTTTCCTCTACTATTAAT	0.368																																						uc002ktv.1		NA																	0				ovary(1)	1						c.(1117-1119)GAG>AAG		cutaneous T-cell lymphoma-associated antigen 1							47.0	56.0	53.0					18																	19996658		2159	4281	6440	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996658C>T	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996658C>T	Exception_encountered						p.E373K	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	1221	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		373			Potential.		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1117G>A		.	.	.	.	.	.	.	.	.	.	C	10.48	1.361533	0.24684	.	.	ENSG00000212710	ENST00000391403	T	0.76709	-1.04	0.779	0.779	0.18550	.	.	.	.	.	D	0.84705	0.5531	M	0.87180	2.865	0.22851	N	0.998652	D	0.55172	0.97	P	0.59424	0.857	T	0.72481	-0.4280	8	.	.	.	.	4.8937	0.13740	0.0:1.0:0.0:0.0	.	373	Q96RT6	CTGE2_HUMAN	K	373	ENSP00000375220:E373K	.	E	-	1	0	CTAGE1	18250656	1.000000	0.71417	0.206000	0.23566	0.041000	0.13682	2.480000	0.45206	0.697000	0.31718	0.479000	0.44913	GAG		0.368	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		17	109	0	0	0	0	17	109				
C18orf21	83608	broad.mit.edu	37	18	33554876	33554876	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:33554876G>C	ENST00000592875.1	+	3	764	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	C18orf21_ENST00000333234.5_5'UTR	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	40										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GAGCACTTTTGAAGAAACGTG	0.353																																						uc002kzc.2		NA																	0					0						c.(118-120)GAA>CAA		chromosome 18 open reading frame 21							82.0	87.0	86.0					18																	33554876		2203	4300	6503	SO:0001583	missense	83608							g.chr18:33554876G>C	BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.118G>C	18.37:g.33554876G>C	ENSP00000465517:p.Glu40Gln					C18orf21_uc002kzd.2_5'UTR	p.E40Q	NM_031446	NP_113634	Q32NC0	CR021_HUMAN			3	222	+			40					Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	ENST00000592875.1	37	c.118G>C	CCDS11916.2	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038428	0.35989	.	.	ENSG00000141428	ENST00000333234	.	.	.	4.99	3.13	0.36017	.	0.362015	0.25881	N	0.027696	T	0.41743	0.1172	L	0.33710	1.025	0.80722	D	1	B	0.19331	0.035	B	0.17722	0.019	T	0.23511	-1.0186	9	0.30078	T	0.28	-0.2991	7.8948	0.29699	0.0931:0.1734:0.7335:0.0	.	40	Q32NC0	CR021_HUMAN	Q	40	.	ENSP00000329492:E40Q	E	+	1	0	C18orf21	31808874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.634000	0.46528	1.192000	0.43071	0.650000	0.86243	GAA		0.353	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	NM_031446		25	118	0	0	0	0	25	118				
SERPINB3	6317	broad.mit.edu	37	18	61328411	61328411	+	Missense_Mutation	SNP	C	C	G	rs148776258	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr18:61328411C>G	ENST00000283752.5	-	2	183	c.40G>C	c.(40-42)Gac>Cac	p.D14H	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.D14H	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	14					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGGAACAGGTCGAACATGAAC	0.428																																						uc002ljg.2		NA																	0				ovary(2)|lung(1)	3						c.(40-42)GAC>CAC		SubName: Full=Squamous cell carcinoma antigen 2;		C	HIS/ASP	15,4391	16.8+/-37.8	0,15,2188	320.0	281.0	295.0		40	3.1	0.0	18	dbSNP_134	295	1,8599	1.2+/-3.3	0,1,4299	no	missense	SERPINB3	NM_006919.2	81	0,16,6487	GG,GC,CC		0.0116,0.3404,0.123	probably-damaging	14/391	61328411	16,12990	2203	4300	6503	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61328411C>G	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.40G>C	18.37:g.61328411C>G	ENSP00000283752:p.Asp14His					SERPINB3_uc002lji.2_Missense_Mutation_p.D14H|SERPINB3_uc010dqa.2_Missense_Mutation_p.D14H|SERPINB3_uc010dqb.2_Missense_Mutation_p.D14H|SERPINB3_uc010dqc.2_Missense_Mutation_p.D14H	p.D14H			P48594	SPB4_HUMAN			1	66	-			14					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.40G>C	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695656	0.48202	0.003404	1.16E-4	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.85556	-2.0;-2.0	3.13	3.13	0.36017	Serpin domain (3);	0.166732	0.28219	N	0.016156	D	0.91975	0.7458	M	0.83012	2.62	0.28674	N	0.905499	D;D;D;D;D	0.89917	0.999;0.994;0.999;0.987;1.0	D;P;D;D;D	0.76071	0.987;0.879;0.982;0.924;0.986	D	0.86786	0.1982	10	0.87932	D	0	.	14.4558	0.67416	0.0:1.0:0.0:0.0	.	14;14;14;14;14	B3W5Y6;A8K847;P29508-2;P29508;Q5K684	.;.;.;SPB3_HUMAN;.	H	14	ENSP00000283752:D14H;ENSP00000329498:D14H	ENSP00000283752:D14H	D	-	1	0	SERPINB3	59479391	0.950000	0.32346	0.018000	0.16275	0.002000	0.02628	2.491000	0.45303	2.063000	0.61619	0.455000	0.32223	GAC		0.428	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		87	226	0	0	0	0	87	226				
GNA15	2769	broad.mit.edu	37	19	3148635	3148635	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:3148635C>T	ENST00000262958.3	+	2	450	c.192C>T	c.(190-192)atC>atT	p.I64I	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	64					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGATGCGGATCATCCACGGCG	0.657																																						uc002lxf.2		NA																	0				skin(2)	2						c.(190-192)ATC>ATT		guanine nucleotide binding protein (G protein),							33.0	25.0	28.0					19																	3148635		2199	4296	6495	SO:0001819	synonymous_variant	2769				activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3148635C>T		CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.192C>T	19.37:g.3148635C>T						GNA15_uc010xhf.1_Silent_p.I64I	p.I64I	NM_002068	NP_002059	P30679	GNA15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)	2	450	+		Hepatocellular(1079;0.137)	64					E9KL40|E9KL47|O75247|Q53XK2	Silent	SNP	ENST00000262958.3	37	c.192C>T	CCDS12104.1																																																																																				0.657	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452320.2	NM_002068		4	8	0	0	0	0	4	8				
PTPRS	5802	broad.mit.edu	37	19	5274263	5274264	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:5274263_5274264GC>AA	ENST00000587303.1	-	2	282_283	c.183_184GC>TT	c.(181-186)aaGCca>aaTTca	p.61_62KP>NS	PTPRS_ENST00000348075.2_Missense_Mutation_p.61_62KP>NS|PTPRS_ENST00000262963.6_Missense_Mutation_p.61_62KP>NS|PTPRS_ENST00000588012.1_Missense_Mutation_p.61_62KP>NS|PTPRS_ENST00000592099.1_Missense_Mutation_p.61_62KP>NS|PTPRS_ENST00000372412.4_Missense_Mutation_p.61_62KP>NS|PTPRS_ENST00000353284.2_Missense_Mutation_p.61_62KP>NS|PTPRS_ENST00000590509.1_Missense_Mutation_p.61_62KP>NS|PTPRS_ENST00000357368.4_Missense_Mutation_p.61_62KP>NS|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	61	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTCACTCGTGGCTTGGGGTCAC	0.604																																						uc002mbv.2		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(181-186)AAGCCA>AATTCA		protein tyrosine phosphatase, receptor type,																																				SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5274263_5274264GC>AA	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.183_184delinsAA	19.37:g.5274263_5274264delinsAA	ENSP00000467537:p.K61_P62delinsNS					PTPRS_uc002mbu.1_Missense_Mutation_p.61_62KP>NS|PTPRS_uc010xin.1_Missense_Mutation_p.61_62KP>NS|PTPRS_uc002mbw.2_Missense_Mutation_p.61_62KP>NS|PTPRS_uc002mbx.2_Missense_Mutation_p.61_62KP>NS|PTPRS_uc002mby.2_Missense_Mutation_p.61_62KP>NS|PTPRS_uc002mbz.1_Missense_Mutation_p.61_62KP>NS	p.61_62KP>NS	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	3	417_418	-			61_62			Ig-like C2-type 1.|Extracellular (Potential).		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	DNP	ENST00000587303.1	37	c.183_184GC>TT	CCDS45930.1																																																																																				0.604	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			20	50	0	0	0	0	20	50				
RANBP3	8498	broad.mit.edu	37	19	5914740	5914740	+	IGR	SNP	C	C	A	rs199545548		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:5914740C>A	ENST00000340578.6	-	0	3233				AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_Silent_p.R170R|CAPS_ENST00000222125.5_Silent_p.R84R|CAPS_ENST00000452990.2_Silent_p.R84R	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GGAGTTCCTTCGGGCGCTGCG	0.667																																						uc002mdt.2		NA																	0					0						c.(250-252)CGG>AGG		calcyphosine isoform a							67.0	77.0	73.0					19																	5914740		2203	4299	6502	SO:0001628	intergenic_variant	828				intracellular signal transduction	cytoplasm	calcium ion binding	g.chr19:5914740C>A	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5914740C>A						CAPS_uc002mdu.2_Silent_p.R84R	p.R84R	NM_004058	NP_004049	Q13938	CAYP1_HUMAN			3	400	+			84			EF-hand 2.		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	ENST00000340578.6	37	c.250C>A	CCDS42478.1																																																																																				0.667	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		30	109	1	0	2.61e-14	2.85e-14	30	109				
MYO1F	4542	broad.mit.edu	37	19	8601428	8601428	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:8601428C>G	ENST00000338257.8	-	18	2120	c.1853G>C	c.(1852-1854)aGa>aCa	p.R618T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	618	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GAAGCCGGCTCTGCGCACCCT	0.652																																						uc002mkg.2		NA																	0				ovary(2)|skin(1)	3						c.(1852-1854)AGA>ACA		myosin IF							51.0	62.0	59.0					19																	8601428		2006	4169	6175	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8601428C>G	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1853G>C	19.37:g.8601428C>G	ENSP00000344871:p.Arg618Thr						p.R618T	NM_012335	NP_036467	O00160	MYO1F_HUMAN			18	1967	-			618			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.1853G>C	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155753	0.78114	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.88741	-2.42	4.83	3.79	0.43588	Myosin head, motor domain (2);	0.000000	0.64402	D	0.000001	D	0.95752	0.8618	H	0.95917	3.74	0.50467	D	0.999873	D	0.71674	0.998	D	0.74023	0.982	D	0.95999	0.8992	10	0.72032	D	0.01	.	11.9148	0.52759	0.0:0.9149:0.0:0.0851	.	618	O00160	MYO1F_HUMAN	T	663;618	ENSP00000344871:R618T	ENSP00000304899:R663T	R	-	2	0	MYO1F	8507428	0.866000	0.29940	0.213000	0.23690	0.954000	0.61252	7.732000	0.84908	1.040000	0.40099	0.454000	0.30748	AGA		0.652	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			39	81	0	0	0	0	39	81				
ZNF559	84527	broad.mit.edu	37	19	9452472	9452472	+	Silent	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:9452472A>G	ENST00000393883.2	+	6	993	c.345A>G	c.(343-345)agA>agG	p.R115R	ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000538743.1_Silent_p.R35R|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Silent_p.R115R|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000585352.1_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000587557.1_Silent_p.R179R|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	115					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)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CTTACTTTAGAAAGAAAACCT	0.373																																						uc002mlg.2		NA																	0				ovary(1)	1						c.(343-345)AGA>AGG		zinc finger protein 559							55.0	60.0	58.0					19																	9452472		2202	4300	6502	SO:0001819	synonymous_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452472A>G	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.345A>G	19.37:g.9452472A>G						ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Silent_p.R107R|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.R179R|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	p.R115R	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN			7	992	+			115					K7EMG6	Silent	SNP	ENST00000393883.2	37	c.345A>G	CCDS12211.1																																																																																				0.373	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		10	82	0	0	0	0	10	82				
ICAM1	3383	broad.mit.edu	37	19	10395132	10395132	+	Nonsense_Mutation	SNP	G	G	T	rs143008699		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:10395132G>T	ENST00000264832.3	+	5	1304	c.979G>T	c.(979-981)Gag>Tag	p.E327*	ICAM4_ENST00000393717.2_5'Flank|ICAM1_ENST00000423829.2_Nonsense_Mutation_p.E105*|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	327	Ig-like C2-type 4.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.E327K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	AGAAGGGACCGAGGTGACAGT	0.642																																						uc002mnq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(979-981)GAG>TAG		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)						58.0	67.0	64.0					19																	10395132		2203	4291	6494	SO:0001587	stop_gained	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395132G>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.979G>T	19.37:g.10395132G>T	ENSP00000264832:p.Glu327*					ICAM1_uc010xle.1_Nonsense_Mutation_p.E105*|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	p.E327*	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		5	1298	+			327			Ig-like C2-type 4.|Extracellular (Potential).		B2R6M3|Q5NKV7|Q96B50	Nonsense_Mutation	SNP	ENST00000264832.3	37	c.979G>T	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669697	0.47677	.	.	ENSG00000090339	ENST00000264832;ENST00000423829	.	.	.	4.1	-4.1	0.03940	.	5.868750	0.00678	N	0.000660	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	0.0963	6.7994	0.23742	0.2121:0.5435:0.2445:0.0	.	.	.	.	X	327;105	.	ENSP00000264832:E327X	E	+	1	0	ICAM1	10256132	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	-0.458000	0.06737	-0.230000	0.09840	0.407000	0.27541	GAG		0.642	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			44	91	1	0	1.42e-22	1.57e-22	44	91				
LDLR	3949	broad.mit.edu	37	19	11231182	11231182	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:11231182G>A	ENST00000558518.1	+	14	2311	c.2124G>A	c.(2122-2124)atG>atA	p.M708I	LDLR_ENST00000535915.1_Missense_Mutation_p.M667I|LDLR_ENST00000455727.2_Missense_Mutation_p.M540I|LDLR_ENST00000557933.1_Missense_Mutation_p.M708I|LDLR_ENST00000558013.1_Missense_Mutation_p.M708I|LDLR_ENST00000545707.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	708	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CCAGGGACATGAGGAGCTGCC	0.627																																					GBM(18;201 575 7820 21545)	uc002mqk.3		NA																	1	Unknown(1)		lung(1)	ovary(2)|skin(2)	4						c.(2122-2124)ATG>ATA		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						44.0	42.0	43.0					19																	11231182		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11231182G>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2124G>A	19.37:g.11231182G>A	ENSP00000454071:p.Met708Ile					LDLR_uc010xlk.1_Missense_Mutation_p.M708I|LDLR_uc010xll.1_Missense_Mutation_p.M667I|LDLR_uc010xlm.1_Missense_Mutation_p.M561I|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Missense_Mutation_p.M540I	p.M708I	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	14	2292	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	708			EGF-like 3.|Extracellular (Potential).		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.2124G>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170571	0.57584	.	.	ENSG00000130164	ENST00000252444;ENST00000535915;ENST00000455727	D;D	0.96265	-3.96;-3.96	5.3	5.3	0.74995	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.078821	0.50627	D	0.000107	D	0.97309	0.9120	M	0.91561	3.22	0.58432	D	0.999998	B;B;B;B;B	0.25850	0.136;0.052;0.044;0.052;0.052	B;B;B;B;B	0.36464	0.216;0.225;0.112;0.18;0.18	D	0.96608	0.9450	10	0.36615	T	0.2	.	17.7333	0.88384	0.0:0.0:1.0:0.0	.	540;587;667;720;708	B4DR00;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;LDLR_HUMAN	I	708;667;540	ENSP00000440520:M667I;ENSP00000397829:M540I	ENSP00000252444:M708I	M	+	3	0	LDLR	11092182	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	6.055000	0.71103	2.499000	0.84300	0.655000	0.94253	ATG		0.627	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			12	67	0	0	0	0	12	67				
USE1	55850	broad.mit.edu	37	19	17330509	17330509	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:17330509G>A	ENST00000263897.5	+	8	714	c.667G>A	c.(667-669)Gag>Aag	p.E223K	USE1_ENST00000379776.4_3'UTR|USE1_ENST00000596136.1_3'UTR|USE1_ENST00000445667.2_Missense_Mutation_p.E223K	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	223					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						AGAGCGTCTGGAGCAGCACAC	0.522																																						uc002nfo.2		NA																	0					0						c.(667-669)GAG>AAG		unconventional SNARE in the ER 1 homolog							98.0	106.0	103.0					19																	17330509		2202	4299	6501	SO:0001583	missense	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17330509G>A	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"""Q-SNARE"", ""SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"""	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.667G>A	19.37:g.17330509G>A	ENSP00000263897:p.Glu223Lys					USE1_uc010eal.1_3'UTR	p.E223K	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN			8	727	+			223			Cytoplasmic (Potential).|Potential.		Q8NCK1|Q9BRT4	Missense_Mutation	SNP	ENST00000263897.5	37	c.667G>A	CCDS46011.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207739	0.79240	.	.	ENSG00000053501	ENST00000263897;ENST00000445667	T;T	0.52295	0.67;0.67	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.65969	-0.6039	10	0.08179	T	0.78	-33.5135	16.6941	0.85330	0.0:0.0:1.0:0.0	.	223	Q9NZ43	USE1_HUMAN	K	223	ENSP00000263897:E223K;ENSP00000390287:E223K	ENSP00000263897:E223K	E	+	1	0	USE1	17191509	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	9.729000	0.98795	2.193000	0.70182	0.491000	0.48974	GAG		0.522	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467		32	74	0	0	0	0	32	74				
PLVAP	83483	broad.mit.edu	37	19	17476503	17476503	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:17476503G>C	ENST00000252590.4	-	3	832	c.771C>G	c.(769-771)ctC>ctG	p.L257L	CTD-2278I10.1_ENST00000597592.1_RNA	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	257					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGATGGTAGAGGTTGTAAC	0.607																																						uc002ngk.1		NA																	0					0						c.(769-771)CTC>CTG		plasmalemma vesicle associated protein							82.0	71.0	75.0					19																	17476503		2203	4300	6503	SO:0001819	synonymous_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476503G>C	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.771C>G	19.37:g.17476503G>C							p.L257L	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	821	-			257			Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	c.771C>G	CCDS32952.1																																																																																				0.607	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		5	130	0	0	0	0	5	130				
CILP2	148113	broad.mit.edu	37	19	19656361	19656361	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:19656361C>A	ENST00000291495.5	+	8	3092	c.3007C>A	c.(3007-3009)Cgg>Agg	p.R1003R	CILP2_ENST00000586018.1_Silent_p.R1009R	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1003						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTTCGACCAGCGGCAGGTGGA	0.682																																						uc002nmv.3		NA																	0				ovary(1)	1						c.(3007-3009)CGG>AGG		cartilage intermediate layer protein 2							15.0	18.0	17.0					19																	19656361		2197	4297	6494	SO:0001819	synonymous_variant	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19656361C>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.3007C>A	19.37:g.19656361C>A						CILP2_uc002nmw.3_Silent_p.R1009R	p.R1003R	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	3092	+			1003					Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	ENST00000291495.5	37	c.3007C>A	CCDS12405.1																																																																																				0.682	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		16	15	1	0	5.35e-07	5.69e-07	16	15				
ZNF486	90649	broad.mit.edu	37	19	20308540	20308540	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:20308540G>C	ENST00000335117.8	+	4	1078	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TAGTAAACATGAGAAGATTCA	0.398																																						uc002nou.2		NA																	0				ovary(1)	1						c.(1021-1023)GAG>CAG		zinc finger protein 486							49.0	54.0	53.0					19																	20308540		2175	4285	6460	SO:0001583	missense	90649				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20308540G>C	BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.1021G>C	19.37:g.20308540G>C	ENSP00000335042:p.Glu341Gln						p.E341Q	NM_052852	NP_443084	Q96H40	ZN486_HUMAN			4	1078	+			341			C2H2-type 6.		Q0VG00	Missense_Mutation	SNP	ENST00000335117.8	37	c.1021G>C	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	-	8.928	0.962767	0.18583	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.17691	2.26	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07143	0.0181	N	0.02247	-0.625	0.20873	N	0.999837	P	0.45768	0.866	P	0.48873	0.593	T	0.24548	-1.0157	9	0.11485	T	0.65	.	5.2681	0.15611	0.0:0.6192:0.3808:0.0	.	341	Q96H40	ZN486_HUMAN	Q	380;341	ENSP00000335042:E341Q	ENSP00000335042:E341Q	E	+	1	0	ZNF486	20169540	0.000000	0.05858	0.297000	0.24988	0.296000	0.27459	-4.698000	0.00197	0.192000	0.20272	0.195000	0.17529	GAG		0.398	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447843.2	NM_052852		23	53	0	0	0	0	23	53				
NUDT19	390916	broad.mit.edu	37	19	33183421	33183421	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:33183421C>G	ENST00000397061.3	+	1	555	c.555C>G	c.(553-555)ctC>ctG	p.L185L	CTD-2538C1.2_ENST00000592431.1_lincRNA	NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	185	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GCGCCCACCTCGACTGCACAC	0.721																																						uc010edf.2		NA																	0					0						c.(553-555)CTC>CTG		nudix (nucleoside diphosphate linked moiety							5.0	6.0	6.0					19																	33183421		1840	4017	5857	SO:0001819	synonymous_variant	390916					mitochondrion|peroxisome	hydrolase activity|metal ion binding	g.chr19:33183421C>G		CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.555C>G	19.37:g.33183421C>G							p.L185L	NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN			1	555	+	Esophageal squamous(110;0.137)		185			Nudix hydrolase.			Silent	SNP	ENST00000397061.3	37	c.555C>G	CCDS42543.1																																																																																				0.721	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000450338.3	XM_372723		5	8	0	0	0	0	5	8				
FFAR2	2867	broad.mit.edu	37	19	35941408	35941408	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:35941408C>G	ENST00000599180.2	+	2	872	c.792C>G	c.(790-792)ctC>ctG	p.L264L	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.L264L			O15552	FFAR2_HUMAN	free fatty acid receptor 2	264					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCAGTTCACTCAACGCCAGTC	0.582																																					GBM(40;139 809 9833 23358 48736)	uc002nzg.2		NA																	0				central_nervous_system(1)	1						c.(790-792)CTC>CTG		free fatty acid receptor 2							93.0	90.0	91.0					19																	35941408		2203	4300	6503	SO:0001819	synonymous_variant	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35941408C>G	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.792C>G	19.37:g.35941408C>G						FFAR2_uc010eea.2_Silent_p.L264L	p.L264L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	872	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		264			Helical; Name=7; (Potential).		B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	c.792C>G	CCDS12461.1																																																																																				0.582	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		53	196	0	0	0	0	53	196				
ARHGAP33	115703	broad.mit.edu	37	19	36278704	36278704	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:36278704C>T	ENST00000007510.4	+	21	3381	c.3237C>T	c.(3235-3237)ctC>ctT	p.L1079L	ARHGAP33_ENST00000378944.5_Silent_p.L915L|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000314737.5_Silent_p.L918L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1079					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGCACCACTCGACAGGGGAG	0.672																																						uc002obs.1		NA																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(2752-2754)CTC>CTT		sorting nexin 26							31.0	34.0	33.0					19																	36278704		2201	4299	6500	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278704C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3237C>T	19.37:g.36278704C>T						ARHGAP33_uc002obt.1_Silent_p.L915L|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Silent_p.L667L	p.L918L	NM_052948	NP_443180	O14559	RHG33_HUMAN			21	2839	+			1079					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.2754C>T																																																																																					0.672	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		39	100	0	0	0	0	39	100				
FCGBP	8857	broad.mit.edu	37	19	40357470	40357470	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:40357470G>C	ENST00000221347.6	-	34	15850	c.15843C>G	c.(15841-15843)gtC>gtG	p.V5281V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5281	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				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)			GGCAGATCTGGACTTCGGCAA	0.572																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(15841-15843)GTC>GTG		Fc fragment of IgG binding protein precursor							112.0	104.0	107.0					19																	40357470		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40357470G>C	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.15843C>G	19.37:g.40357470G>C							p.V5281V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		34	15851	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5281			VWFD 13.		O95784	Silent	SNP	ENST00000221347.6	37	c.15843C>G	CCDS12546.1																																																																																				0.572	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		10	76	0	0	0	0	10	76				
ZNF780A	284323	broad.mit.edu	37	19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:40581109T>C	ENST00000595687.2	-	6	1449	c.1240A>G	c.(1240-1242)Ata>Gta	p.I414V	ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000450241.2_Missense_Mutation_p.I380V	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	414					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)	p.I415V(1)|p.I380V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383																																						uc002omy.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1240-1242)ATA>GTA		zinc finger protein 780A isoform b							178.0	182.0	180.0					19																	40581109		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581109T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1240A>G	19.37:g.40581109T>C	ENSP00000472189:p.Ile414Val					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.I414V|ZNF780A_uc010xvh.1_Missense_Mutation_p.I415V	p.I414V	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1465	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		414					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1240A>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415046	0.25552	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.16897	2.31;2.31	1.93	0.83	0.18854	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31641	-0.9936	9	0.59425	D	0.04	.	8.0199	0.30404	0.0:0.8348:0.0:0.1652	.	415;414	E9PB48;O75290	.;Z780A_HUMAN	V	414;415;414	ENSP00000400997:I415V;ENSP00000341507:I414V	ENSP00000341507:I414V	I	-	1	0	ZNF780A	45272949	0.003000	0.15002	0.007000	0.13788	0.407000	0.30961	1.030000	0.30153	-0.222000	0.09958	-1.945000	0.00491	ATA		0.383	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		6	418	0	0	0	0	6	418				
IRGQ	126298	broad.mit.edu	37	19	44097009	44097009	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:44097009C>G	ENST00000602269.1	-	2	1226	c.1041G>C	c.(1039-1041)gaG>gaC	p.E347D	L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000601520.1_5'UTR|IRGQ_ENST00000422989.1_Missense_Mutation_p.E347D			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	347	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCTTGGGATTCTCCATCTTGC	0.587																																						uc002oww.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1039-1041)GAG>GAC		immunity-related GTPase family, Q							215.0	210.0	212.0					19																	44097009		2203	4300	6503	SO:0001583	missense	126298						protein binding	g.chr19:44097009C>G	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1041G>C	19.37:g.44097009C>G	ENSP00000472250:p.Glu347Asp					IRGQ_uc010eiv.2_Missense_Mutation_p.E347D	p.E347D	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN			2	1159	-		Prostate(69;0.0199)	347					B2RNP3	Missense_Mutation	SNP	ENST00000602269.1	37	c.1041G>C	CCDS33040.1	.	.	.	.	.	.	.	.	.	.	C	8.489	0.861654	0.17178	.	.	ENSG00000167378	ENST00000422989	T	0.50277	0.75	4.19	0.782	0.18567	.	0.941536	0.08688	N	0.908456	T	0.27313	0.0670	L	0.29908	0.895	0.09310	N	1	B	0.31817	0.341	B	0.27500	0.08	T	0.18147	-1.0346	10	0.20519	T	0.43	.	1.5316	0.02536	0.1703:0.4743:0.1656:0.1898	.	347	Q8WZA9	IRGQ_HUMAN	D	347	ENSP00000387535:E347D	ENSP00000387535:E347D	E	-	3	2	IRGQ	48788849	0.159000	0.22864	0.045000	0.18777	0.073000	0.16967	0.089000	0.15002	0.288000	0.22398	0.655000	0.94253	GAG		0.587	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		8	359	0	0	0	0	8	359				
ZNF331	55422	broad.mit.edu	37	19	54080952	54080952	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:54080952G>A	ENST00000253144.9	+	7	2471	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	ZNF331_ENST00000411977.2_Missense_Mutation_p.E380K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E380K|ZNF331_ENST00000449416.1_Missense_Mutation_p.E380K|ZNF331_ENST00000512387.1_Missense_Mutation_p.E380K|ZNF331_ENST00000511593.2_Missense_Mutation_p.E380K|ZNF331_ENST00000511154.1_Missense_Mutation_p.E380K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CCACACAGGCGAAACCCCGTA	0.498			T	?	follicular thyroid adenoma																																	uc002qbx.1		NA		Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6						c.(1138-1140)GAA>AAA		zinc finger protein 331							80.0	76.0	77.0					19																	54080952		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080952G>A	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.1138G>A	19.37:g.54080952G>A	ENSP00000253144:p.Glu380Lys					ZNF331_uc002qby.1_Missense_Mutation_p.E380K|ZNF331_uc002qbz.1_Missense_Mutation_p.E380K|ZNF331_uc002qca.1_Missense_Mutation_p.E380K|ZNF331_uc010eqr.1_Missense_Mutation_p.E380K|ZNF331_uc002qcb.1_Missense_Mutation_p.E380K|ZNF331_uc002qcc.1_Missense_Mutation_p.E380K|ZNF331_uc002qcd.1_Missense_Mutation_p.E380K	p.E380K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	2572	+			380					Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.1138G>A	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197846	0.58126	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	4.08	4.08	0.47627	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35436	N	0.003207	T	0.44726	0.1307	L	0.52905	1.665	0.38876	D	0.956795	D	0.89917	1.0	D	0.75020	0.985	T	0.48875	-0.8996	10	0.66056	D	0.02	.	14.1319	0.65260	0.0:0.0:1.0:0.0	.	380	Q9NQX6	ZN331_HUMAN	K	380	ENSP00000253144:E380K;ENSP00000427439:E380K;ENSP00000393817:E380K;ENSP00000393336:E380K;ENSP00000421014:E380K;ENSP00000423156:E380K;ENSP00000421728:E380K	ENSP00000253144:E380K	E	+	1	0	ZNF331	58772764	1.000000	0.71417	0.030000	0.17652	0.096000	0.18686	4.145000	0.58065	2.262000	0.75019	0.655000	0.94253	GAA		0.498	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		31	56	0	0	0	0	31	56				
LILRB5	10990	broad.mit.edu	37	19	54758747	54758747	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:54758747G>A	ENST00000316219.5	-	6	1213	c.1106C>T	c.(1105-1107)tCa>tTa	p.S369L	LILRB5_ENST00000450632.1_Missense_Mutation_p.S360L|LILRB5_ENST00000345866.6_Missense_Mutation_p.S269L|LILRB5_ENST00000449561.2_Missense_Mutation_p.S369L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	369	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGTACTTTGACTTTAGACA	0.527																																						uc002qex.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1105-1107)TCA>TTA		leukocyte immunoglobulin-like receptor,							86.0	82.0	83.0					19																	54758747		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758747G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1106C>T	19.37:g.54758747G>A	ENSP00000320390:p.Ser369Leu					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.S360L|LILRB5_uc002qey.2_Missense_Mutation_p.S369L|LILRB5_uc002qez.2_Missense_Mutation_p.S269L|LILRB5_uc002qfa.1_Missense_Mutation_p.S259L|LILRB5_uc010yes.1_RNA	p.S369L	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1217	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		369			Ig-like C2-type 4.|Extracellular (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1106C>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	9.400	1.077803	0.20227	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.03358	3.96;3.96;3.96;3.96	2.82	1.72	0.24424	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.412110	0.02430	N	0.083489	T	0.17238	0.0414	M	0.83774	2.66	0.09310	N	1	D;P;P;P;D	0.60575	0.988;0.828;0.956;0.925;0.965	P;P;P;P;P	0.60541	0.876;0.737;0.868;0.632;0.819	T	0.08186	-1.0734	10	0.35671	T	0.21	.	7.7908	0.29119	0.0:0.2581:0.7418:0.0	.	360;260;269;369;369	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	L	369;360;369;269	ENSP00000320390:S369L;ENSP00000414225:S360L;ENSP00000406478:S369L;ENSP00000263430:S269L	ENSP00000320390:S369L	S	-	2	0	LILRB5	59450559	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.891000	0.04135	0.702000	0.31825	0.573000	0.79308	TCA		0.527	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			7	84	0	0	0	0	7	84				
ZNF628	89887	broad.mit.edu	37	19	55994342	55994342	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:55994342C>A	ENST00000598519.1	+	3	2335	c.1782C>A	c.(1780-1782)ttC>ttA	p.F594L	NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000591590.1_5'Flank|NAT14_ENST00000587400.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.F590L			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	594					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AGCGGCCCTTCCGCTGCCCGC	0.711																																						uc002qld.2		NA																	0					0						c.(1768-1770)TTC>TTA		zinc finger protein 628							25.0	27.0	26.0					19																	55994342		2201	4290	6491	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994342C>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1782C>A	19.37:g.55994342C>A	ENSP00000469591:p.Phe594Leu					NAT14_uc002qle.1_5'Flank	p.F590L	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2335	+	Breast(117;0.155)		590			C2H2-type 15.		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.1770C>A	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	16.22	3.060775	0.55432	.	.	ENSG00000197483	ENST00000391718	T	0.65732	-0.17	3.91	2.87	0.33458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.487627	0.16761	U	0.200597	T	0.69513	0.3119	L	0.59912	1.85	0.36951	D	0.892867	D	0.61697	0.99	P	0.59595	0.86	T	0.74352	-0.3693	10	0.87932	D	0	-12.139	9.308	0.37887	0.0:0.8913:0.0:0.1087	.	590	Q5EBL2	ZN628_HUMAN	L	590	ENSP00000375598:F590L	ENSP00000375598:F590L	F	+	3	2	ZNF628	60686154	0.655000	0.27376	1.000000	0.80357	0.918000	0.54935	1.167000	0.31847	1.003000	0.39130	0.561000	0.74099	TTC		0.711	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		4	29	1	0	0.00909568	0.00931342	4	29				
ZNF835	90485	broad.mit.edu	37	19	57175754	57175754	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:57175754G>A	ENST00000537055.2	-	2	1044	c.813C>T	c.(811-813)atC>atT	p.I271I		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	271					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCTCCGTGTGGATGCGCTGGT	0.682																																						uc010ygo.1		NA																	0				pancreas(3)|skin(1)	4						c.(877-879)ATC>ATT		zinc finger protein 835							23.0	25.0	24.0					19																	57175754		2203	4299	6502	SO:0001819	synonymous_variant	90485							g.chr19:57175754G>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.813C>T	19.37:g.57175754G>A						ZNF835_uc010ygn.1_Silent_p.I271I	p.I293I	NM_001005850	NP_001005850					2	879	-								B7Z5Y0|G3V1S0	Silent	SNP	ENST00000537055.2	37	c.879C>T	CCDS56105.1																																																																																				0.682	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		6	4	0	0	0	0	6	4				
ZIK1	284307	broad.mit.edu	37	19	58101557	58101557	+	Silent	SNP	T	T	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr19:58101557T>G	ENST00000597850.1	+	4	593	c.378T>G	c.(376-378)gtT>gtG	p.V126V	ZIK1_ENST00000599456.1_Silent_p.V71V|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.V113V	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	126	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)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CATACTTGGTTGGAGAATGTA	0.463																																						uc002qpg.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(376-378)GTT>GTG		zinc finger protein interacting with K protein							115.0	101.0	106.0					19																	58101557		2203	4300	6503	SO:0001819	synonymous_variant	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101557T>G	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.378T>G	19.37:g.58101557T>G						ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Silent_p.V71V|ZIK1_uc002qpi.2_Silent_p.V113V|ZIK1_uc002qpj.2_Silent_p.V23V	p.V126V	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	475	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	126			KRAB.		O43339|Q3SY51|Q3SY53	Silent	SNP	ENST00000597850.1	37	c.378T>G	CCDS33135.1																																																																																				0.463	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		41	84	0	0	0	0	41	84				
KCNF1	3754	broad.mit.edu	37	2	11053214	11053214	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:11053214C>T	ENST00000295082.1	+	1	1152	c.662C>T	c.(661-663)aCg>aTg	p.T221M		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	221					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GAGCACCCGACGCTGGAGAAC	0.637																																						uc002rax.2		NA																	0				ovary(1)	1						c.(661-663)ACG>ATG		potassium voltage-gated channel, subfamily F,							60.0	61.0	60.0					2																	11053214		2203	4300	6503	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053214C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.662C>T	2.37:g.11053214C>T	ENSP00000295082:p.Thr221Met						p.T221M	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1152	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		221					O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.662C>T	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403684	0.62288	.	.	ENSG00000162975	ENST00000295082	D	0.97529	-4.42	5.21	5.21	0.72293	.	0.050285	0.85682	D	0.000000	D	0.95010	0.8385	L	0.48642	1.525	0.52099	D	0.999948	P	0.49783	0.928	B	0.39027	0.288	D	0.95126	0.8251	10	0.49607	T	0.09	.	19.1427	0.93451	0.0:1.0:0.0:0.0	.	221	Q9H3M0	KCNF1_HUMAN	M	221	ENSP00000295082:T221M	ENSP00000295082:T221M	T	+	2	0	KCNF1	10970665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.954000	0.56708	2.581000	0.87130	0.655000	0.94253	ACG		0.637	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		16	36	0	0	0	0	16	36				
CENPO	79172	broad.mit.edu	37	2	25039552	25039552	+	Missense_Mutation	SNP	G	G	C	rs377071398		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:25039552G>C	ENST00000380834.2	+	6	1057	c.632G>C	c.(631-633)aGa>aCa	p.R211T	CENPO_ENST00000395845.2_Intron|CENPO_ENST00000473706.1_Missense_Mutation_p.R205T|CENPO_ENST00000260662.1_Missense_Mutation_p.R211T			Q9BU64	CENPO_HUMAN	centromere protein O	211					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCTTGCAGAGAAACCCACTG	0.493																																						uc002rfo.1		NA																	0				ovary(1)	1						c.(631-633)AGA>ACA		centromere protein O							357.0	360.0	359.0					2																	25039552		2203	4300	6503	SO:0001583	missense	79172				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr2:25039552G>C	AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.632G>C	2.37:g.25039552G>C	ENSP00000370214:p.Arg211Thr					CENPO_uc002rfp.1_Missense_Mutation_p.R205T|CENPO_uc002rfq.1_Missense_Mutation_p.R211T	p.R211T	NM_024322	NP_077298	Q9BU64	CENPO_HUMAN			6	821	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		211					B2RDC0|D6W536|Q53T55|Q96JV3	Missense_Mutation	SNP	ENST00000380834.2	37	c.632G>C	CCDS1714.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397484	0.83120	.	.	ENSG00000138092	ENST00000380834;ENST00000473706;ENST00000260662	T;T;T	0.47528	0.84;0.84;0.84	5.63	5.63	0.86233	.	0.063710	0.64402	D	0.000009	T	0.66906	0.2837	M	0.64997	1.995	0.40809	D	0.983404	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.963	T	0.63563	-0.6609	10	0.35671	T	0.21	-3.4987	19.2753	0.94029	0.0:0.0:1.0:0.0	.	205;211	Q9BU64-2;Q9BU64	.;CENPO_HUMAN	T	211;205;211	ENSP00000370214:R211T;ENSP00000417787:R205T;ENSP00000260662:R211T	ENSP00000260662:R211T	R	+	2	0	CENPO	24893056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.227000	0.51262	2.665000	0.90641	0.655000	0.94253	AGA		0.493	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246856.2	NM_024322		265	571	0	0	0	0	265	571				
GPR113	165082	broad.mit.edu	37	2	26534512	26534512	+	Missense_Mutation	SNP	C	C	T	rs148160413		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:26534512C>T	ENST00000311519.1	-	11	2083	c.2084G>A	c.(2083-2085)cGg>cAg	p.R695Q	GPR113_ENST00000421160.2_Missense_Mutation_p.R626Q|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Missense_Mutation_p.R298Q|GPR113_ENST00000333478.6_Missense_Mutation_p.R496Q	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	695					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGAAGGCCCGGTCACCTGC	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19355	0.0		0.0	False		,,,				2504	0.0					uc002rhe.3		NA																	0				ovary(4)	4						c.(2083-2085)CGG>CAG		G-protein coupled receptor 113 isoform 1		C	GLN/ARG,GLN/ARG,GLN/ARG	10,4396	16.8+/-37.8	0,10,2193	51.0	51.0	51.0		2084,1877,1487	2.2	0.0	2	dbSNP_134	51	0,8600		0,0,4300	yes	missense,missense,missense	GPR113	NM_001145168.1,NM_001145169.1,NM_153835.3	43,43,43	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	benign,benign,benign	695/1080,626/998,496/874	26534512	10,12996	2203	4300	6503	SO:0001583	missense	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26534512C>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2084G>A	2.37:g.26534512C>T	ENSP00000307831:p.Arg695Gln					GPR113_uc010yky.1_Missense_Mutation_p.R626Q|GPR113_uc002rhb.1_Missense_Mutation_p.R298Q|GPR113_uc010eyk.1_Missense_Mutation_p.R496Q|GPR113_uc002rhc.1_Missense_Mutation_p.R298Q|GPR113_uc002rhd.1_RNA	p.R695Q	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN			11	2084	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		695			Extracellular (Potential).		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	ENST00000311519.1	37	c.2084G>A	CCDS46239.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.541117	0.00142	0.00227	0.0	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.26957	1.71;1.7;1.77;1.7	5.84	2.18	0.27775	.	.	.	.	.	T	0.04452	0.0122	N	0.00119	-2.075	0.09310	N	0.999999	B;B;B;B	0.12013	0.003;0.005;0.003;0.004	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.37911	-0.9685	9	0.02654	T	1	-4.9332	9.2356	0.37464	0.0:0.2237:0.0:0.7763	.	626;496;695;298	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	Q	298;496;626;695	ENSP00000445729:R298Q;ENSP00000327396:R496Q;ENSP00000388537:R626Q;ENSP00000307831:R695Q	ENSP00000307831:R695Q	R	-	2	0	GPR113	26388016	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.252000	0.18278	0.139000	0.18822	-2.038000	0.00419	CGG		0.577	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		13	27	0	0	0	0	13	27				
DRC1	92749	broad.mit.edu	37	2	26679336	26679336	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:26679336C>G	ENST00000288710.2	+	17	2248	c.2174C>G	c.(2173-2175)tCt>tGt	p.S725C		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	725					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CAGATCAACTCTGAACTGCAA	0.557																																						uc002rhg.2		NA																	0					0						c.(2173-2175)TCT>TGT		hypothetical protein LOC92749							117.0	108.0	111.0					2																	26679336		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26679336C>G	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.2174C>G	2.37:g.26679336C>G	ENSP00000288710:p.Ser725Cys						p.S725C	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			17	2248	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		725					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.2174C>G	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996522	0.35226	.	.	ENSG00000157856	ENST00000288710	T	0.15017	2.46	4.84	2.57	0.30868	.	1.408720	0.04499	N	0.380894	T	0.30792	0.0776	L	0.57536	1.79	0.20196	N	0.999923	D	0.64830	0.994	P	0.55785	0.784	T	0.09707	-1.0662	10	0.62326	D	0.03	-0.0477	5.6625	0.17676	0.0:0.7139:0.0:0.2861	.	725	Q96MC2	CC164_HUMAN	C	725	ENSP00000288710:S725C	ENSP00000288710:S725C	S	+	2	0	CCDC164	26532840	0.020000	0.18652	0.324000	0.25361	0.476000	0.33039	0.414000	0.21164	1.138000	0.42230	0.563000	0.77884	TCT		0.557	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		10	68	0	0	0	0	10	68				
AGBL5	60509	broad.mit.edu	37	2	27278716	27278716	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:27278716G>A	ENST00000360131.4	+	7	1234	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	AGBL5_ENST00000323064.8_Missense_Mutation_p.D359N|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	359					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCCTCCTGATGCTCCTGT	0.527																																						uc002rie.2		NA																	0				ovary(1)|breast(1)	2						c.(1075-1077)GAT>AAT		ATP/GTP binding protein-like 5 isoform 1							92.0	87.0	89.0					2																	27278716		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27278716G>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1075G>A	2.37:g.27278716G>A	ENSP00000353249:p.Asp359Asn					AGBL5_uc002ric.2_Missense_Mutation_p.D359N|AGBL5_uc002rid.2_Missense_Mutation_p.D359N|AGBL5_uc002rif.2_RNA	p.D359N	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN			7	1292	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		359					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.1075G>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	9.405	1.079036	0.20227	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.32023	1.47;1.47	5.77	2.85	0.33270	.	1.013100	0.07861	N	0.966354	T	0.21347	0.0514	N	0.22421	0.69	0.09310	N	1	B;B;B	0.29590	0.25;0.118;0.21	B;B;B	0.30943	0.122;0.047;0.047	T	0.22208	-1.0223	10	0.26408	T	0.33	-14.1741	8.2226	0.31549	0.0681:0.1151:0.6983:0.1185	.	359;359;359	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	N	359	ENSP00000323681:D359N;ENSP00000353249:D359N	ENSP00000323681:D359N	D	+	1	0	AGBL5	27132220	0.183000	0.23186	0.045000	0.18777	0.305000	0.27757	2.003000	0.40844	1.439000	0.47511	0.491000	0.48974	GAT		0.527	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		25	118	0	0	0	0	25	118				
FOSL2	2355	broad.mit.edu	37	2	28634820	28634820	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:28634820G>C	ENST00000264716.4	+	4	1349	c.486G>C	c.(484-486)gaG>gaC	p.E162D	FOSL2_ENST00000545753.1_Missense_Mutation_p.E123D|FOSL2_ENST00000379619.1_Missense_Mutation_p.E154D	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	162	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TGGAGGAGGAGAAGTCAGGCC	0.557																																						uc002rma.2		NA																	0				ovary(2)|breast(1)	3						c.(484-486)GAG>GAC		FOS-like antigen 2							43.0	47.0	46.0					2																	28634820		2203	4300	6503	SO:0001583	missense	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28634820G>C		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.486G>C	2.37:g.28634820G>C	ENSP00000264716:p.Glu162Asp					FOSL2_uc010ymi.1_Missense_Mutation_p.E123D	p.E162D	NM_005253	NP_005244	P15408	FOSL2_HUMAN			4	1295	+	Acute lymphoblastic leukemia(172;0.155)		162			Leucine-zipper.		B2RD58|B3KP27|B4DYV4|Q6FG46	Missense_Mutation	SNP	ENST00000264716.4	37	c.486G>C	CCDS1766.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946944	0.34377	.	.	ENSG00000075426	ENST00000379619;ENST00000264716;ENST00000436647;ENST00000545753	T;T;T;T	0.77750	-1.12;-0.01;-0.01;-0.01	4.31	4.31	0.51392	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.163920	0.56097	D	0.000023	T	0.71426	0.3338	L	0.48260	1.515	0.58432	D	0.999998	B	0.06786	0.001	B	0.09377	0.004	T	0.70425	-0.4875	10	0.62326	D	0.03	-17.7853	13.6012	0.62020	0.08:0.0:0.92:0.0	.	162	P15408	FOSL2_HUMAN	D	154;162;123;123	ENSP00000368939:E154D;ENSP00000264716:E162D;ENSP00000396497:E123D;ENSP00000439303:E123D	ENSP00000264716:E162D	E	+	3	2	FOSL2	28488324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.598000	0.36740	2.675000	0.91044	0.650000	0.86243	GAG		0.557	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		4	91	0	0	0	0	4	91				
NRXN1	9378	broad.mit.edu	37	2	50850564	50850564	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:50850564G>T	ENST00000406316.2	-	6	2498	c.1022C>A	c.(1021-1023)tCt>tAt	p.S341Y	NRXN1_ENST00000402717.3_Missense_Mutation_p.S341Y|NRXN1_ENST00000404971.1_Missense_Mutation_p.S374Y|NRXN1_ENST00000405472.3_Missense_Mutation_p.S341Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.S341Y|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.S341Y	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	341	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AATGACCAGAGAGACAGCTCC	0.438																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(1120-1122)TCT>TAT		neurexin 1 isoform alpha2 precursor							144.0	135.0	138.0					2																	50850564		1888	4127	6015	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50850564G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1022C>A	2.37:g.50850564G>T	ENSP00000384311:p.Ser341Tyr					NRXN1_uc002rxb.3_Missense_Mutation_p.S21Y|NRXN1_uc002rxe.3_Missense_Mutation_p.S341Y|NRXN1_uc002rxc.1_RNA	p.S374Y	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2598	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1121C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217320	0.79352	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.78978	0.4369	N	0.22421	0.69	0.58432	D	0.999997	D;D;D	0.89917	0.959;0.965;1.0	B;P;D	0.72625	0.407;0.598;0.978	T	0.70513	-0.4851	10	0.02654	T	1	.	19.9037	0.96999	0.0:0.0:1.0:0.0	.	374;341;341	Q9ULB1-3;F8WB18;A7E294	.;.;.	Y	374;341;341;341;375;341;341	ENSP00000385142:S374Y;ENSP00000384311:S341Y;ENSP00000434015:S341Y;ENSP00000385017:S341Y;ENSP00000385434:S341Y;ENSP00000385681:S341Y	ENSP00000385017:S341Y	S	-	2	0	NRXN1	50704068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.708000	0.92522	0.557000	0.71058	TCT		0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			30	146	1	0	5.83e-16	6.38e-16	30	146				
ELMOD3	84173	broad.mit.edu	37	2	85598302	85598302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:85598302G>T	ENST00000409890.2	+	9	1121	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.E152*|RN7SL113P_ENST00000497900.2_RNA|ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.E152*|RNU7-162P_ENST00000516669.1_RNA|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000315658.7_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.E152*|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.E152*			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	152					phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CCTTCGGGAAGAAAGGGACTT	0.587																																						uc002spf.3		NA																	0				ovary(2)	2						c.(454-456)GAA>TAA		ELMO/CED-12 domain containing 3 isoform b							77.0	73.0	74.0					2																	85598302		2203	4300	6503	SO:0001587	stop_gained	84173				phagocytosis	cytoskeleton		g.chr2:85598302G>T	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.454G>T	2.37:g.85598302G>T	ENSP00000386304:p.Glu152*					ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Nonsense_Mutation_p.E152*|ELMOD3_uc002sph.3_Nonsense_Mutation_p.E152*|ELMOD3_uc010ysn.1_Nonsense_Mutation_p.E152*|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	p.E152*	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN			10	1119	+			152					B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Nonsense_Mutation	SNP	ENST00000409890.2	37	c.454G>T	CCDS46352.1	.	.	.	.	.	.	.	.	.	.	G	43	9.909036	0.99293	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-20.2915	18.0345	0.89296	0.0:0.0:1.0:0.0	.	.	.	.	X	152	.	ENSP00000318264:E152X	E	+	1	0	ELMOD3	85451813	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.584000	0.90798	2.865000	0.98341	0.655000	0.94253	GAA		0.587	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	NM_032213		11	128	1	0	0.000978159	0.00101483	11	128				
CFAP221	200373	broad.mit.edu	37	2	120369265	120369265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:120369265C>T	ENST00000413369.3	+	13	1345	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Nonsense_Mutation_p.Q134*	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					TGAGGAATTTCAGCGACTTAA	0.333																																						uc002tmb.2		NA																	0					0						c.(400-402)CAG>TAG		primary ciliary dyskinesia protein 1							89.0	90.0	89.0					2																	120369265		2203	4300	6503	SO:0001587	stop_gained	200373					cilium	calmodulin binding	g.chr2:120369265C>T																												ENST00000413369.3:c.1258C>T	2.37:g.120369265C>T	ENSP00000393222:p.Gln420*					PCDP1_uc010yyq.1_Nonsense_Mutation_p.Q264*	p.Q134*	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			14	1492	+	Colorectal(110;0.196)		420						Nonsense_Mutation	SNP	ENST00000413369.3	37	c.400C>T	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	36	5.769070	0.96914	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	.	.	.	4.39	3.47	0.39725	.	0.287190	0.27048	N	0.021184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-11.805	11.5028	0.50448	0.0:0.8194:0.1806:0.0	.	.	.	.	X	134;420	.	ENSP00000295220:Q134X	Q	+	1	0	AC069154.2	120085735	1.000000	0.71417	0.998000	0.56505	0.799000	0.45148	2.049000	0.41288	2.253000	0.74438	0.650000	0.86243	CAG		0.333	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			18	46	0	0	0	0	18	46				
MYO7B	4648	broad.mit.edu	37	2	128394403	128394403	+	Missense_Mutation	SNP	C	C	G	rs372491325		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:128394403C>G	ENST00000409816.2	+	45	6196	c.6164C>G	c.(6163-6165)tCc>tGc	p.S2055C	MYO7B_ENST00000428314.1_Missense_Mutation_p.S2055C|MYO7B_ENST00000389524.4_Missense_Mutation_p.S2056C|MYO7B_ENST00000409090.1_Missense_Mutation_p.S908C|LIMS2_ENST00000494613.1_5'Flank			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2055	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCAAGATCTCCAGCTGGAGC	0.662																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(6163-6165)TCC>TGC		myosin VIIB							63.0	73.0	70.0					2																	128394403		2074	4216	6290	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128394403C>G		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.6164C>G	2.37:g.128394403C>G	ENSP00000386461:p.Ser2055Cys					MYO7B_uc002tos.1_Missense_Mutation_p.S165C|MYO7B_uc002tot.2_Missense_Mutation_p.S165C	p.S2055C	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	46	6217	+	Colorectal(110;0.1)		2055			FERM 2.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.6164C>G	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	18.50	3.637887	0.67130	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816;ENST00000409090	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.21	5.21	0.72293	FERM domain (1);Pleckstrin homology-type (1);	0.199087	0.43919	D	0.000504	D	0.86008	0.5830	M	0.77103	2.36	0.47214	D	0.999351	D;D	0.57899	0.981;0.977	P;P	0.55545	0.778;0.606	D	0.87012	0.2123	10	0.54805	T	0.06	.	19.1212	0.93364	0.0:1.0:0.0:0.0	.	970;2055	B0I1T4;Q6PIF6	.;MYO7B_HUMAN	C	2056;2055;2055;908	ENSP00000374175:S2056C;ENSP00000415090:S2055C;ENSP00000386461:S2055C;ENSP00000386850:S908C	ENSP00000374175:S2056C	S	+	2	0	MYO7B	128110873	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.439000	0.80444	2.597000	0.87782	0.585000	0.79938	TCC		0.662	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	105	0	0	0	0	3	105				
NXPH2	11249	broad.mit.edu	37	2	139429126	139429126	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:139429126C>T	ENST00000272641.3	-	2	267	c.161G>A	c.(160-162)aGt>aAt	p.S54N		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	54	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCGCAGGGGACTGATGATCCT	0.572																																						uc002tvi.2		NA																	0				ovary(3)|skin(1)	4						c.(160-162)AGT>AAT		neurexophilin 2 precursor							114.0	113.0	114.0					2																	139429126		1968	4161	6129	SO:0001583	missense	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139429126C>T	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.161G>A	2.37:g.139429126C>T	ENSP00000272641:p.Ser54Asn						p.S54N	NM_007226	NP_009157	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	161	-			54			II.		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	c.161G>A	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	C	3.879	-0.026301	0.07589	.	.	ENSG00000144227	ENST00000272641	.	.	.	6.17	4.09	0.47781	.	0.186654	0.56097	N	0.000038	T	0.32436	0.0829	N	0.24115	0.695	0.36401	D	0.863152	B	0.02656	0.0	B	0.01281	0.0	T	0.19418	-1.0306	8	.	.	.	-8.1591	5.5657	0.17168	0.0:0.442:0.0:0.558	.	54	O95156	NXPH2_HUMAN	N	54	.	.	S	-	2	0	NXPH2	139145596	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.979000	0.56888	0.760000	0.33108	0.655000	0.94253	AGT		0.572	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1			89	179	0	0	0	0	89	179				
UPP2	151531	broad.mit.edu	37	2	158971685	158971685	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:158971685G>C	ENST00000005756.4	+	3	447	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	UPP2_ENST00000605860.1_Missense_Mutation_p.E142Q|UPP2_ENST00000409859.4_Missense_Mutation_p.E142Q|UPP2_ENST00000460456.1_Intron	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	85					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	GCTCGGGTTTGAGGAAGCTGA	0.463																																						uc002tzp.2		NA																	0					0						c.(253-255)GAG>CAG		uridine phosphorylase 2 isoform a							102.0	103.0	103.0					2																	158971685		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158971685G>C	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.253G>C	2.37:g.158971685G>C	ENSP00000005756:p.Glu85Gln					UPP2_uc002tzo.2_Missense_Mutation_p.E142Q	p.E85Q	NM_173355	NP_775491	O95045	UPP2_HUMAN			3	447	+			85					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.253G>C	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	G	2.663	-0.279311	0.05642	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.87412	-2.25;-2.25	5.7	0.859	0.19036	Nucleoside phosphorylase domain (1);	0.793472	0.11905	N	0.518163	T	0.80341	0.4605	L	0.51422	1.61	0.09310	N	1	B	0.26935	0.164	B	0.24541	0.054	T	0.64162	-0.6472	10	0.27785	T	0.31	.	6.4366	0.21827	0.2752:0.1225:0.6023:0.0	.	85	O95045	UPP2_HUMAN	Q	142;85	ENSP00000387230:E142Q;ENSP00000005756:E85Q	ENSP00000005756:E85Q	E	+	1	0	UPP2	158679931	0.177000	0.23109	0.000000	0.03702	0.003000	0.03518	0.706000	0.25690	0.076000	0.16826	-0.794000	0.03295	GAG		0.463	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		15	179	0	0	0	0	15	179				
MARCH7	64844	broad.mit.edu	37	2	160604337	160604337	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:160604337C>T	ENST00000259050.4	+	5	658	c.536C>T	c.(535-537)tCa>tTa	p.S179L	MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409591.1_Missense_Mutation_p.S141L|MARCH7_ENST00000539065.1_Missense_Mutation_p.S123L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S179L	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	179	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AGAGTTCCTTCATATTCACAA	0.328																																						uc002uax.2		NA																	0					0						c.(535-537)TCA>TTA		axotrophin							68.0	68.0	68.0					2																	160604337		2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160604337C>T	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.536C>T	2.37:g.160604337C>T	ENSP00000259050:p.Ser179Leu					MARCH7_uc010foq.2_Missense_Mutation_p.S179L|MARCH7_uc010zcn.1_Missense_Mutation_p.S123L|MARCH7_uc010for.2_Missense_Mutation_p.S141L|MARCH7_uc002uay.2_RNA	p.S179L	NM_022826	NP_073737	Q9H992	MARH7_HUMAN			5	658	+			179			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.536C>T	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245971	0.80024	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	T;T;T;T	0.21191	2.03;2.3;2.03;2.02	5.87	5.87	0.94306	.	0.176164	0.51477	D	0.000086	T	0.25644	0.0624	L	0.56769	1.78	0.36133	D	0.846237	P;P;P	0.49090	0.51;0.919;0.919	B;B;B	0.39339	0.185;0.297;0.297	T	0.16100	-1.0414	10	0.35671	T	0.21	-12.0013	20.2245	0.98337	0.0:1.0:0.0:0.0	.	123;141;179	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	L	179;123;179;141	ENSP00000386830:S179L;ENSP00000442992:S123L;ENSP00000259050:S179L;ENSP00000387238:S141L	ENSP00000259050:S179L	S	+	2	0	MARCH7	160312583	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.224000	0.72265	2.770000	0.95276	0.650000	0.86243	TCA		0.328	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		58	67	0	0	0	0	58	67				
TTN	7273	broad.mit.edu	37	2	179403524	179403524	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:179403524G>A	ENST00000591111.1	-	304	94333	c.94109C>T	c.(94108-94110)tCc>tTc	p.S31370F	TTN_ENST00000342992.6_Missense_Mutation_p.S30443F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S33011F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585358.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S23946F|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S24071F|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24138F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31370	Fibronectin type-III 129. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			ACTATCTTTGGATATTGAAAG	0.383																																						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.(91327-91329)TCC>TTC		titin isoform N2-A							129.0	121.0	123.0					2																	179403524		1876	4105	5981	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403524G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94109C>T	2.37:g.179403524G>A	ENSP00000465570:p.Ser31370Phe					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24138F|TTN_uc010zfi.1_Missense_Mutation_p.S24071F|TTN_uc010zfj.1_Missense_Mutation_p.S23946F	p.S30443F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		303	91552	-			31370					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.91328C>T		.	.	.	.	.	.	.	.	.	.	G	17.41	3.382186	0.61845	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52041	0.1710	L	0.39245	1.2	0.49130	D	0.999753	B;B;B;B	0.15141	0.012;0.012;0.012;0.012	B;B;B;B	0.19946	0.027;0.027;0.027;0.018	T	0.49224	-0.8962	9	0.87932	D	0	.	15.411	0.74917	0.0684:0.0:0.9316:0.0	.	23946;24071;24138;31370	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	30443;23946;24138;24071;23943	ENSP00000343764:S30443F;ENSP00000434586:S23946F;ENSP00000340554:S24138F;ENSP00000352154:S24071F	ENSP00000340554:S24138F	S	-	2	0	TTN	179111770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.709000	0.68384	2.878000	0.98634	0.650000	0.86243	TCC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	249	0	0	0	0	37	249				
CCDC141	285025	broad.mit.edu	37	2	179733905	179733905	+	Missense_Mutation	SNP	C	C	G	rs375777823		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:179733905C>G	ENST00000420890.2	-	15	2450	c.2333G>C	c.(2332-2334)aGa>aCa	p.R778T	CCDC141_ENST00000295723.5_Missense_Mutation_p.R203T	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	778										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATCCTGGATTCTCTCTTTCTG	0.418																																						uc002unf.1		NA																	0				ovary(7)|pancreas(2)|skin(1)	10						c.(607-609)AGA>ACA		coiled-coil domain containing 141							181.0	159.0	167.0					2																	179733905		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179733905C>G	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2333G>C	2.37:g.179733905C>G	ENSP00000395995:p.Arg778Thr						p.R203T	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		5	665	-			203			Potential.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.608G>C		.	.	.	.	.	.	.	.	.	.	C	18.47	3.631269	0.67015	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.46819	0.86;1.46;1.46;1.39	5.49	4.6	0.57074	.	0.102717	0.43579	D	0.000556	T	0.47820	0.1466	N	0.19112	0.55	0.26932	N	0.966441	D	0.71674	0.998	D	0.68943	0.961	T	0.30995	-0.9959	10	0.21014	T	0.42	-17.959	11.1954	0.48709	0.0:0.9133:0.0:0.0867	.	203	Q6ZP82	CC141_HUMAN	T	778;222;203;778	ENSP00000395995:R778T;ENSP00000344627:R222T;ENSP00000295723:R203T;ENSP00000390190:R778T	ENSP00000295723:R203T	R	-	2	0	CCDC141	179442150	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	0.704000	0.25661	2.718000	0.92993	0.655000	0.94253	AGA		0.418	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		6	254	0	0	0	0	6	254				
CPS1	1373	broad.mit.edu	37	2	211521293	211521293	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:211521293C>A	ENST00000233072.5	+	30	3799	c.3603C>A	c.(3601-3603)gtC>gtA	p.V1201V	CPS1_ENST00000430249.2_Silent_p.V1207V|CPS1_ENST00000451903.2_Silent_p.V750V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1201	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATGCAGGTGTCCACTCGGGAG	0.413																																						uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3601-3603)GTC>GTA		carbamoyl-phosphate synthetase 1 isoform b							73.0	74.0	74.0					2																	211521293		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211521293C>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3603C>A	2.37:g.211521293C>A						CPS1_uc010fur.2_Silent_p.V1207V|CPS1_uc010fus.2_Silent_p.V750V	p.V1201V	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	30	3735	+			1201			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.3603C>A	CCDS2393.1																																																																																				0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			103	57	1	0	1.18e-47	1.32e-47	103	57				
SMARCAL1	50485	broad.mit.edu	37	2	217279529	217279529	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:217279529G>C	ENST00000357276.4	+	3	432	c.102G>C	c.(100-102)caG>caC	p.Q34H	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.Q34H|AC098820.2_ENST00000457694.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	34					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AACAGCATCAGAGGACTAGCT	0.522									Schimke Immuno-Osseous Dysplasia																													uc002vgc.3		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(100-102)CAG>CAC		SWI/SNF-related matrix-associated							114.0	129.0	124.0					2																	217279529		2203	4300	6503	SO:0001583	missense	50485	Schimke_Immuno-Osseous_Dysplasia	Familial Cancer Database	SIOD	chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	g.chr2:217279529G>C	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.102G>C	2.37:g.217279529G>C	ENSP00000349823:p.Gln34His					SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.Q34H|SMARCAL1_uc010fvg.2_Missense_Mutation_p.Q34H	p.Q34H	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)	3	432	+		Renal(323;0.0458)	34			Potential.		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	ENST00000357276.4	37	c.102G>C	CCDS2403.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.519230	0.64634	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000444508;ENST00000358207;ENST00000434435	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.64	2.78	0.32641	.	1.070710	0.07194	N	0.856228	T	0.25382	0.0617	L	0.34521	1.04	0.09310	N	1	D	0.57899	0.981	P	0.48840	0.592	T	0.14727	-1.0462	10	0.52906	T	0.07	-3.3822	5.0606	0.14555	0.2471:0.1518:0.6011:0.0	.	34	Q9NZC9	SMAL1_HUMAN	H	34	ENSP00000405077:Q34H;ENSP00000349823:Q34H;ENSP00000398969:Q34H;ENSP00000350940:Q34H;ENSP00000402967:Q34H	ENSP00000349823:Q34H	Q	+	3	2	SMARCAL1	216987774	0.025000	0.19082	0.010000	0.14722	0.324000	0.28378	0.172000	0.16704	0.752000	0.32923	0.563000	0.77884	CAG		0.522	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256671.2			53	105	0	0	0	0	53	105				
ZNF142	7701	broad.mit.edu	37	2	219510915	219510915	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:219510915C>T	ENST00000449707.1	-	7	1851	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	ZNF142_ENST00000411696.2_Missense_Mutation_p.R477Q	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	477					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCATGTTTTCGCATGTGCAC	0.512																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1429-1431)CGA>CAA		zinc finger protein 142							221.0	212.0	215.0					2																	219510915		2127	4227	6354	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219510915C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1430G>A	2.37:g.219510915C>T	ENSP00000408643:p.Arg477Gln					ZNF142_uc002vil.2_Missense_Mutation_p.R438Q|ZNF142_uc010fvt.2_Missense_Mutation_p.R314Q|ZNF142_uc002vim.2_Missense_Mutation_p.R314Q	p.R477Q	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	1866	-		Renal(207;0.0474)	477			C2H2-type 10.		Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.1430G>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	36	5.722858	0.96847	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.57752	0.38;0.38	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	L	0.54965	1.715	0.49582	D	0.9998	D;D	0.89917	1.0;0.998	D;D	0.79108	0.99;0.992	T	0.67150	-0.5743	10	0.44086	T	0.13	-1.0403	18.9118	0.92489	0.0:1.0:0.0:0.0	.	477;314	P52746;A8MWU9	ZN142_HUMAN;.	Q	477	ENSP00000408643:R477Q;ENSP00000398798:R477Q	ENSP00000398798:R477Q	R	-	2	0	ZNF142	219219159	1.000000	0.71417	0.990000	0.47175	0.930000	0.56654	7.651000	0.83577	2.709000	0.92574	0.561000	0.74099	CGA		0.512	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		21	93	0	0	0	0	21	93				
ZNF142	7701	broad.mit.edu	37	2	219510998	219510998	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:219510998C>T	ENST00000449707.1	-	7	1768	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	ZNF142_ENST00000411696.2_Silent_p.L449L	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	449					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGGAGTGGGTCAGCATGTGCT	0.527																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1345-1347)CTG>CTA		zinc finger protein 142							218.0	208.0	212.0					2																	219510998		2152	4269	6421	SO:0001819	synonymous_variant	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219510998C>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1347G>A	2.37:g.219510998C>T						ZNF142_uc002vil.2_Silent_p.L410L|ZNF142_uc010fvt.2_Silent_p.L286L|ZNF142_uc002vim.2_Silent_p.L286L	p.L449L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	1783	-		Renal(207;0.0474)	449			C2H2-type 9.		Q92510	Silent	SNP	ENST00000449707.1	37	c.1347G>A	CCDS42817.1																																																																																				0.527	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		22	70	0	0	0	0	22	70				
COL6A3	1293	broad.mit.edu	37	2	238255176	238255176	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:238255176C>T	ENST00000295550.4	-	32	7514	c.7062G>A	c.(7060-7062)caG>caA	p.Q2354Q	COL6A3_ENST00000347401.3_Silent_p.Q2153Q|COL6A3_ENST00000353578.4_Silent_p.Q2148Q|COL6A3_ENST00000409809.1_Silent_p.Q2148Q|COL6A3_ENST00000346358.4_Silent_p.Q2154Q|COL6A3_ENST00000472056.1_Silent_p.Q1747Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2354	Collagen-like 5.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTCTCCCTTCTGTCCAACTA	0.507																																						uc002vwl.2		NA																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(7060-7062)CAG>CAA		alpha 3 type VI collagen isoform 1 precursor							101.0	97.0	98.0					2																	238255176		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238255176C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7062G>A	2.37:g.238255176C>T						COL6A3_uc002vwo.2_Silent_p.Q2148Q|COL6A3_uc010znj.1_Silent_p.Q1747Q|COL6A3_uc002vwp.1_Silent_p.Q175Q	p.Q2354Q	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	32	7347	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2354			Collagen-like 5.|Triple-helical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.7062G>A	CCDS33412.1																																																																																				0.507	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		39	34	0	0	0	0	39	34				
OR6B3	150681	broad.mit.edu	37	2	240985469	240985470	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:240985469_240985470GG>CT	ENST00000319423.4	-	1	19_20	c.20_21CC>AG	c.(19-21)aCC>aAG	p.T7K		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TGCCGACCCTGGTGACATTCTC	0.599																																						uc010zoe.1		NA																	0					0						c.(19-21)ACC>AAG		olfactory receptor, family 6, subfamily B,																																				SO:0001583	missense	150681				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240985469_240985470GG>CT		CCDS42837.1	2q37.3	2013-09-23	2002-11-13	2002-11-15	ENSG00000178586	ENSG00000178586		"""GPCR / Class A : Olfactory receptors"""	15042	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 3 pseudogene"""	OR6B3P			Standard	NM_173351		Approved	OR6B3Q	uc010zoe.2	Q8NGW1	OTTHUMG00000152399	ENST00000319423.4:c.20_21delinsCT	2.37:g.240985469_240985470delinsCT	ENSP00000322435:p.Thr7Lys						p.T7K	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	1	20_21	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	7			Extracellular (Potential).		Q6IFH3	Missense_Mutation	DNP	ENST00000319423.4	37	c.20_21CC>AG	CCDS42837.1																																																																																				0.599	OR6B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326078.1			29	19	0	0	0	0	29	19				
SNTA1	6640	broad.mit.edu	37	20	32026798	32026798	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:32026798G>A	ENST00000217381.2	-	2	616	c.345C>T	c.(343-345)tcC>tcT	p.S115S		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	115	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TGAAGATCTTGGAAATGAGAA	0.517																																						uc002wzd.1		NA																	0				skin(1)	1						c.(343-345)TCC>TCT		acidic alpha 1 syntrophin							113.0	112.0	112.0					20																	32026798		2203	4300	6503	SO:0001819	synonymous_variant	6640				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding	g.chr20:32026798G>A	U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"""pro-TGF-alpha cytoplasmic domain-interacting protein 1"", ""dystrophin-associated protein A1, 59kDa, acidic component"""	601017	"""syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"""	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.345C>T	20.37:g.32026798G>A						SNTA1_uc010zuf.1_Silent_p.S115S	p.S115S	NM_003098	NP_003089	Q13424	SNTA1_HUMAN			2	617	-			115			PH 1.|PDZ.		A8K7H9|B4DX40|E1P5N1|Q16438	Silent	SNP	ENST00000217381.2	37	c.345C>T	CCDS13220.1																																																																																				0.517	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078704.2	NM_003098		15	214	0	0	0	0	15	214				
EDEM2	55741	broad.mit.edu	37	20	33730263	33730263	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:33730263C>A	ENST00000374492.3	-	4	382	c.277G>T	c.(277-279)Gaa>Taa	p.E93*	EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000540582.1_Nonsense_Mutation_p.E52*|EDEM2_ENST00000374491.3_Nonsense_Mutation_p.E56*	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	93					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTTTGGAATTCTGAGACATTC	0.448																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	uc002xbo.2		NA																	0					0						c.(277-279)GAA>TAA		ER degradation enhancer, mannosidase alpha-like							67.0	61.0	63.0					20																	33730263		2203	4300	6503	SO:0001587	stop_gained	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33730263C>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.277G>T	20.37:g.33730263C>A	ENSP00000363616:p.Glu93*					EDEM2_uc010zuv.1_Nonsense_Mutation_p.E52*|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Nonsense_Mutation_p.E56*|EDEM2_uc010zut.1_Nonsense_Mutation_p.E52*|EDEM2_uc002xbp.2_5'UTR|EDEM2_uc002xbn.2_5'UTR|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_5'UTR	p.E93*	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		4	377	-			93					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Nonsense_Mutation	SNP	ENST00000374492.3	37	c.277G>T	CCDS13247.1	.	.	.	.	.	.	.	.	.	.	C	44	11.152635	0.99523	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	.	.	.	5.87	5.87	0.94306	.	0.043629	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-18.9101	19.8286	0.96626	0.0:1.0:0.0:0.0	.	.	.	.	X	56;93;52	.	ENSP00000363615:E56X	E	-	1	0	EDEM2	33193924	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.693000	0.84214	2.785000	0.95823	0.655000	0.94253	GAA		0.448	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2	NM_018217		14	65	1	0	2.32e-09	2.48e-09	14	65				
PHF20	51230	broad.mit.edu	37	20	34526853	34526853	+	Silent	SNP	C	C	T	rs17347322	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:34526853C>T	ENST00000374012.3	+	16	2664	c.2535C>T	c.(2533-2535)cgC>cgT	p.R845R	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	845					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AGAAGCCCCGCGCCTATTACC	0.632													C|||	15	0.00299521	0.0023	0.0086	5008	,	,		16149	0.001		0.004	False		,,,				2504	0.001					uc002xek.1		NA																	0				ovary(1)	1						c.(2533-2535)CGC>CGT		PHD finger protein 20		C		19,4387	24.3+/-50.5	0,19,2184	47.0	44.0	45.0		2535	-5.1	0.9	20	dbSNP_123	45	86,8514	49.4+/-109.1	2,82,4216	no	coding-synonymous	PHF20	NM_016436.4		2,101,6400	TT,TC,CC		1.0,0.4312,0.8073		845/1013	34526853	105,12901	2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34526853C>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2535C>T	20.37:g.34526853C>T							p.R845R	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			16	2646	+	Breast(12;0.00631)|all_lung(11;0.0145)		845					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.2535C>T	CCDS13268.1																																																																																				0.632	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		4	73	0	0	0	0	4	73				
NDRG3	57446	broad.mit.edu	37	20	35299789	35299789	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:35299789C>G	ENST00000349004.1	-	9	624	c.543G>C	c.(541-543)ctG>ctC	p.L181L	Y_RNA_ENST00000365385.1_RNA|NDRG3_ENST00000359675.2_Silent_p.L169L|NDRG3_ENST00000540765.1_Silent_p.L77L|NDRG3_ENST00000373803.2_Silent_p.L181L|NDRG3_ENST00000373773.3_Silent_p.L86L	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	181					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CATTGGTTGTCAGGCCAGAGA	0.378																																						uc002xfw.2		NA																	0				ovary(1)	1						c.(541-543)CTG>CTC		N-myc downstream regulated gene 3 isoform a							96.0	85.0	88.0					20																	35299789		2203	4300	6503	SO:0001819	synonymous_variant	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35299789C>G	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.543G>C	20.37:g.35299789C>G						NDRG3_uc002xfx.2_Silent_p.L169L|NDRG3_uc010zvq.1_Silent_p.L86L|NDRG3_uc010zvr.1_Silent_p.L69L	p.L181L	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN			9	625	-		Myeloproliferative disorder(115;0.00878)	181					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Silent	SNP	ENST00000349004.1	37	c.543G>C	CCDS13285.1																																																																																				0.378	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			35	56	0	0	0	0	35	56				
SLC32A1	140679	broad.mit.edu	37	20	37356988	37356988	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:37356988G>A	ENST00000217420.1	+	2	1547	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	428					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ACGGGCGCCTGAAGTCCTGGG	0.652																																						uc002xjc.2		NA																	0					0						c.(1282-1284)CTG>CTA		solute carrier family 32, member 1	Glycine(DB00145)						28.0	30.0	30.0					20																	37356988		2203	4300	6503	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356988G>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1284G>A	20.37:g.37356988G>A							p.L428L	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1547	+		Myeloproliferative disorder(115;0.00878)	428			Lumenal, vesicle (Potential).		Q8N489	Silent	SNP	ENST00000217420.1	37	c.1284G>A	CCDS13307.1																																																																																				0.652	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		13	40	0	0	0	0	13	40				
PPP1R16B	26051	broad.mit.edu	37	20	37535627	37535627	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:37535627G>T	ENST00000299824.1	+	8	1017	c.828G>T	c.(826-828)caG>caT	p.Q276H	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.Q234H	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	276					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TTCAGATGCAGATGGCAGAGC	0.532																																						uc002xje.2		NA																	0				upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(826-828)CAG>CAT		protein phosphatase 1 regulatory inhibitor							181.0	168.0	173.0					20																	37535627		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37535627G>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.828G>T	20.37:g.37535627G>T	ENSP00000299824:p.Gln276His					PPP1R16B_uc010ggc.2_Missense_Mutation_p.Q234H	p.Q276H	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			8	1017	+		Myeloproliferative disorder(115;0.00878)	276			ANK 4.		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.828G>T	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.189|2.189	-0.385673|-0.385673	0.04966|0.04966	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.64618|.	-0.11;0.62|.	5.52|5.52	3.56|3.56	0.40772|0.40772	Ankyrin repeat-containing domain (3);|.	0.250685|.	0.41500|.	D|.	0.000877|.	T|T	0.23532|0.23532	0.0569|0.0569	N|N	0.20766|0.20766	0.605|0.605	0.27966|0.27966	N|N	0.936578|0.936578	B;B|.	0.09022|.	0.002;0.0|.	B;B|.	0.06405|.	0.001;0.002|.	T|T	0.19451|0.19451	-1.0305|-1.0305	10|5	0.36615|.	T|.	0.2|.	.|.	6.4696|6.4696	0.22001|0.22001	0.1596:0.2686:0.5718:0.0|0.1596:0.2686:0.5718:0.0	.|.	234;276|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	H|I	276;234|177	ENSP00000299824:Q276H;ENSP00000362428:Q234H|.	ENSP00000299824:Q276H|.	Q|R	+|+	3|2	2|0	PPP1R16B|PPP1R16B	36969041|36969041	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.408000|0.408000	0.21065|0.21065	0.675000|0.675000	0.31264|0.31264	0.650000|0.650000	0.86243|0.86243	CAG|AGA		0.532	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		17	163	1	0	4.63e-17	5.1e-17	17	163				
TOP1	7150	broad.mit.edu	37	20	39742733	39742733	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:39742733G>C	ENST00000361337.2	+	15	1826	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	526					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	ATATGTGGTAGAGTTTGACTT	0.468			T	NUP98	AML*																																	uc002xjl.2		NA		Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(1576-1578)GAG>CAG		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)						156.0	134.0	142.0					20																	39742733		2203	4300	6503	SO:0001583	missense	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39742733G>C		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1576G>C	20.37:g.39742733G>C	ENSP00000354522:p.Glu526Gln					uc002xjn.1_Intron	p.E526Q	NM_003286	NP_003277	P11387	TOP1_HUMAN			15	1822	+		Myeloproliferative disorder(115;0.00878)	526					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	ENST00000361337.2	37	c.1576G>C	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096012	0.94197	.	.	ENSG00000198900	ENST00000361337	T	0.42900	0.96	5.98	5.98	0.97165	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, C-terminal (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.62558	-0.6829	10	0.29301	T	0.29	-24.4205	20.4581	0.99154	0.0:0.0:1.0:0.0	.	526	P11387	TOP1_HUMAN	Q	526	ENSP00000354522:E526Q	ENSP00000354522:E526Q	E	+	1	0	TOP1	39176147	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.869000	0.99810	2.835000	0.97688	0.650000	0.86243	GAG		0.468	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			10	157	0	0	0	0	10	157				
ADNP	23394	broad.mit.edu	37	20	49510939	49510939	+	Missense_Mutation	SNP	C	C	G	rs562055324		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:49510939C>G	ENST00000396029.3	-	5	879	c.312G>C	c.(310-312)agG>agC	p.R104S	ADNP_ENST00000396032.3_Missense_Mutation_p.R104S|ADNP_ENST00000371602.4_Missense_Mutation_p.R104S|ADNP_ENST00000349014.3_Missense_Mutation_p.R104S	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	104					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TAAGGAGAATCCTATTTTCAA	0.408																																						uc002xvt.1		NA																	0				ovary(2)	2						c.(310-312)AGG>AGC		activity-dependent neuroprotector							92.0	94.0	93.0					20																	49510939		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49510939C>G	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.312G>C	20.37:g.49510939C>G	ENSP00000379346:p.Arg104Ser					ADNP_uc002xvu.1_Missense_Mutation_p.R104S	p.R104S	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN			5	657	-			104					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.312G>C	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180282	0.38511	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032;ENST00000534467	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	5.42	4.46	0.54185	.	0.084803	0.85682	D	0.000000	T	0.57460	0.2055	L	0.44542	1.39	0.47037	D	0.999295	P	0.43477	0.808	B	0.35688	0.208	T	0.57481	-0.7804	10	0.30078	T	0.28	-21.4304	11.3746	0.49719	0.0:0.8568:0.0:0.1432	.	104	Q9H2P0	ADNP_HUMAN	S	104	ENSP00000360662:R104S;ENSP00000342905:R104S;ENSP00000379346:R104S;ENSP00000379349:R104S;ENSP00000436181:R104S	ENSP00000342905:R104S	R	-	3	2	ADNP	48944346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.243000	0.32767	2.705000	0.92388	0.655000	0.94253	AGG		0.408	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		32	160	0	0	0	0	32	160				
ZNF512B	57473	broad.mit.edu	37	20	62648154	62648154	+	Intron	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr20:62648154G>C	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.E535Q			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)					GATTGGGATTGAGGAGGAAGA	0.542																																						uc002yho.2		NA																	0				ovary(2)	2						c.(1603-1605)GAG>CAG		PRP6 pre-mRNA processing factor 6 homolog							185.0	153.0	164.0					20																	62648154		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62648154G>C	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.4+31903C>G	20.37:g.62648154G>C						PRPF6_uc002yhp.2_Missense_Mutation_p.E535Q	p.E535Q	NM_012469	NP_036601	O94906	PRP6_HUMAN			12	1771	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		535					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1603G>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429206	0.96131	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.37235	1.21;1.21	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.70859	0.3272	M	0.91972	3.26	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.948	T	0.75121	-0.3429	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	535;535	O94906-2;O94906	.;PRP6_HUMAN	Q	535	ENSP00000266079:E535Q;ENSP00000446216:E535Q	ENSP00000266079:E535Q	E	+	1	0	PRPF6	62118598	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	9.460000	0.97641	2.937000	0.99478	0.650000	0.86243	GAG		0.542	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		7	75	0	0	0	0	7	75				
TPTE	7179	broad.mit.edu	37	21	10959802	10959802	+	Splice_Site	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:10959802T>C	ENST00000361285.4	-	8	503		c.e8-2		TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000298232.7_Splice_Site	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTAACACACTTTAGCCACCA	0.318																																						uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.e8-1		transmembrane phosphatase with tensin homology							91.0	87.0	88.0					21																	10959802		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10959802T>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.174-2A>G	21.37:g.10959802T>C						TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.S40_splice|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	p.S58_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	8	542	-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.174_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	t	2.987	-0.208987	0.06140	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000328758	.	.	.	1.36	1.36	0.22044	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9002	0.13771	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPTE	9981673	0.084000	0.21492	0.015000	0.15790	0.010000	0.07245	2.144000	0.42197	0.884000	0.36064	0.163000	0.16589	.		0.318	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Intron	23	91	0	0	0	0	23	91				
KCNJ15	3772	broad.mit.edu	37	21	39671931	39671931	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:39671931C>T	ENST00000328656.4	+	4	1051	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	KCNJ15_ENST00000398930.1_Silent_p.L250L|KCNJ15_ENST00000398934.1_Silent_p.L250L|KCNJ15_ENST00000398932.1_Silent_p.L250L|KCNJ15_ENST00000398938.2_Silent_p.L250L	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	250					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	CTTCCTCATTCTGCCCATGAC	0.557																																						uc002ywv.2		NA																	0				ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						c.(748-750)CTG>TTG		potassium inwardly-rectifying channel J15							62.0	65.0	64.0					21																	39671931		2203	4300	6503	SO:0001819	synonymous_variant	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671931C>T	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.748C>T	21.37:g.39671931C>T						KCNJ15_uc002yww.2_Silent_p.L250L|KCNJ15_uc002ywx.2_Silent_p.L250L	p.L250L	NM_002243	NP_002234	Q99712	IRK15_HUMAN			4	1050	+			250			Cytoplasmic (By similarity).		D3DSH5|O00564|Q96L28|Q99446	Silent	SNP	ENST00000328656.4	37	c.748C>T	CCDS13656.1																																																																																				0.557	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2	NM_002243		35	66	0	0	0	0	35	66				
COL6A1	1291	broad.mit.edu	37	21	47422131	47422131	+	Splice_Site	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:47422131G>C	ENST00000361866.3	+	32	2180		c.e32-1		COL6A1_ENST00000498614.1_Splice_Site	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		TTGCTATGCAGAGCCATCAAG	0.711																																						uc002zhu.1		NA																	0				ovary(1)	1						c.e32-1		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						10.0	11.0	11.0					21																	47422131		2181	4254	6435	SO:0001630	splice_region_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47422131G>C	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2067-1G>C	21.37:g.47422131G>C						COL6A1_uc010gqd.1_Splice_Site_p.E20_splice|COL6A1_uc002zhv.1_Splice_Site_p.E20_splice|COL6A1_uc002zhw.1_5'Flank	p.E689_splice	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	32	2169	+	all_hematologic(128;0.24)							O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Splice_Site	SNP	ENST00000361866.3	37	c.2067_splice	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265950	0.40095	.	.	ENSG00000142156	ENST00000361866	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9219	0.86166	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL6A1	46246559	1.000000	0.71417	0.891000	0.34965	0.315000	0.28087	8.828000	0.92047	1.993000	0.58246	0.462000	0.41574	.		0.711	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848	Intron	2	13	0	0	0	0	2	13				
LSS	4047	broad.mit.edu	37	21	47636350	47636350	+	Missense_Mutation	SNP	C	C	T	rs150614553		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr21:47636350C>T	ENST00000397728.3	-	7	814	c.736G>A	c.(736-738)Gtt>Att	p.V246I	LSS_ENST00000464357.1_5'UTR|LSS_ENST00000457828.2_Missense_Mutation_p.V166I|LSS_ENST00000356396.4_Missense_Mutation_p.V246I|LSS_ENST00000522411.1_Missense_Mutation_p.V235I	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	246					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CTCAGCCGAACGGCGTAGCAG	0.652																																					Pancreas(114;955 2313 34923 50507)	uc002zij.2		NA																	0					0						c.(736-738)GTT>ATT		lanosterol synthase isoform 1		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	45.0	46.0	46.0		736,703,496,736	1.6	0.0	21	dbSNP_134	46	0,8600	1.2+/-3.3	0,0,4300	no	missense,missense,missense,missense	LSS	NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5	29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	246/733,235/722,166/653,246/733	47636350	1,13005	2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47636350C>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.736G>A	21.37:g.47636350C>T	ENSP00000380837:p.Val246Ile					LSS_uc011afv.1_Missense_Mutation_p.V235I|LSS_uc002zil.2_Missense_Mutation_p.V246I|LSS_uc002zik.2_Missense_Mutation_p.V166I	p.V246I	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			7	815	-	Breast(49;0.214)		246					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.736G>A	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	C	7.790	0.711424	0.15239	2.27E-4	0.0	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411;ENST00000450351	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.43	1.65	0.23941	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.813950	0.11632	N	0.544686	T	0.25865	0.0630	N	0.17723	0.515	0.09310	N	1	B;B	0.13594	0.008;0.005	B;B	0.04013	0.001;0.001	T	0.18903	-1.0322	10	0.45353	T	0.12	.	6.8055	0.23774	0.0:0.1372:0.1269:0.7359	.	235;246	E9PEI9;P48449	.;ERG7_HUMAN	I	246;166;246;235;247	ENSP00000348762:V246I;ENSP00000409191:V166I;ENSP00000380837:V246I;ENSP00000429133:V235I;ENSP00000391368:V247I	ENSP00000348762:V246I	V	-	1	0	LSS	46460778	0.370000	0.25047	0.033000	0.17914	0.003000	0.03518	1.818000	0.39012	0.042000	0.15717	-2.502000	0.00191	GTT		0.652	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			34	48	0	0	0	0	34	48				
SMARCB1	6598	broad.mit.edu	37	22	24135750	24135750	+	Missense_Mutation	SNP	C	C	A	rs200394488		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:24135750C>A	ENST00000263121.7	+	3	433	c.237C>A	c.(235-237)caC>caA	p.H79Q	SMARCB1_ENST00000407082.3_Missense_Mutation_p.H79Q|SMARCB1_ENST00000407422.3_Missense_Mutation_p.H70Q|SMARCB1_ENST00000344921.6_Missense_Mutation_p.H70Q	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	79					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.H79H(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TTACAGATCACGGATACACGA	0.537			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																uc002zyb.2		NA	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	D|N|F|S	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""			M		malignant rhabdoid	malignant rhabdoid 		3	Unknown(2)|Substitution - coding silent(1)	p.?(2)	soft_tissue(2)|large_intestine(1)	soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407						c.(235-237)CAC>CAA		SWI/SNF related, matrix associated, actin							170.0	154.0	160.0					22																	24135750		2203	4300	6503	SO:0001583	missense	6598	Rhabdoid_Predisposition_syndrome|Schwannomatosis			cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	g.chr22:24135750C>A	U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.237C>A	22.37:g.24135750C>A	ENSP00000263121:p.His79Gln					SMARCB1_uc002zyg.2_Missense_Mutation_p.H79Q|SMARCB1_uc011ajb.1_Missense_Mutation_p.H70Q|SMARCB1_uc002zya.2_Missense_Mutation_p.H79Q|SMARCB1_uc002zyc.2_Missense_Mutation_p.H70Q|SMARCB1_uc002zyd.2_Missense_Mutation_p.H70Q|SMARCB1_uc002zye.1_Missense_Mutation_p.H42Q|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron	p.H79Q	NM_003073	NP_003064	Q12824	SNF5_HUMAN			3	444	+		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)	79					O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	ENST00000263121.7	37	c.237C>A	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	c	4.139	0.024191	0.08006	.	.	ENSG00000099956	ENST00000417137;ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85	5.7	-5.89	0.02282	.	0.000000	0.85682	D	0.000000	D	0.88123	0.6352	N	0.14661	0.345	0.48341	D	0.999636	D;B;B;B;B;B;D	0.89917	1.0;0.205;0.059;0.003;0.0;0.003;0.989	D;B;B;B;B;B;D	0.91635	0.999;0.064;0.03;0.012;0.003;0.003;0.968	D	0.85703	0.1314	10	0.42905	T	0.14	-23.6878	15.2043	0.73165	0.0:0.4652:0.0:0.5348	.	70;79;29;70;70;79;79	B4E117;B4DRT1;Q86WI7;G5E975;Q17S11;Q12824;C9JTA6	.;.;.;.;.;SNF5_HUMAN;.	Q	79;70;79;70;79	ENSP00000388489:H79Q;ENSP00000340883:H70Q;ENSP00000263121:H79Q;ENSP00000383984:H70Q;ENSP00000385226:H79Q	ENSP00000263121:H79Q	H	+	3	2	SMARCB1	22465750	0.000000	0.05858	0.729000	0.30791	0.374000	0.29953	-1.786000	0.01766	-1.280000	0.02402	-1.130000	0.01982	CAC		0.537	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073		95	178	1	0	1.3e-36	1.46e-36	95	178				
CABIN1	23523	broad.mit.edu	37	22	24439409	24439409	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:24439409T>C	ENST00000398319.2	+	6	774	c.389T>C	c.(388-390)aTt>aCt	p.I130T	CABIN1_ENST00000405822.2_Missense_Mutation_p.I130T|CABIN1_ENST00000263119.5_Missense_Mutation_p.I130T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	130					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGGTATAAGATTGGACATGTG	0.552																																						uc002zzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(388-390)ATT>ACT		calcineurin binding protein 1							145.0	121.0	129.0					22																	24439409		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24439409T>C	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.389T>C	22.37:g.24439409T>C	ENSP00000381364:p.Ile130Thr					CABIN1_uc002zzj.1_Missense_Mutation_p.I130T|CABIN1_uc002zzl.1_Missense_Mutation_p.I130T|CABIN1_uc010guk.1_Missense_Mutation_p.I85T|CABIN1_uc002zzk.1_Missense_Mutation_p.I85T	p.I130T	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			6	516	+			130			TPR 3.		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.389T>C	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476907	0.84640	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.74526	-0.85;0.14;0.14;-0.85;0.14	5.34	5.34	0.76211	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.050633	0.85682	D	0.000000	D	0.85725	0.5763	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.978;0.982	D;P;D;D	0.75020	0.933;0.866;0.971;0.985	D	0.87690	0.2553	10	0.87932	D	0	.	14.8597	0.70372	0.0:0.0:0.0:1.0	.	85;130;130;130	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	T	85;130;130;85;130;130	ENSP00000394209:I85T;ENSP00000263119:I130T;ENSP00000384694:I130T;ENSP00000412389:I85T;ENSP00000381364:I130T	ENSP00000263119:I130T	I	+	2	0	CABIN1	22769409	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	7.932000	0.87634	2.179000	0.69175	0.529000	0.55759	ATT		0.552	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		43	111	0	0	0	0	43	111				
SUSD2	56241	broad.mit.edu	37	22	24580746	24580746	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:24580746C>G	ENST00000358321.3	+	5	881	c.620C>G	c.(619-621)tCa>tGa	p.S207*		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	207					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ATGCCCTACTCACAGGAGTGG	0.607																																						uc002zzn.1		NA																	0				skin(1)	1						c.(619-621)TCA>TGA		sushi domain containing 2 precursor							73.0	65.0	67.0					22																	24580746		2203	4300	6503	SO:0001587	stop_gained	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24580746C>G	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.620C>G	22.37:g.24580746C>G	ENSP00000351075:p.Ser207*						p.S207*	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			5	664	+			207			Extracellular (Potential).		Q9H5Y6	Nonsense_Mutation	SNP	ENST00000358321.3	37	c.620C>G	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441625	0.96187	.	.	ENSG00000099994	ENST00000358321	.	.	.	4.12	4.12	0.48240	.	0.905562	0.09397	N	0.807797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-8.239	10.3998	0.44222	0.0:0.8002:0.1998:0.0	.	.	.	.	X	207	.	ENSP00000351075:S207X	S	+	2	0	SUSD2	22910746	0.976000	0.34144	0.044000	0.18714	0.148000	0.21650	3.024000	0.49674	2.009000	0.58944	0.450000	0.29827	TCA		0.607	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601		11	52	0	0	0	0	11	52				
TBC1D10A	83874	broad.mit.edu	37	22	30689980	30689980	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:30689980G>A	ENST00000215790.7	-	7	989	c.825C>T	c.(823-825)ttC>ttT	p.F275F	TBC1D10A_ENST00000403477.3_Silent_p.F282F|TBC1D10A_ENST00000403362.1_Silent_p.F187F|RP1-130H16.18_ENST00000447976.1_Silent_p.F149F	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	275	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGCGCACATGAACCATTCTG	0.592																																						uc011akt.1		NA																	0				ovary(1)	1						c.(823-825)TTC>TTT		TBC1 domain family, member 10A							157.0	143.0	147.0					22																	30689980		2203	4300	6503	SO:0001819	synonymous_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30689980G>A	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.825C>T	22.37:g.30689980G>A						GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Silent_p.F133F|TBC1D10A_uc003ahj.3_Silent_p.F187F|TBC1D10A_uc010gvu.2_Silent_p.F282F|TBC1D10A_uc003ahk.3_Silent_p.F275F	p.F275F	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN			7	849	-			275			Rab-GAP TBC.		B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.825C>T	CCDS13874.1																																																																																				0.592	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		22	152	0	0	0	0	22	152				
DEPDC5	9681	broad.mit.edu	37	22	32210996	32210996	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:32210996G>C	ENST00000382112.3	+	20	1534	c.1464G>C	c.(1462-1464)gaG>gaC	p.E488D	DEPDC5_ENST00000400248.2_Missense_Mutation_p.E488D|DEPDC5_ENST00000536766.1_Missense_Mutation_p.E460D|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E488D|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E488D|DEPDC5_ENST00000400242.3_Missense_Mutation_p.E488D|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E488D|DEPDC5_ENST00000400246.1_Missense_Mutation_p.E488D|DEPDC5_ENST00000382105.2_Missense_Mutation_p.E488D|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E488D	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	488					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAGAGCGAGAGAGTCACAGTC	0.532																																						uc003als.2		NA																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(1462-1464)GAG>GAC		DEP domain containing 5 isoform 1							87.0	88.0	88.0					22																	32210996		2051	4196	6247	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32210996G>C	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1464G>C	22.37:g.32210996G>C	ENSP00000371546:p.Glu488Asp					DEPDC5_uc011als.1_Missense_Mutation_p.E488D|DEPDC5_uc011alu.1_Missense_Mutation_p.E488D|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.E488D|DEPDC5_uc003alr.1_Missense_Mutation_p.E488D|DEPDC5_uc011alt.1_Missense_Mutation_p.E460D	p.E488D	NM_014662	NP_055477	O75140	DEPD5_HUMAN			21	1606	+			488					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1464G>C	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409316	0.25378	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.46819	1.46;1.44;0.86;1.84;1.85;1.83;1.44;1.85;1.83;1.85	6.14	-3.1	0.05315	.	0.144156	0.64402	N	0.000009	T	0.25306	0.0615	L	0.51422	1.61	0.80722	D	1	P;B;B;B;B;B	0.38922	0.651;0.037;0.022;0.304;0.435;0.152	B;B;B;B;B;B	0.32677	0.15;0.024;0.011;0.096;0.15;0.085	T	0.19321	-1.0309	10	0.14656	T	0.56	.	1.8353	0.03138	0.3295:0.2153:0.3455:0.1097	.	488;460;488;488;488;488	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	D	488;460;488;488;488;488;488;488;488;488;488	ENSP00000440210:E488D;ENSP00000441358:E460D;ENSP00000383101:E488D;ENSP00000266091:E488D;ENSP00000383108:E488D;ENSP00000383105:E488D;ENSP00000371539:E488D;ENSP00000371546:E488D;ENSP00000371545:E488D;ENSP00000383107:E488D	ENSP00000266091:E488D	E	+	3	2	DEPDC5	30540996	0.888000	0.30383	0.509000	0.27700	0.607000	0.37147	0.526000	0.22971	-0.370000	0.08016	-0.355000	0.07637	GAG		0.532	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		5	169	0	0	0	0	5	169				
DEPDC5	9681	broad.mit.edu	37	22	32215016	32215016	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:32215016G>A	ENST00000382112.3	+	21	1745	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	DEPDC5_ENST00000400248.2_Missense_Mutation_p.E559K|DEPDC5_ENST00000536766.1_Missense_Mutation_p.E531K|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E559K|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E559K|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E559K|DEPDC5_ENST00000400246.1_Missense_Mutation_p.E559K|DEPDC5_ENST00000382105.2_Missense_Mutation_p.E559K|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E559K	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	559					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGATGTCCTGGAGAACATGAT	0.498																																						uc003als.2		NA																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(1675-1677)GAG>AAG		DEP domain containing 5 isoform 1							100.0	102.0	102.0					22																	32215016		2074	4210	6284	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32215016G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1675G>A	22.37:g.32215016G>A	ENSP00000371546:p.Glu559Lys					DEPDC5_uc011als.1_Missense_Mutation_p.E559K|DEPDC5_uc011alu.1_Missense_Mutation_p.E559K|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.E559K|DEPDC5_uc003alu.2_5'UTR|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alt.1_Missense_Mutation_p.E531K	p.E559K	NM_014662	NP_055477	O75140	DEPD5_HUMAN			22	1817	+			559					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.1675G>A	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498214	0.85069	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T	0.30714	1.54;1.53;1.92;1.92;1.91;1.52;1.93;1.91;1.92	5.68	5.68	0.88126	.	0.052258	0.85682	D	0.000000	T	0.44477	0.1295	L	0.57536	1.79	0.80722	D	1	P;D;P;P;P	0.55605	0.824;0.972;0.953;0.555;0.919	B;P;P;B;B	0.53912	0.3;0.737;0.551;0.22;0.395	T	0.09618	-1.0666	10	0.18276	T	0.48	.	18.7742	0.91904	0.0:0.0:1.0:0.0	.	559;531;559;559;559	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140	.;.;.;.;DEPD5_HUMAN	K	559;531;559;559;559;559;559;559;559;559	ENSP00000440210:E559K;ENSP00000441358:E531K;ENSP00000266091:E559K;ENSP00000383108:E559K;ENSP00000383105:E559K;ENSP00000371539:E559K;ENSP00000371546:E559K;ENSP00000371545:E559K;ENSP00000383107:E559K	ENSP00000266091:E559K	E	+	1	0	DEPDC5	30545016	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.726000	0.98782	2.676000	0.91093	0.563000	0.77884	GAG		0.498	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		5	151	0	0	0	0	5	151				
TUBGCP6	85378	broad.mit.edu	37	22	50656807	50656807	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr22:50656807G>A	ENST00000248846.5	-	23	5083	c.4979C>T	c.(4978-4980)tCt>tTt	p.S1660F	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1660					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAACTGCACAGAGCCGGCCAT	0.657																																						uc003bkb.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(4978-4980)TCT>TTT		tubulin, gamma complex associated protein 6							38.0	38.0	38.0					22																	50656807		2199	4277	6476	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50656807G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4979C>T	22.37:g.50656807G>A	ENSP00000248846:p.Ser1660Phe					TUBGCP6_uc003bka.1_Intron|TUBGCP6_uc010har.1_Missense_Mutation_p.S1652F|TUBGCP6_uc010has.1_RNA	p.S1660F	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	23	5491	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1660					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.4979C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349002	0.82132	.	.	ENSG00000128159	ENST00000248846	T	0.07688	3.17	4.99	3.9	0.45041	.	0.209902	0.43110	D	0.000607	T	0.25382	0.0617	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.01162	-1.1432	10	0.72032	D	0.01	.	14.4341	0.67270	0.0:0.1485:0.8515:0.0	.	1652;1660	B2RWN4;Q96RT7	.;GCP6_HUMAN	F	1660	ENSP00000248846:S1660F	ENSP00000248846:S1660F	S	-	2	0	TUBGCP6	48998934	1.000000	0.71417	0.949000	0.38748	0.881000	0.50899	6.371000	0.73119	2.319000	0.78375	0.591000	0.81541	TCT		0.657	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		14	59	0	0	0	0	14	59				
HDAC11	79885	broad.mit.edu	37	3	13538259	13538259	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:13538259C>T	ENST00000295757.3	+	4	459	c.276C>T	c.(274-276)atC>atT	p.I92I	HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000433119.1_Silent_p.I64I|HDAC11_ENST00000437379.2_Silent_p.I64I|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000446613.2_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	92	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TTGCTACCATCACAGAAATCC	0.572											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bxy.2		NA																	0				ovary(2)	2						c.(274-276)ATC>ATT		histone deacetylase 11 isoform 1							97.0	93.0	94.0					3																	13538259		2203	4300	6503	SO:0001819	synonymous_variant	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chr3:13538259C>T	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.276C>T	3.37:g.13538259C>T			OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688	HDAC11_uc010heb.2_Silent_p.I64I|HDAC11_uc011aux.1_Intron|HDAC11_uc003bxz.2_Silent_p.I64I|HDAC11_uc011auy.1_Intron	p.I92I	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN			4	409	+			92			Histone deacetylase.		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Silent	SNP	ENST00000295757.3	37	c.276C>T	CCDS2615.1																																																																																				0.572	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		4	87	0	0	0	0	4	87				
TOP2B	7155	broad.mit.edu	37	3	25670595	25670595	+	Silent	SNP	G	G	A	rs370638500	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:25670595G>A	ENST00000264331.4	-	14	1730	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	TOP2B_ENST00000435706.2_Silent_p.F572F	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	577	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TGTGATGGATGAAATTAATAA	0.274													G|||	3	0.000599042	0.0023	0.0	5008	,	,		13001	0.0		0.0	False		,,,				2504	0.0					uc011awn.1		NA																	0				breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(1729-1731)TTC>TTT		DNA topoisomerase II, beta isozyme		G		6,3600		0,6,1797	117.0	113.0	114.0		1716	3.4	1.0	3		114	0,8140		0,0,4070	no	coding-synonymous	TOP2B	NM_001068.2		0,6,5867	AA,AG,GG		0.0,0.1664,0.0511		572/1622	25670595	6,11740	1803	4070	5873	SO:0001819	synonymous_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25670595G>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1731C>T	3.37:g.25670595G>A						TOP2B_uc003cdj.2_Silent_p.F572F	p.F577F	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			14	1774	-			577					Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37	c.1731C>T																																																																																					0.274	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				43	49	0	0	0	0	43	49				
KIF15	56992	broad.mit.edu	37	3	44844322	44844322	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:44844322G>C	ENST00000326047.4	+	14	1675	c.1526G>C	c.(1525-1527)aGa>aCa	p.R509T	KIF15_ENST00000425755.1_Missense_Mutation_p.R144T	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	509					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CACCACCCCAGAGTTGCAAAG	0.383																																						uc003cnx.3		NA																	0				ovary(1)	1						c.(1525-1527)AGA>ACA		kinesin family member 15							101.0	103.0	103.0					3																	44844322		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44844322G>C	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1526G>C	3.37:g.44844322G>C	ENSP00000324020:p.Arg509Thr					KIF15_uc010hiq.2_Missense_Mutation_p.R412T|KIF15_uc003cny.1_Missense_Mutation_p.R144T	p.R509T	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	14	1675	+			509			Potential.		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.1526G>C	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037775	0.75617	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.79247	-0.34;-1.25;1.85	5.87	5.87	0.94306	Kinesin-like, KLP2 (1);	0.000000	0.48286	D	0.000193	D	0.86752	0.6008	M	0.62723	1.935	0.44289	D	0.997159	D;D	0.64830	0.994;0.987	D;D	0.65443	0.912;0.935	D	0.85726	0.1328	10	0.51188	T	0.08	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	144;509	C9JKA9;Q9NS87	.;KIF15_HUMAN	T	509;281;508;144	ENSP00000324020:R509T;ENSP00000425499:R281T;ENSP00000389982:R144T	ENSP00000324020:R509T	R	+	2	0	KIF15	44819326	1.000000	0.71417	0.662000	0.29724	0.994000	0.84299	5.867000	0.69597	2.780000	0.95670	0.655000	0.94253	AGA		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			18	100	0	0	0	0	18	100				
CLEC3B	7123	broad.mit.edu	37	3	45077096	45077096	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:45077096G>C	ENST00000296130.4	+	3	469	c.289G>C	c.(289-291)Gac>Cac	p.D97H	RNU5B-3P_ENST00000516601.1_RNA|CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Missense_Mutation_p.D55H	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	97	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	GGCCAGCGAGGACTGCATCTC	0.632																																					GBM(139;1487 3263 30871)	uc003cok.3		NA																	0					0						c.(289-291)GAC>CAC		C-type lectin domain family 3, member B	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						59.0	55.0	56.0					3																	45077096		2203	4300	6503	SO:0001583	missense	7123				skeletal system development	extracellular space	protein binding|sugar binding	g.chr3:45077096G>C		CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"""C-type lectin domain containing"""	11891	protein-coding gene	gene with protein product		187520	"""tetranectin (plasminogen binding protein)"""	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.289G>C	3.37:g.45077096G>C	ENSP00000296130:p.Asp97His					CLEC3B_uc003col.2_Missense_Mutation_p.D55H	p.D97H	NM_003278	NP_003269	P05452	TETN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	3	385	+			97			C-type lectin.		Q6FGX6	Missense_Mutation	SNP	ENST00000296130.4	37	c.289G>C	CCDS2726.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470540	0.63625	.	.	ENSG00000163815	ENST00000296130;ENST00000428034	T;T	0.28895	1.59;1.59	4.53	4.53	0.55603	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.176241	0.48767	D	0.000172	T	0.26774	0.0655	L	0.43757	1.38	0.46901	D	0.999246	B	0.31730	0.337	B	0.37015	0.239	T	0.04440	-1.0951	10	0.22109	T	0.4	-35.0383	9.6016	0.39607	0.0817:0.1442:0.7742:0.0	.	97	P05452	TETN_HUMAN	H	97;55	ENSP00000296130:D97H;ENSP00000396013:D55H	ENSP00000296130:D97H	D	+	1	0	CLEC3B	45052100	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.710000	0.68392	2.235000	0.73313	0.561000	0.74099	GAC		0.632	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256745.1	NM_003278		15	29	0	0	0	0	15	29				
PTPN23	25930	broad.mit.edu	37	3	47451515	47451515	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:47451515G>A	ENST00000265562.4	+	20	2304	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	PTPN23_ENST00000431726.1_Missense_Mutation_p.E617K	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	743	Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGACCCCCCTGAGGAGCTGCG	0.682																																						uc003crf.1		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(2227-2229)GAG>AAG		protein tyrosine phosphatase, non-receptor type							31.0	31.0	31.0					3																	47451515		2201	4296	6497	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47451515G>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2227G>A	3.37:g.47451515G>A	ENSP00000265562:p.Glu743Lys					PTPN23_uc011baw.1_Missense_Mutation_p.E708K|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Missense_Mutation_p.E613K	p.E743K	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	2323	+			743			Pro-rich.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.2227G>A	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258321	0.39896	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.02682	4.2	3.77	3.77	0.43336	.	0.072199	0.53938	D	0.000043	T	0.06188	0.0160	L	0.27053	0.805	0.52099	D	0.999941	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.58020	-0.7710	10	0.17832	T	0.49	-22.9821	13.1437	0.59448	0.0:0.0:1.0:0.0	.	617;743	B4DST5;Q9H3S7	.;PTN23_HUMAN	K	708;743	ENSP00000265562:E743K	ENSP00000265562:E743K	E	+	1	0	PTPN23	47426519	1.000000	0.71417	0.879000	0.34478	0.044000	0.14063	8.423000	0.90264	1.951000	0.56629	0.455000	0.32223	GAG		0.682	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		9	6	0	0	0	0	9	6				
P4HTM	54681	broad.mit.edu	37	3	49040007	49040007	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:49040007C>G	ENST00000383729.4	+	4	1073	c.702C>G	c.(700-702)atC>atG	p.I234M	P4HTM_ENST00000343546.4_Missense_Mutation_p.I234M	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	234	EF-hand 2.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	ACGCCGCGATCAAGGCTGACC	0.562																																						uc003cvg.2		NA																	0				skin(1)|pancreas(1)	2						c.(700-702)ATC>ATG		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						187.0	164.0	172.0					3																	49040007		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49040007C>G		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.702C>G	3.37:g.49040007C>G	ENSP00000373235:p.Ile234Met					P4HTM_uc003cvh.2_Missense_Mutation_p.I234M|P4HTM_uc010hkm.1_Missense_Mutation_p.I120M	p.I234M	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			4	1051	+			234			Lumenal (Potential).|EF-hand 2.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.702C>G	CCDS43089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.159588|3.159588	0.57368|0.57368	.|.	.|.	ENSG00000178467|ENSG00000178467	ENST00000383729;ENST00000343546|ENST00000444213	T|.	0.78126|.	-1.15|.	5.52|5.52	4.63|4.63	0.57726|0.57726	EF-hand-like domain (1);Prolyl 4-hydroxylase, alpha subunit (1);|.	0.117336|.	0.64402|.	D|.	0.000016|.	T|T	0.34164|0.34164	0.0888|0.0888	N|N	0.08118|0.08118	0|0	0.36988|0.36988	D|D	0.894651|0.894651	D;D;P|.	0.59357|.	0.983;0.985;0.863|.	P;P;P|.	0.54460|.	0.753;0.753;0.617|.	T|T	0.34875|0.34875	-0.9811|-0.9811	10|5	0.72032|.	D|.	0.01|.	-28.7394|-28.7394	10.5542|10.5542	0.45107|0.45107	0.139:0.5953:0.2656:0.0|0.139:0.5953:0.2656:0.0	.|.	234;234;234|.	Q9NXG6-2;Q9NXG6-3;Q9NXG6|.	.;.;P4HTM_HUMAN|.	M|E	234|164	ENSP00000373235:I234M|.	ENSP00000341422:I234M|.	I|Q	+|+	3|1	3|0	P4HTM|P4HTM	49015011|49015011	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.763000|0.763000	0.43281|0.43281	1.765000|1.765000	0.38481|0.38481	1.301000|1.301000	0.44836|0.44836	0.563000|0.563000	0.77884|0.77884	ATC|CAA		0.562	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		53	52	0	0	0	0	53	52				
APPL1	26060	broad.mit.edu	37	3	57291322	57291322	+	Silent	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:57291322A>G	ENST00000288266.3	+	15	1443	c.1296A>G	c.(1294-1296)ggA>ggG	p.G432G		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	432					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GATCCTTAGGATCTGAGTCTA	0.433																																						uc003dio.2		NA																	0				breast(1)	1						c.(1294-1296)GGA>GGG		adaptor protein, phosphotyrosine interaction, PH							124.0	125.0	125.0					3																	57291322		2203	4300	6503	SO:0001819	synonymous_variant	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57291322A>G	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1296A>G	3.37:g.57291322A>G						APPL1_uc010hnb.2_Silent_p.G432G|APPL1_uc011bey.1_Silent_p.G415G	p.G432G	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	15	1443	+			432					Q9P2B9	Silent	SNP	ENST00000288266.3	37	c.1296A>G	CCDS2882.1																																																																																				0.433	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		70	41	0	0	0	0	70	41				
BBX	56987	broad.mit.edu	37	3	107491933	107491933	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107491933G>C	ENST00000325805.8	+	11	1652	c.1365G>C	c.(1363-1365)aaG>aaC	p.K455N	BBX_ENST00000406780.1_Missense_Mutation_p.K455N|BBX_ENST00000415149.2_Missense_Mutation_p.K455N|BBX_ENST00000402543.1_Missense_Mutation_p.K455N|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	455	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAAAAAGAAGAAAAGCAAAA	0.388																																						uc010hpr.2		NA																	0				ovary(3)|skin(1)	4						c.(1363-1365)AAG>AAC		HMG-BOX transcription factor BBX isoform 1							55.0	59.0	58.0					3																	107491933		2203	4299	6502	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107491933G>C	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1365G>C	3.37:g.107491933G>C	ENSP00000319974:p.Lys455Asn					BBX_uc003dwk.3_Missense_Mutation_p.K455N|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.K476N|BBX_uc003dwm.3_Missense_Mutation_p.K455N|BBX_uc003dwo.3_5'Flank	p.K455N	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1692	+			455			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1365G>C	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196579	0.58126	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	D;D;D;D	0.98164	-4.76;-4.75;-4.76;-4.76	6.07	4.29	0.51040	.	0.193055	0.53938	D	0.000047	D	0.97745	0.9260	L	0.32530	0.975	0.39067	D	0.96064	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.77557	0.943;0.959;0.99	D	0.98934	1.0788	10	0.72032	D	0.01	-13.5559	11.7053	0.51593	0.1915:0.0:0.8085:0.0	.	455;455;455	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	N	455	ENSP00000408358:K455N;ENSP00000385317:K455N;ENSP00000319974:K455N;ENSP00000385530:K455N	ENSP00000319974:K455N	K	+	3	2	BBX	108974623	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.606000	0.36826	1.588000	0.49971	-0.224000	0.12420	AAG		0.388	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		160	77	0	0	0	0	160	77				
BBX	56987	broad.mit.edu	37	3	107492069	107492069	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492069G>C	ENST00000325805.8	+	11	1788	c.1501G>C	c.(1501-1503)Gag>Cag	p.E501Q	BBX_ENST00000406780.1_Missense_Mutation_p.E501Q|BBX_ENST00000415149.2_Missense_Mutation_p.E501Q|BBX_ENST00000402543.1_Missense_Mutation_p.E501Q|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	501	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E501Q(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CTGGGGCATAGAGAAACTTGG	0.473																																						uc010hpr.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(3)|skin(1)	4						c.(1501-1503)GAG>CAG		HMG-BOX transcription factor BBX isoform 1							84.0	90.0	88.0					3																	107492069		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492069G>C	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1501G>C	3.37:g.107492069G>C	ENSP00000319974:p.Glu501Gln					BBX_uc003dwk.3_Missense_Mutation_p.E501Q|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.E522Q|BBX_uc003dwm.3_Missense_Mutation_p.E501Q|BBX_uc003dwo.3_5'Flank	p.E501Q	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1828	+			501			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1501G>C	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.662062	0.67700	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.94	5.94	0.96194	.	0.151921	0.64402	D	0.000014	T	0.53400	0.1794	L	0.29908	0.895	0.52501	D	0.999955	D;P;B	0.53151	0.958;0.892;0.449	P;B;B	0.48488	0.579;0.34;0.173	T	0.56341	-0.7995	10	0.87932	D	0	-10.0057	20.3523	0.98815	0.0:0.0:1.0:0.0	.	501;501;501	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	Q	501	ENSP00000408358:E501Q;ENSP00000385317:E501Q;ENSP00000319974:E501Q;ENSP00000385530:E501Q	ENSP00000319974:E501Q	E	+	1	0	BBX	108974759	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	6.877000	0.75562	2.821000	0.97095	0.484000	0.47621	GAG		0.473	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		115	72	0	0	0	0	115	72				
BBX	56987	broad.mit.edu	37	3	107492081	107492081	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492081G>C	ENST00000325805.8	+	11	1800	c.1513G>C	c.(1513-1515)Gat>Cat	p.D505H	BBX_ENST00000406780.1_Missense_Mutation_p.D505H|BBX_ENST00000415149.2_Missense_Mutation_p.D505H|BBX_ENST00000402543.1_Missense_Mutation_p.D505H|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	505	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAACTTGGAGATACCCCTCG	0.458																																						uc010hpr.2		NA																	0				ovary(3)|skin(1)	4						c.(1513-1515)GAT>CAT		HMG-BOX transcription factor BBX isoform 1							83.0	88.0	87.0					3																	107492081		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492081G>C	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1513G>C	3.37:g.107492081G>C	ENSP00000319974:p.Asp505His					BBX_uc003dwk.3_Missense_Mutation_p.D505H|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.D526H|BBX_uc003dwm.3_Missense_Mutation_p.D505H|BBX_uc003dwo.3_5'Flank	p.D505H	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1840	+			505			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1513G>C	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172666	0.38413	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.94	5.94	0.96194	.	0.239892	0.48767	D	0.000162	T	0.31513	0.0799	N	0.08118	0	0.24669	N	0.993427	B;B;B	0.33857	0.35;0.35;0.429	B;B;B	0.35899	0.143;0.143;0.213	T	0.39440	-0.9614	10	0.87932	D	0	-3.3331	13.538	0.61657	0.0709:0.0:0.9291:0.0	.	505;505;505	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	H	505	ENSP00000408358:D505H;ENSP00000385317:D505H;ENSP00000319974:D505H;ENSP00000385530:D505H	ENSP00000319974:D505H	D	+	1	0	BBX	108974771	1.000000	0.71417	0.998000	0.56505	0.568000	0.35870	7.338000	0.79269	2.821000	0.97095	0.484000	0.47621	GAT		0.458	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		110	69	0	0	0	0	110	69				
BBX	56987	broad.mit.edu	37	3	107492134	107492134	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492134G>C	ENST00000325805.8	+	11	1853	c.1566G>C	c.(1564-1566)ttG>ttC	p.L522F	BBX_ENST00000406780.1_Missense_Mutation_p.L522F|BBX_ENST00000415149.2_Missense_Mutation_p.L522F|BBX_ENST00000402543.1_Missense_Mutation_p.L522F|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	522	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAGCATTTTGGATGCCAAGC	0.468																																						uc010hpr.2		NA																	0				ovary(3)|skin(1)	4						c.(1564-1566)TTG>TTC		HMG-BOX transcription factor BBX isoform 1							74.0	76.0	75.0					3																	107492134		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492134G>C	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1566G>C	3.37:g.107492134G>C	ENSP00000319974:p.Leu522Phe					BBX_uc003dwk.3_Missense_Mutation_p.L522F|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.L543F|BBX_uc003dwm.3_Missense_Mutation_p.L522F|BBX_uc003dwo.3_5'Flank	p.L522F	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1893	+			522			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1566G>C	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809064	0.31961	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.07	5.2	0.72013	.	0.445242	0.22654	N	0.057283	T	0.45236	0.1332	N	0.17082	0.46	0.33703	D	0.614797	B;B;P	0.50617	0.002;0.011;0.937	B;B;P	0.50754	0.007;0.015;0.649	T	0.59873	-0.7372	10	0.51188	T	0.08	-1.7929	10.1809	0.42968	0.0678:0.0:0.7966:0.1356	.	522;522;522	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	F	522	ENSP00000408358:L522F;ENSP00000385317:L522F;ENSP00000319974:L522F;ENSP00000385530:L522F	ENSP00000319974:L522F	L	+	3	2	BBX	108974824	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.075000	0.57584	1.587000	0.49959	0.585000	0.79938	TTG		0.468	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		34	56	0	0	0	0	34	56				
BBX	56987	broad.mit.edu	37	3	107492169	107492169	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492169G>C	ENST00000325805.8	+	11	1888	c.1601G>C	c.(1600-1602)aGa>aCa	p.R534T	BBX_ENST00000406780.1_Missense_Mutation_p.R534T|BBX_ENST00000415149.2_Missense_Mutation_p.R534T|BBX_ENST00000402543.1_Missense_Mutation_p.R534T|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	534	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GTGAAATCAAGAGAGAAGAAA	0.438																																						uc010hpr.2		NA																	0				ovary(3)|skin(1)	4						c.(1600-1602)AGA>ACA		HMG-BOX transcription factor BBX isoform 1							78.0	77.0	77.0					3																	107492169		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492169G>C	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1601G>C	3.37:g.107492169G>C	ENSP00000319974:p.Arg534Thr					BBX_uc003dwk.3_Missense_Mutation_p.R534T|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.R555T|BBX_uc003dwm.3_Missense_Mutation_p.R534T|BBX_uc003dwo.3_5'Flank	p.R534T	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1928	+			534			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1601G>C	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144002	0.37825	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	6.07	1.78	0.24846	.	0.093067	0.64402	D	0.000001	T	0.19446	0.0467	N	0.08118	0	0.26004	N	0.98208	P;P;B	0.37914	0.611;0.611;0.145	B;B;B	0.29524	0.103;0.103;0.031	T	0.11324	-1.0592	10	0.30854	T	0.27	-7.5466	6.7061	0.23252	0.6321:0.0:0.3679:0.0	.	534;534;534	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	T	534	ENSP00000408358:R534T;ENSP00000385317:R534T;ENSP00000319974:R534T;ENSP00000385530:R534T	ENSP00000319974:R534T	R	+	2	0	BBX	108974859	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.731000	0.62022	0.445000	0.26639	0.585000	0.79938	AGA		0.438	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		7	51	0	0	0	0	7	51				
BBX	56987	broad.mit.edu	37	3	107492191	107492191	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492191G>A	ENST00000325805.8	+	11	1910	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	BBX_ENST00000406780.1_Silent_p.E541E|BBX_ENST00000415149.2_Silent_p.E541E|BBX_ENST00000402543.1_Silent_p.E541E|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	541	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGTCAAAGGAGAAATCCTCAG	0.433																																						uc010hpr.2		NA																	0				ovary(3)|skin(1)	4						c.(1621-1623)GAG>GAA		HMG-BOX transcription factor BBX isoform 1							86.0	82.0	83.0					3																	107492191		2203	4300	6503	SO:0001819	synonymous_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492191G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1623G>A	3.37:g.107492191G>A						BBX_uc003dwk.3_Silent_p.E541E|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Silent_p.E562E|BBX_uc003dwm.3_Silent_p.E541E|BBX_uc003dwo.3_5'Flank	p.E541E	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1950	+			541			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	ENST00000325805.8	37	c.1623G>A	CCDS46881.1																																																																																				0.433	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		18	51	0	0	0	0	18	51				
BBX	56987	broad.mit.edu	37	3	107492201	107492201	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492201G>A	ENST00000325805.8	+	11	1920	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	BBX_ENST00000406780.1_Missense_Mutation_p.D545N|BBX_ENST00000415149.2_Missense_Mutation_p.D545N|BBX_ENST00000402543.1_Missense_Mutation_p.D545N|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	545					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAATCCTCAGACACCACCAA	0.428																																						uc010hpr.2		NA																	0				ovary(3)|skin(1)	4						c.(1633-1635)GAC>AAC		HMG-BOX transcription factor BBX isoform 1							88.0	83.0	85.0					3																	107492201		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492201G>A	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1633G>A	3.37:g.107492201G>A	ENSP00000319974:p.Asp545Asn					BBX_uc003dwk.3_Missense_Mutation_p.D545N|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.D566N|BBX_uc003dwm.3_Missense_Mutation_p.D545N|BBX_uc003dwo.3_5'Flank	p.D545N	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1960	+			545					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1633G>A	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226131	0.39300	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	6.07	5.03	0.67393	.	0.140341	0.64402	D	0.000004	T	0.32852	0.0843	N	0.12182	0.205	0.35834	D	0.825548	B;B;B	0.17268	0.009;0.016;0.021	B;B;B	0.14578	0.004;0.01;0.011	T	0.34329	-0.9833	10	0.56958	D	0.05	-14.18	16.2749	0.82640	0.073:0.0:0.927:0.0	.	545;545;545	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	N	545	ENSP00000408358:D545N;ENSP00000385317:D545N;ENSP00000319974:D545N;ENSP00000385530:D545N	ENSP00000319974:D545N	D	+	1	0	BBX	108974891	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	3.742000	0.55097	2.890000	0.99128	0.585000	0.79938	GAC		0.428	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		20	54	0	0	0	0	20	54				
BOC	91653	broad.mit.edu	37	3	112968688	112968688	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:112968688G>T	ENST00000495514.1	+	3	743	c.39G>T	c.(37-39)agG>agT	p.R13S	BOC_ENST00000273395.4_Missense_Mutation_p.R13S|BOC_ENST00000484034.1_Missense_Mutation_p.R13S|BOC_ENST00000485230.1_Missense_Mutation_p.R13S|BOC_ENST00000355385.3_Missense_Mutation_p.R13S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	13					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GAGGAATGAGGCCTGAGGTCA	0.552																																						uc003dzx.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(37-39)AGG>AGT		brother of CDO precursor							179.0	119.0	139.0					3																	112968688		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112968688G>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.39G>T	3.37:g.112968688G>T	ENSP00000418663:p.Arg13Ser					BOC_uc010hqi.2_Missense_Mutation_p.R13S|BOC_uc003dzy.2_Missense_Mutation_p.R13S|BOC_uc003dzz.2_Missense_Mutation_p.R13S|BOC_uc003dzw.1_Missense_Mutation_p.R13S|BOC_uc003eaa.1_Missense_Mutation_p.R13S	p.R13S	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		3	660	+			13					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.39G>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	g	10.73	1.432555	0.25813	.	.	ENSG00000144857	ENST00000464546;ENST00000495514;ENST00000485230;ENST00000462425;ENST00000273395;ENST00000355385;ENST00000494687;ENST00000484034	D;T;T;T;T;T	0.85484	-1.99;0.17;0.42;0.18;0.17;0.42	5.29	3.35	0.38373	.	0.292767	0.36854	N	0.002375	T	0.71953	0.3401	L	0.29908	0.895	0.09310	N	1	P;B;B;B	0.38078	0.617;0.034;0.02;0.335	B;B;B;B	0.30855	0.121;0.053;0.024;0.086	T	0.67003	-0.5780	10	0.62326	D	0.03	.	7.4155	0.27042	0.2882:0.0:0.7118:0.0	.	13;13;13;13	C9J2L7;Q9BWV1-3;Q9BWV1;Q96DN7	.;.;BOC_HUMAN;.	S	13	ENSP00000417362:R13S;ENSP00000418663:R13S;ENSP00000420154:R13S;ENSP00000273395:R13S;ENSP00000347546:R13S;ENSP00000417337:R13S	ENSP00000273395:R13S	R	+	3	2	BOC	114451378	0.933000	0.31639	0.014000	0.15608	0.248000	0.25809	1.738000	0.38207	1.468000	0.48064	0.645000	0.84053	AGG		0.552	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		16	126	1	0	3.62e-10	3.9e-10	16	126				
SPICE1	152185	broad.mit.edu	37	3	113187686	113187686	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:113187686G>C	ENST00000295872.4	-	9	1071	c.812C>G	c.(811-813)tCt>tGt	p.S271C		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	271					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AGTCTCAGTAGATTCTTCAGG	0.418																																						uc003eag.3		NA																	0					0						c.(811-813)TCT>TGT		coiled-coil domain containing 52							100.0	89.0	93.0					3																	113187686		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113187686G>C	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.812C>G	3.37:g.113187686G>C	ENSP00000295872:p.Ser271Cys					CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.S167C	p.S271C	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			9	1103	-			271					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.812C>G	CCDS2973.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.544|9.544	1.114263|1.114263	0.20795|0.20795	.|.	.|.	ENSG00000163611|ENSG00000163611	ENST00000467618|ENST00000295872	.|T	.|0.33438	.|1.41	5.05|5.05	4.16|4.16	0.48862|0.48862	.|.	.|0.908575	.|0.09607	.|N	.|0.779529	T|T	0.39886|0.39886	0.1095|0.1095	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|P;P	.|0.48407	.|0.91;0.8	.|P;B	.|0.47376	.|0.545;0.421	T|T	0.21759|0.21759	-1.0236|-1.0236	5|10	.|0.59425	.|D	.|0.04	-0.017|-0.017	11.7113|11.7113	0.51626|0.51626	0.0:0.1788:0.8212:0.0|0.0:0.1788:0.8212:0.0	.|.	.|167;271	.|B3KX77;Q8N0Z3	.|.;SPICE_HUMAN	V|C	83|271	.|ENSP00000295872:S271C	.|ENSP00000295872:S271C	L|S	-|-	1|2	2|0	SPICE1|SPICE1	114670376|114670376	0.386000|0.386000	0.25180|0.25180	0.007000|0.007000	0.13788|0.13788	0.010000|0.010000	0.07245|0.07245	2.863000|2.863000	0.48396|0.48396	1.231000|1.231000	0.43661|0.43661	-0.282000|-0.282000	0.10007|0.10007	CTA|TCT		0.418	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		25	162	0	0	0	0	25	162				
KIAA1407	57577	broad.mit.edu	37	3	113724682	113724682	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:113724682G>A	ENST00000295878.3	-	10	1687	c.1541C>T	c.(1540-1542)gCa>gTa	p.A514V	KIAA1407_ENST00000545063.1_Missense_Mutation_p.A345V	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	514										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATTGCCAGGTGCACTCAGAGA	0.542																																						uc003eax.2		NA																	0				ovary(2)	2						c.(1540-1542)GCA>GTA		hypothetical protein LOC57577							162.0	162.0	162.0					3																	113724682		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113724682G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1541C>T	3.37:g.113724682G>A	ENSP00000295878:p.Ala514Val					KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.A492V|KIAA1407_uc011bip.1_Missense_Mutation_p.A501V	p.A514V	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			10	1688	-			514					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1541C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	9.969	1.225006	0.22457	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.46063	1.48;0.88;0.9	5.23	1.42	0.22433	.	0.859728	0.10701	N	0.644061	T	0.30103	0.0754	L	0.29908	0.895	0.09310	N	1	B;B;B	0.16396	0.01;0.017;0.017	B;B;B	0.13407	0.009;0.009;0.009	T	0.22382	-1.0218	10	0.37606	T	0.19	.	9.5939	0.39563	0.3007:0.0:0.6993:0.0	.	501;390;514	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	V	514;345;501	ENSP00000295878:A514V;ENSP00000446381:A345V;ENSP00000418099:A501V	ENSP00000295878:A514V	A	-	2	0	KIAA1407	115207372	0.041000	0.20044	0.000000	0.03702	0.002000	0.02628	1.446000	0.35090	0.373000	0.24621	0.655000	0.94253	GCA		0.542	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		39	566	0	0	0	0	39	566				
ZBTB20	26137	broad.mit.edu	37	3	114069347	114069347	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:114069347G>A	ENST00000474710.1	-	4	1756	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.F453F|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Silent_p.F453F|ZBTB20_ENST00000357258.3_Silent_p.F453F|ZBTB20_ENST00000393785.2_Silent_p.F453F|ZBTB20_ENST00000464560.1_Silent_p.F453F|ZBTB20_ENST00000462705.1_Silent_p.F453F	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	526						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGGCAGGCTGAAGAGGAAAG	0.642																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2		NA																	0				ovary(4)|skin(1)	5						c.(1576-1578)TTC>TTT		zinc finger and BTB domain containing 20 isoform							46.0	51.0	49.0					3																	114069347		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114069347G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1578C>T	3.37:g.114069347G>A						ZBTB20_uc003ebj.2_Silent_p.F453F|ZBTB20_uc010hqp.2_Silent_p.F453F|ZBTB20_uc003ebk.2_Silent_p.F453F|ZBTB20_uc003ebl.2_Silent_p.F453F|ZBTB20_uc003ebm.2_Silent_p.F453F|ZBTB20_uc003ebn.2_Silent_p.F453F|uc003ebo.1_5'Flank	p.F526F	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	1758	-			526					Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.1578C>T	CCDS54626.1																																																																																				0.642	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		32	170	0	0	0	0	32	170				
ZBTB20	26137	broad.mit.edu	37	3	114070078	114070078	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:114070078C>T	ENST00000474710.1	-	4	1025	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.E210K|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.E210K|ZBTB20_ENST00000357258.3_Missense_Mutation_p.E210K|ZBTB20_ENST00000393785.2_Missense_Mutation_p.E210K|ZBTB20_ENST00000464560.1_Missense_Mutation_p.E210K|ZBTB20_ENST00000462705.1_Missense_Mutation_p.E210K	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	283						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGGGGTCTTCCATGTGGTGG	0.662																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2		NA																	0				ovary(4)|skin(1)	5						c.(847-849)GAA>AAA		zinc finger and BTB domain containing 20 isoform							49.0	50.0	50.0					3																	114070078		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070078C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.847G>A	3.37:g.114070078C>T	ENSP00000419153:p.Glu283Lys					ZBTB20_uc003ebj.2_Missense_Mutation_p.E210K|ZBTB20_uc010hqp.2_Missense_Mutation_p.E210K|ZBTB20_uc003ebk.2_Missense_Mutation_p.E210K|ZBTB20_uc003ebl.2_Missense_Mutation_p.E210K|ZBTB20_uc003ebm.2_Missense_Mutation_p.E210K|ZBTB20_uc003ebn.2_Missense_Mutation_p.E210K|uc003ebo.1_5'Flank	p.E283K	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	1027	-			283					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.847G>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075223	0.76415	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.11604	2.81;2.81;2.81;2.81;2.76;2.81;2.81	5.52	5.52	0.82312	.	0.054602	0.85682	D	0.000000	T	0.09158	0.0226	N	0.19112	0.55	0.54753	D	0.999986	P	0.34977	0.478	B	0.28553	0.091	T	0.15407	-1.0438	10	0.87932	D	0	.	19.6361	0.95733	0.0:1.0:0.0:0.0	.	283	Q9HC78	ZBT20_HUMAN	K	210;210;210;210;283;210;210	ENSP00000420324:E210K;ENSP00000377375:E210K;ENSP00000418092:E210K;ENSP00000419902:E210K;ENSP00000419153:E283K;ENSP00000349803:E210K;ENSP00000417307:E210K	ENSP00000349803:E210K	E	-	1	0	ZBTB20	115552768	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.997000	0.70646	2.878000	0.98634	0.650000	0.86243	GAA		0.662	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		6	208	0	0	0	0	6	208				
LSAMP	4045	broad.mit.edu	37	3	115561400	115561400	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:115561400C>G	ENST00000490035.2	-	5	1174	c.675G>C	c.(673-675)aaG>aaC	p.K225N	LSAMP_ENST00000539563.1_Missense_Mutation_p.K222N|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	225	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTTCATTGCTCTTGGATTCTG	0.498																																						uc003ebt.2		NA																	0					0						c.(673-675)AAG>AAC		limbic system-associated membrane protein							211.0	176.0	187.0					3																	115561400		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115561400C>G	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.675G>C	3.37:g.115561400C>G	ENSP00000419000:p.Lys225Asn					LSAMP_uc011bis.1_Missense_Mutation_p.K225N	p.K225N	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	5	1175	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	225			Ig-like C2-type 3.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.675G>C	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041804	0.55003	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.69685	-0.42;-0.42;-0.42	5.7	4.83	0.62350	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.151761	0.64402	D	0.000012	T	0.66665	0.2812	M	0.64080	1.96	0.53688	D	0.99997	B;B	0.23990	0.002;0.095	B;B	0.30105	0.011;0.111	T	0.66870	-0.5814	10	0.66056	D	0.02	-13.5385	14.2363	0.65929	0.0:0.9293:0.0:0.0707	.	225;225	B2RCU8;Q13449	.;LSAMP_HUMAN	N	209;225;222	ENSP00000328455:K209N;ENSP00000419000:K225N;ENSP00000443429:K222N	ENSP00000328455:K209N	K	-	3	2	LSAMP	117044090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.652000	0.54439	1.425000	0.47237	0.650000	0.86243	AAG		0.498	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		19	122	0	0	0	0	19	122				
GOLGB1	2804	broad.mit.edu	37	3	121395796	121395796	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:121395796C>G	ENST00000340645.5	-	17	9231	c.9106G>C	c.(9106-9108)Gac>Cac	p.D3036H	GOLGB1_ENST00000393667.3_Missense_Mutation_p.D3041H	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3036					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTAAGCTGTCATTGAGCTGG	0.423																																						uc003eei.3		NA																	0				ovary(6)|breast(2)|skin(2)	10						c.(9106-9108)GAC>CAC		golgi autoantigen, golgin subfamily b,							146.0	138.0	140.0					3																	121395796		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121395796C>G	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9106G>C	3.37:g.121395796C>G	ENSP00000341848:p.Asp3036His					GOLGB1_uc010hrc.2_Missense_Mutation_p.D3041H|GOLGB1_uc003eej.3_Missense_Mutation_p.D3002H	p.D3036H	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	17	9232	-			3036			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.9106G>C	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471394	0.63737	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.15718	2.4;2.4	5.36	3.58	0.41010	.	0.099447	0.43919	D	0.000510	T	0.22282	0.0537	N	0.17082	0.46	0.36835	D	0.887108	D;D;D	0.89917	1.0;1.0;0.984	D;D;P	0.91635	0.999;0.999;0.79	T	0.14117	-1.0484	10	0.59425	D	0.04	.	7.9273	0.29883	0.0:0.817:0.0:0.183	.	3041;3041;3036	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	H	3036;3041	ENSP00000341848:D3036H;ENSP00000377275:D3041H	ENSP00000341848:D3036H	D	-	1	0	GOLGB1	122878486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.003000	0.40844	0.827000	0.34685	0.655000	0.94253	GAC		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		14	217	0	0	0	0	14	217				
KALRN	8997	broad.mit.edu	37	3	124376308	124376308	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:124376308G>C	ENST00000291478.5	+	7	945	c.782G>C	c.(781-783)aGa>aCa	p.R261T	KALRN_ENST00000428018.2_Missense_Mutation_p.R229T|KALRN_ENST00000459915.1_Missense_Mutation_p.R50T|KALRN_ENST00000360013.3_Missense_Mutation_p.R1958T|KALRN_ENST00000393496.1_Missense_Mutation_p.R299T	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1957					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTCATGAAGAGAATAGAAGAA	0.453																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(5872-5874)AGA>ACA		kalirin, RhoGEF kinase isoform 1							108.0	97.0	101.0					3																	124376308		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124376308G>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.782G>C	3.37:g.124376308G>C	ENSP00000291478:p.Arg261Thr					KALRN_uc003ehi.2_Missense_Mutation_p.R299T|KALRN_uc003ehk.2_Missense_Mutation_p.R261T|KALRN_uc011bjz.1_Missense_Mutation_p.R50T	p.R1958T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			40	6000	+			1957			DH 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.5873G>C	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.62|11.62	1.692222|1.692222	0.30052|0.30052	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	.|T;T;T;T;T	.|0.63255	.|-0.03;-0.03;-0.03;-0.03;-0.03	5.08|5.08	5.08|5.08	0.68730|0.68730	.|Dbl homology (DH) domain (5);	.|0.056656	.|0.64402	.|D	.|0.000002	T|T	0.57080|0.57080	0.2029|0.2029	N|N	0.05158|0.05158	-0.105|-0.105	0.35630|0.35630	D|D	0.810127|0.810127	.|B;D;D;B	.|0.69078	.|0.022;0.997;0.994;0.0	.|B;D;P;B	.|0.66602	.|0.017;0.945;0.9;0.006	T|T	0.62483|0.62483	-0.6845|-0.6845	5|10	.|0.22109	.|T	.|0.4	.|.	14.3013|14.3013	0.66355|0.66355	0.0:0.1483:0.8517:0.0|0.0:0.1483:0.8517:0.0	.|.	.|50;261;299;1957	.|E7EUZ8;C9JQ37;O60229-5;O60229	.|.;.;.;KALRN_HUMAN	Q|T	1927|1958;299;261;229;50	.|ENSP00000353109:R1958T;ENSP00000377134:R299T;ENSP00000291478:R261T;ENSP00000402419:R229T;ENSP00000420318:R50T	.|ENSP00000291478:R261T	E|R	+|+	1|2	0|0	KALRN|KALRN	125858998|125858998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.893000|2.893000	0.48633|0.48633	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.453	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		4	129	0	0	0	0	4	129				
COL6A6	131873	broad.mit.edu	37	3	130361868	130361868	+	Splice_Site	SNP	G	G	A	rs373916516		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:130361868G>A	ENST00000358511.6	+	30	5258		c.e30+1		COL6A6_ENST00000453409.2_Splice_Site	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6						cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GACCGCAGTCGTAAGTACCCT	0.393																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.e30+1		collagen type VI alpha 6 precursor		G		0,3756		0,0,1878	103.0	90.0	94.0			5.7	1.0	3		94	1,8209		0,1,4104	no	splice-5	COL6A6	NM_001102608.1		0,1,5982	AA,AG,GG		0.0122,0.0,0.0084			130361868	1,11965	1878	4105	5983	SO:0001630	splice_region_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130361868G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5227+1G>A	3.37:g.130361868G>A						COL6A6_uc003eni.3_Splice_Site_p.V6_splice	p.P1743_splice	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			30	5258	+								A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Splice_Site	SNP	ENST00000358511.6	37	c.5227_splice	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413440	0.83449	0.0	1.22E-4	ENSG00000206384	ENST00000358511;ENST00000453409	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5359	0.87830	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL6A6	131844558	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	6.403000	0.73264	2.666000	0.90696	0.561000	0.74099	.		0.393	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	Intron	13	80	0	0	0	0	13	80				
SOX14	8403	broad.mit.edu	37	3	137484129	137484129	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:137484129C>T	ENST00000306087.1	+	1	551	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	168					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CCCTACGCGTCCACCCTGGGC	0.687																																						uc003erm.1		NA																	0					0						c.(502-504)TCC>TTC		SRY-box 14							15.0	14.0	15.0					3																	137484129		2190	4283	6473	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484129C>T	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.503C>T	3.37:g.137484129C>T	ENSP00000305343:p.Ser168Phe						p.S168F	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	551	+			168					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.503C>T	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971303	0.74246	.	.	ENSG00000168875	ENST00000306087	D	0.96885	-4.16	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.95912	0.8669	L	0.42245	1.32	0.80722	D	1	D	0.56968	0.978	P	0.56216	0.794	D	0.94234	0.7479	10	0.18276	T	0.48	.	17.5355	0.87829	0.0:1.0:0.0:0.0	.	168	O95416	SOX14_HUMAN	F	168	ENSP00000305343:S168F	ENSP00000305343:S168F	S	+	2	0	SOX14	138966819	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.602000	0.61098	2.379000	0.81126	0.407000	0.27541	TCC		0.687	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		9	11	0	0	0	0	9	11				
DBR1	51163	broad.mit.edu	37	3	137885942	137885942	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:137885942G>A	ENST00000260803.4	-	5	848	c.695C>T	c.(694-696)gCc>gTc	p.A232V	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	232					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CATCAAGGCGGCAAACTTCAC	0.393																																						uc003erv.2		NA																	0					0						c.(694-696)GCC>GTC		debranching enzyme homolog 1							85.0	79.0	81.0					3																	137885942		2203	4300	6503	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137885942G>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.695C>T	3.37:g.137885942G>A	ENSP00000260803:p.Ala232Val					DBR1_uc003eru.2_Missense_Mutation_p.A181V|DBR1_uc003ert.2_5'Flank	p.A232V	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			5	831	-			232					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.695C>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079363	0.76528	.	.	ENSG00000138231	ENST00000260803	T	0.42131	0.98	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	M	0.77313	2.365	0.80722	D	1	P	0.46512	0.879	P	0.45881	0.496	T	0.59762	-0.7393	10	0.59425	D	0.04	-1.8686	16.8747	0.86048	0.0:0.0:1.0:0.0	.	232	Q9UK59	DBR1_HUMAN	V	232	ENSP00000260803:A232V	ENSP00000260803:A232V	A	-	2	0	DBR1	139368632	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.578000	0.87016	0.655000	0.94253	GCC		0.393	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			5	230	0	0	0	0	5	230				
BCHE	590	broad.mit.edu	37	3	165547864	165547864	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:165547864G>C	ENST00000264381.3	-	2	1124	c.958C>G	c.(958-960)Ccg>Gcg	p.P320A	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	320					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TCCACGGTCGGACCAAAGTTT	0.373																																						uc003fem.3		NA																	0				ovary(3)|pancreas(1)	4						c.(958-960)CCG>GCG		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						39.0	42.0	41.0					3																	165547864		2201	4297	6498	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547864G>C	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.958C>G	3.37:g.165547864G>C	ENSP00000264381:p.Pro320Ala					BCHE_uc003fen.3_Intron	p.P320A	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	1118	-			320					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.958C>G	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321751	0.41096	.	.	ENSG00000114200	ENST00000264381	T	0.77877	-1.13	5.42	5.42	0.78866	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.89097	0.6618	M	0.86864	2.845	0.80722	D	1	D	0.67145	0.996	D	0.63957	0.92	D	0.90854	0.4733	10	0.87932	D	0	.	18.1948	0.89818	0.0:0.0:1.0:0.0	.	320	P06276	CHLE_HUMAN	A	320	ENSP00000264381:P320A	ENSP00000264381:P320A	P	-	1	0	BCHE	167030558	1.000000	0.71417	0.887000	0.34795	0.011000	0.07611	8.962000	0.93254	2.546000	0.85860	0.655000	0.94253	CCG		0.373	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			22	171	0	0	0	0	22	171				
PLD1	5337	broad.mit.edu	37	3	171431715	171431715	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:171431715C>G	ENST00000351298.4	-	9	1005	c.879G>C	c.(877-879)acG>acC	p.T293T	PLD1_ENST00000342215.6_Silent_p.T293T|PLD1_ENST00000356327.5_Silent_p.T293T|PLD1_ENST00000340989.4_Silent_p.T293T	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	293	PH.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.T293T(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTCCATATTTCGTTTCTGTCT	0.338																																					NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|lung(1)	3						c.(877-879)ACG>ACC		phospholipase D1 isoform a	Choline(DB00122)						150.0	154.0	152.0					3																	171431715		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171431715C>G	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.879G>C	3.37:g.171431715C>G						PLD1_uc003fht.2_Silent_p.T293T	p.T293T	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		9	995	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		293			PH.			Silent	SNP	ENST00000351298.4	37	c.879G>C	CCDS3216.1																																																																																				0.338	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		215	145	0	0	0	0	215	145				
NLGN1	22871	broad.mit.edu	37	3	173322762	173322762	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:173322762G>C	ENST00000457714.1	+	3	803	c.374G>C	c.(373-375)aGa>aCa	p.R125T	NLGN1_ENST00000361589.4_Missense_Mutation_p.R125T|NLGN1_ENST00000401917.3_Missense_Mutation_p.R125T|NLGN1_ENST00000545397.1_Missense_Mutation_p.R125T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	125					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATTGATGGCAGATTGCCAGAA	0.433																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(373-375)AGA>ACA		neuroligin 1							172.0	166.0	168.0					3																	173322762		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322762G>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.374G>C	3.37:g.173322762G>C	ENSP00000392500:p.Arg125Thr					NLGN1_uc010hww.1_Missense_Mutation_p.R125T|NLGN1_uc003fip.1_Missense_Mutation_p.R125T	p.R125T	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	797	+	Ovarian(172;0.0025)		125			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.374G>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	6.543	0.468487	0.12461	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.51126	0.1656	L	0.28014	0.82	0.46586	D	0.999119	B;B	0.09022	0.001;0.002	B;B	0.17098	0.017;0.007	T	0.45454	-0.9260	10	0.11794	T	0.64	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	125;125	D2X2H5;Q8N2Q7-2	.;.	T	125	ENSP00000392500:R125T;ENSP00000354541:R125T;ENSP00000410374:R125T;ENSP00000441108:R125T;ENSP00000385750:R125T	ENSP00000354541:R125T	R	+	2	0	NLGN1	174805456	1.000000	0.71417	0.992000	0.48379	0.886000	0.51366	9.420000	0.97426	2.809000	0.96659	0.467000	0.42956	AGA		0.433	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		26	542	0	0	0	0	26	542				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			102	64	0	0	0	0	102	64				
BCL6	604	broad.mit.edu	37	3	187447044	187447044	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:187447044G>A	ENST00000406870.2	-	5	1515	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	BCL6_ENST00000450123.2_Silent_p.L383L|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Silent_p.L383L|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	383					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGAGGCTGTTGAGCACGATGA	0.607			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3		NA		Dom	yes		3	3q27	604	T|Mis	B-cell CLL/lymphoma 6			L	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3		NHL|CLL		0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(1147-1149)CTC>CTT		B-cell lymphoma 6 protein isoform 1							172.0	183.0	179.0					3																	187447044		2203	4300	6503	SO:0001819	synonymous_variant	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447044G>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1149C>T	3.37:g.187447044G>A						BCL6_uc011bsf.1_Silent_p.L383L|BCL6_uc010hza.2_Silent_p.L281L|BCL6_uc003frq.1_Silent_p.L383L	p.L383L	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1606	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		383					A7E241|B8PSA7|D3DNV5	Silent	SNP	ENST00000406870.2	37	c.1149C>T	CCDS3289.1																																																																																				0.607	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		22	857	0	0	0	0	22	857				
TFRC	7037	broad.mit.edu	37	3	195782122	195782122	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:195782122C>G	ENST00000360110.4	-	17	1897	c.1728G>C	c.(1726-1728)ctG>ctC	p.L576L	TFRC_ENST00000392396.3_Silent_p.L576L|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Silent_p.L294L|TFRC_ENST00000420415.1_Silent_p.L495L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	576	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TCCTCTCAATCAGTTCCTTAT	0.468			T	BCL6	NHL																																	uc003fvz.3		NA		Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				ovary(3)	3						c.(1726-1728)CTG>CTC		transferrin receptor							133.0	123.0	126.0					3																	195782122		2203	4300	6503	SO:0001819	synonymous_variant	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195782122C>G	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1728G>C	3.37:g.195782122C>G						TFRC_uc003fwa.3_Silent_p.L576L|TFRC_uc010hzy.2_Silent_p.L495L|TFRC_uc011btr.1_Silent_p.L294L	p.L576L	NM_003234	NP_003225	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	17	2011	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		576			Extracellular (Potential).|Ligand-binding.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	ENST00000360110.4	37	c.1728G>C	CCDS3312.1																																																																																				0.468	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			40	312	0	0	0	0	40	312				
LMLN	89782	broad.mit.edu	37	3	197712706	197712706	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:197712706G>C	ENST00000330198.4	+	8	896	c.874G>C	c.(874-876)Gat>Cat	p.D292H	LMLN_ENST00000482695.1_Missense_Mutation_p.D240H|LMLN_ENST00000332636.5_Missense_Mutation_p.D240H|LMLN_ENST00000420910.2_Missense_Mutation_p.D292H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	292					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CCATGATAAAGATGGAAATCC	0.403																																						uc011buo.1		NA																	0				skin(1)	1						c.(874-876)GAT>CAT		leishmanolysin-like isoform 2							129.0	122.0	125.0					3																	197712706		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197712706G>C	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.874G>C	3.37:g.197712706G>C	ENSP00000328829:p.Asp292His					LMLN_uc003fyt.2_Missense_Mutation_p.D240H|LMLN_uc010iar.2_Missense_Mutation_p.D292H|LMLN_uc010ias.2_Missense_Mutation_p.D240H|LMLN_uc003fyu.2_Missense_Mutation_p.D52H	p.D292H	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	8	896	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	292					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.874G>C	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526162	0.64860	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.51071	0.77;0.72;0.76;0.76	4.24	4.24	0.50183	.	0.115474	0.64402	D	0.000015	T	0.63593	0.2524	M	0.65975	2.015	0.48571	D	0.999677	D;D;D;D;D	0.76494	0.997;0.987;0.998;0.999;0.997	D;D;D;D;D	0.70935	0.971;0.935;0.943;0.971;0.951	T	0.65717	-0.6100	10	0.54805	T	0.06	-24.2646	12.0571	0.53542	0.0:0.0:1.0:0.0	.	292;240;292;284;240	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	H	240;292;292;240	ENSP00000418324:D240H;ENSP00000328829:D292H;ENSP00000410926:D292H;ENSP00000328611:D240H	ENSP00000328829:D292H	D	+	1	0	LMLN	199197103	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	6.951000	0.75983	2.201000	0.70794	0.298000	0.19748	GAT		0.403	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		26	278	0	0	0	0	26	278				
RGS12	6002	broad.mit.edu	37	4	3441262	3441262	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:3441262C>T	ENST00000344733.5	+	18	5099	c.4195C>T	c.(4195-4197)Cgg>Tgg	p.R1399W	HGFAC_ENST00000511533.1_5'Flank|HGFAC_ENST00000382774.3_5'Flank|RGS12_ENST00000338806.4_Missense_Mutation_p.R751W	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1399					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCGCCCGGGCGGGATGGTGG	0.647																																						uc003ggw.2		NA																	0				skin(1)	1						c.(4195-4197)CGG>TGG		regulator of G-protein signalling 12 isoform 1							43.0	44.0	44.0					4																	3441262		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3441262C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4195C>T	4.37:g.3441262C>T	ENSP00000339381:p.Arg1399Trp					RGS12_uc003ggz.2_Missense_Mutation_p.R751W|RGS12_uc003gha.2_Missense_Mutation_p.R741W|RGS12_uc010icv.2_Missense_Mutation_p.R598W|HGFAC_uc003ghc.2_5'Flank|HGFAC_uc010icw.2_5'Flank	p.R1399W	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	18	5099	+			1399					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.4195C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	c	9.741	1.164824	0.21538	.	.	ENSG00000159788	ENST00000344733;ENST00000338806	T;T	0.34472	1.65;1.36	2.45	0.645	0.17782	.	2.549330	0.03306	N	0.189826	T	0.18002	0.0432	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.20273	-1.0280	10	0.52906	T	0.07	-0.0908	4.307	0.10951	0.0:0.6397:0.0:0.3603	.	741;751;1399	O14924-2;O14924-3;O14924	.;.;RGS12_HUMAN	W	1399;751	ENSP00000339381:R1399W;ENSP00000342133:R751W	ENSP00000342133:R751W	R	+	1	2	RGS12	3411060	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.445000	0.21677	0.134000	0.18681	-0.355000	0.07637	CGG		0.647	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		21	32	0	0	0	0	21	32				
SDAD1	55153	broad.mit.edu	37	4	76886972	76886972	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:76886972A>G	ENST00000356260.5	-	13	1167	c.1049T>C	c.(1048-1050)gTa>gCa	p.V350A	SDAD1_ENST00000395711.4_Missense_Mutation_p.V313A|SDAD1_ENST00000513089.1_5'UTR	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	350					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATCTTGGTTACTTCTGAAAA	0.473																																						uc003hje.3		NA																	0				ovary(1)	1						c.(1048-1050)GTA>GCA		SDA1 domain containing 1							155.0	142.0	147.0					4																	76886972		2203	4300	6503	SO:0001583	missense	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76886972A>G	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1049T>C	4.37:g.76886972A>G	ENSP00000348596:p.Val350Ala					SDAD1_uc003hjf.3_Missense_Mutation_p.V253A|SDAD1_uc011cbr.1_Missense_Mutation_p.V313A	p.V350A	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		13	1168	-			350					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	c.1049T>C	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.091524	0.76756	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.73897	-0.79;-0.79	5.19	4.0	0.46444	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86260	0.5890	M	0.88450	2.955	0.58432	D	0.99999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.973	D	0.86401	0.1742	10	0.54805	T	0.06	-17.3415	9.4229	0.38561	0.9157:0.0:0.0843:0.0	.	313;350	E7EW05;Q9NVU7	.;SDA1_HUMAN	A	350;313	ENSP00000348596:V350A;ENSP00000379061:V313A	ENSP00000348596:V350A	V	-	2	0	SDAD1	77105996	1.000000	0.71417	0.975000	0.42487	0.887000	0.51463	7.017000	0.76399	1.097000	0.41459	0.528000	0.53228	GTA		0.473	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		37	108	0	0	0	0	37	108				
PTPN13	5783	broad.mit.edu	37	4	87705639	87705639	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:87705639G>A	ENST00000411767.2	+	38	6109	c.6046G>A	c.(6046-6048)Gaa>Aaa	p.E2016K	PTPN13_ENST00000511467.1_Missense_Mutation_p.E2021K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1825K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E1997K|PTPN13_ENST00000436978.1_Missense_Mutation_p.E2021K			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2016					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGAAATAAATGAAATATCGTA	0.378																																						uc003hpz.2		NA																	0				ovary(4)|breast(1)|kidney(1)	6						c.(6046-6048)GAA>AAA		protein tyrosine phosphatase, non-receptor type							129.0	123.0	125.0					4																	87705639		1853	4087	5940	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87705639G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6046G>A	4.37:g.87705639G>A	ENSP00000407249:p.Glu2016Lys					PTPN13_uc003hpy.2_Missense_Mutation_p.E2021K|PTPN13_uc003hqa.2_Missense_Mutation_p.E1997K|PTPN13_uc003hqb.2_Missense_Mutation_p.E1825K|PTPN13_uc003hqc.1_Missense_Mutation_p.E382K	p.E2016K	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	38	6526	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2016					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.6046G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	2.003	-0.428950	0.04701	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.51071	0.73;0.75;0.82;0.72;0.75	5.12	5.12	0.69794	.	0.397978	0.21360	N	0.075814	T	0.40094	0.1103	N	0.17082	0.46	0.28210	N	0.926959	P;B;B;B	0.44139	0.827;0.002;0.001;0.002	P;B;B;B	0.46543	0.52;0.003;0.001;0.004	T	0.34153	-0.9840	10	0.46703	T	0.11	.	14.4129	0.67128	0.0:0.0:1.0:0.0	.	1825;1997;2016;2021	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	K	1997;2021;1825;2016;2021;1965	ENSP00000408368:E1997K;ENSP00000394794:E2021K;ENSP00000322675:E1825K;ENSP00000407249:E2016K;ENSP00000426626:E2021K	ENSP00000322675:E1825K	E	+	1	0	PTPN13	87924663	0.999000	0.42202	0.129000	0.21949	0.019000	0.09904	3.367000	0.52350	2.527000	0.85204	0.563000	0.77884	GAA		0.378	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			4	37	0	0	0	0	4	37				
SPATA5	166378	broad.mit.edu	37	4	123855341	123855341	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:123855341G>A	ENST00000274008.4	+	5	664	c.595G>A	c.(595-597)Gat>Aat	p.D199N	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	199					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAAAGGGGCAGATGGCATGAT	0.468																																						uc003iez.3		NA																	0					0						c.(595-597)GAT>AAT		spermatogenesis associated 5							96.0	91.0	93.0					4																	123855341		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123855341G>A	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.595G>A	4.37:g.123855341G>A	ENSP00000274008:p.Asp199Asn					SPATA5_uc003iey.2_Missense_Mutation_p.D198N	p.D199N	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			5	668	+			199					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.595G>A	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085307	0.94100	.	.	ENSG00000145375	ENST00000274008	D	0.95690	-3.78	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.97247	0.9100	L	0.59436	1.845	0.58432	D	0.999994	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.974	D	0.97633	1.0143	10	0.87932	D	0	-18.691	19.6609	0.95871	0.0:0.0:1.0:0.0	.	199;199	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	N	199	ENSP00000274008:D199N	ENSP00000274008:D199N	D	+	1	0	SPATA5	124074791	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	7.763000	0.85283	2.736000	0.93811	0.655000	0.94253	GAT		0.468	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		6	124	0	0	0	0	6	124				
SLC10A7	84068	broad.mit.edu	37	4	147431156	147431156	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:147431156G>T	ENST00000507030.1	-	3	228	c.229C>A	c.(229-231)Cag>Aag	p.Q77K	SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000432059.2_Missense_Mutation_p.Q77K|SLC10A7_ENST00000394059.4_Missense_Mutation_p.Q77K|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000394062.3_Missense_Mutation_p.Q77K|SLC10A7_ENST00000335472.7_Missense_Mutation_p.Q77K|SLC10A7_ENST00000511374.1_Intron			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	77					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GTAAAGATCTGAATAAAAAGA	0.353																																						uc010ioz.2		NA																	0					0						c.(229-231)CAG>AAG		solute carrier family 10 (sodium/bile acid							82.0	84.0	83.0					4																	147431156		2203	4300	6503	SO:0001583	missense	84068					integral to membrane	bile acid:sodium symporter activity	g.chr4:147431156G>T	AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"""Solute carriers"""	23088	protein-coding gene	gene with protein product		611459	"""chromosome 4 open reading frame 13"""	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.229C>A	4.37:g.147431156G>T	ENSP00000421275:p.Gln77Lys					SLC10A7_uc003ikr.2_Missense_Mutation_p.Q77K|SLC10A7_uc010ipa.2_Missense_Mutation_p.Q77K|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.Q77K	p.Q77K	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN			3	483	-	all_hematologic(180;0.151)		77			Helical; (Potential).		A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	ENST00000507030.1	37	c.229C>A	CCDS34073.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747941	0.89663	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062;ENST00000394059	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.86163	0.5867	M	0.92691	3.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.99;0.993;0.993	D	0.88798	0.3283	9	0.66056	D	0.02	-12.0703	17.8694	0.88807	0.0:0.0:1.0:0.0	.	77;77;77;77	Q0GE19-3;Q0GE19;Q0GE19-5;Q0GE19-2	.;NTCP7_HUMAN;.;.	K	77	.	ENSP00000334594:Q77K	Q	-	1	0	SLC10A7	147650606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.396000	0.90190	2.729000	0.93468	0.655000	0.94253	CAG		0.353	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366932.1	NM_032128		29	50	1	0	1.31e-18	1.45e-18	29	50				
ARFIP1	27236	broad.mit.edu	37	4	153784795	153784795	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:153784795C>T	ENST00000451320.2	+	3	295	c.131C>T	c.(130-132)tCa>tTa	p.S44L	ARFIP1_ENST00000353617.2_Missense_Mutation_p.S44L|ARFIP1_ENST00000405727.2_Missense_Mutation_p.S44L|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000356064.3_Missense_Mutation_p.S44L			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	44					intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CTTGGTCTCTCAGAAACCCAA	0.358																																						uc003imz.2		NA																	0				ovary(1)	1						c.(130-132)TCA>TTA		ADP-ribosylation factor interacting protein 1							105.0	98.0	100.0					4																	153784795		2203	4300	6503	SO:0001583	missense	27236				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		g.chr4:153784795C>T	U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.131C>T	4.37:g.153784795C>T	ENSP00000395083:p.Ser44Leu					ARFIP1_uc003inb.2_Missense_Mutation_p.S44L|ARFIP1_uc003ina.2_Missense_Mutation_p.S44L|ARFIP1_uc003inc.2_Missense_Mutation_p.S44L|ARFIP1_uc011cij.1_Intron	p.S44L	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN			3	407	+	all_hematologic(180;0.093)		44					Q2M2X4|Q3SYL4|Q9Y2X6	Missense_Mutation	SNP	ENST00000451320.2	37	c.131C>T	CCDS34080.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956928	0.92726	.	.	ENSG00000164144	ENST00000451320;ENST00000353617;ENST00000405727;ENST00000356064	T;T;T;T	0.81330	-1.25;-1.25;-1.48;-1.48	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88262	0.6389	L	0.55481	1.735	0.80722	D	1	P;D	0.63880	0.82;0.993	P;D	0.72338	0.496;0.977	D	0.87130	0.2196	10	0.52906	T	0.07	-13.8547	20.3539	0.98825	0.0:1.0:0.0:0.0	.	44;44	Q2M2X4;P53367	.;ARFP1_HUMAN	L	44	ENSP00000395083:S44L;ENSP00000296557:S44L;ENSP00000384189:S44L;ENSP00000348360:S44L	ENSP00000296557:S44L	S	+	2	0	ARFIP1	154004245	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.457000	0.66672	2.826000	0.97356	0.655000	0.94253	TCA		0.358	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1	NM_014447		12	106	0	0	0	0	12	106				
DCHS2	54798	broad.mit.edu	37	4	155252756	155252756	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:155252756G>C	ENST00000357232.4	-	10	2343	c.2344C>G	c.(2344-2346)Ctg>Gtg	p.L782V	DCHS2_ENST00000339452.1_Intron|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	782	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tcacagaaCAGAGACTTGAGA	0.483																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2344-2346)CTG>GTG		dachsous 2 isoform 1							78.0	62.0	68.0					4																	155252756		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155252756G>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2344C>G	4.37:g.155252756G>C	ENSP00000349768:p.Leu782Val					DCHS2_uc003inx.2_Intron	p.L782V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	10	2344	-	all_hematologic(180;0.208)	Renal(120;0.0854)	782			Cadherin 6.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.2344C>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.538167	0.00942	.	.	ENSG00000197410	ENST00000357232	T	0.54479	0.57	3.29	-0.604	0.11626	Cadherin (2);Cadherin-like (1);	1.586600	0.04802	U	0.433560	T	0.44973	0.1319	M	0.61703	1.905	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.13072	-1.0523	10	0.21540	T	0.41	.	3.3754	0.07235	0.3661:0.2061:0.4278:0.0	.	782	Q6V1P9	PCD23_HUMAN	V	782	ENSP00000349768:L782V	ENSP00000349768:L782V	L	-	1	2	DCHS2	155472206	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.541000	0.06099	-0.178000	0.10672	0.561000	0.74099	CTG		0.483	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		12	27	0	0	0	0	12	27				
NPY5R	4889	broad.mit.edu	37	4	164271639	164271639	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:164271639C>T	ENST00000515560.1	+	4	1736	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	NPY5R_ENST00000338566.3_Nonsense_Mutation_p.Q72*|NPY5R_ENST00000506953.1_Nonsense_Mutation_p.Q72*			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	72					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAAGCGTAATCAGAAGACTAC	0.398																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NA																	0				lung(6)|skin(1)	7						c.(214-216)CAG>TAG		neuropeptide Y receptor Y5							245.0	237.0	240.0					4																	164271639		2203	4300	6503	SO:0001587	stop_gained	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271639C>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.214C>T	4.37:g.164271639C>T	ENSP00000423917:p.Gln72*						p.Q72*	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	396	+	all_hematologic(180;0.166)	Prostate(90;0.109)	72			Cytoplasmic (Potential).		Q6GTR7|Q92916	Nonsense_Mutation	SNP	ENST00000515560.1	37	c.214C>T	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	C	35	5.564914	0.96527	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	.	.	.	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.4352	0.94788	0.0:1.0:0.0:0.0	.	.	.	.	X	72	.	ENSP00000339377:Q72X	Q	+	1	0	NPY5R	164491089	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.143000	0.58051	2.668000	0.90789	0.655000	0.94253	CAG		0.398	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		84	335	0	0	0	0	84	335				
SORBS2	8470	broad.mit.edu	37	4	186545444	186545444	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:186545444G>A	ENST00000284776.7	-	13	1636	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S280F|SORBS2_ENST00000355634.5_Missense_Mutation_p.S476F|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.S376F|SORBS2_ENST00000437304.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	376					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GATTTTGGGAGAGACGGTTTC	0.537																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	0				ovary(1)	1						c.(1126-1128)TCT>TTT		sorbin and SH3 domain containing 2 isoform 2							70.0	69.0	69.0					4																	186545444		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545444G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1127C>T	4.37:g.186545444G>A	ENSP00000284776:p.Ser376Phe					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.S476F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.S280F|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.S490F|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.S376F	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	1985	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	376					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1127C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323550	0.60634	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.40225	1.14;1.14;1.04;1.14	6.0	6.0	0.97389	.	0.447530	0.28176	N	0.016318	T	0.64494	0.2603	L	0.58101	1.795	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.80764	0.994;0.993;0.943	T	0.63440	-0.6637	10	0.87932	D	0	-13.8518	20.5753	0.99366	0.0:0.0:1.0:0.0	.	280;476;376	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	F	376;376;280;476	ENSP00000284776:S376F;ENSP00000411764:S376F;ENSP00000397482:S280F;ENSP00000347852:S476F	ENSP00000284776:S376F	S	-	2	0	SORBS2	186782438	1.000000	0.71417	0.974000	0.42286	0.028000	0.11728	9.620000	0.98373	2.869000	0.98440	0.558000	0.71614	TCT		0.537	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		42	77	0	0	0	0	42	77				
SDHA	6389	broad.mit.edu	37	5	226112	226112	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:226112T>C	ENST00000264932.6	+	5	686	c.571T>C	c.(571-573)Tgt>Cgt	p.C191R	SDHA_ENST00000504309.1_Missense_Mutation_p.C191R|SDHA_ENST00000510361.1_Missense_Mutation_p.C143R	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	191					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCGGTGCTGCTGTGTGGCTGA	0.562									Familial Paragangliomas																													uc003jao.3		NA																	0					0						c.(571-573)TGT>CGT		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						72.0	67.0	68.0					5																	226112		2203	4300	6503	SO:0001583	missense	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:226112T>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.571T>C	5.37:g.226112T>C	ENSP00000264932:p.Cys191Arg					SDHA_uc003jan.2_Missense_Mutation_p.C191R|SDHA_uc011clv.1_Missense_Mutation_p.C191R|SDHA_uc011clw.1_Missense_Mutation_p.C143R|SDHA_uc003jap.3_Missense_Mutation_p.C191R|SDHA_uc003jaq.3_5'Flank	p.C191R	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		5	686	+			191					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.571T>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	-	23.1	4.380974	0.82792	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.62941	-0.01;-0.01;-0.01	5.29	5.29	0.74685	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.66665	0.2812	N	0.21545	0.675	0.80722	D	1	D;D;D;D;D	0.71674	0.979;0.991;0.998;0.996;0.996	D;D;D;D;D	0.71870	0.913;0.944;0.975;0.924;0.924	T	0.71276	-0.4641	10	0.87932	D	0	.	13.5172	0.61547	0.0:0.0:0.0:1.0	.	143;191;191;191;197	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	R	191;191;143	ENSP00000264932:C191R;ENSP00000426514:C191R;ENSP00000427703:C143R	ENSP00000264932:C191R	C	+	1	0	SDHA	279112	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.650000	0.83521	2.139000	0.66308	0.524000	0.50904	TGT		0.562	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		23	171	0	0	0	0	23	171				
DNAH5	1767	broad.mit.edu	37	5	13864529	13864529	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:13864529G>A	ENST00000265104.4	-	28	4677	c.4573C>T	c.(4573-4575)Ctg>Ttg	p.L1525L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1525	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATATTTCAGAAGAGGTGCC	0.408									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(4573-4575)CTG>TTG		dynein, axonemal, heavy chain 5							74.0	77.0	76.0					5																	13864529		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13864529G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4573C>T	5.37:g.13864529G>A							p.L1525L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			28	4615	-	Lung NSC(4;0.00476)		1525			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.4573C>T	CCDS3882.1																																																																																				0.408	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		13	176	0	0	0	0	13	176				
GPBP1	65056	broad.mit.edu	37	5	56531816	56531816	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:56531816G>A	ENST00000506184.2	+	6	1540	c.435G>A	c.(433-435)gaG>gaA	p.E145E	GPBP1_ENST00000264779.6_Silent_p.E152E|GPBP1_ENST00000538707.1_Silent_p.E152E|GPBP1_ENST00000424459.3_Silent_p.E145E|GPBP1_ENST00000511209.1_Silent_p.E152E|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000454432.2_Silent_p.E145E			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	145					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTGAGTATGAGAGAGAACCAA	0.318																																						uc003jrh.3		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(433-435)GAG>GAA		GC-rich promoter binding protein 1 isoform 1							128.0	132.0	130.0					5																	56531816		2203	4300	6503	SO:0001819	synonymous_variant	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56531816G>A		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.435G>A	5.37:g.56531816G>A						GPBP1_uc010iwg.2_Silent_p.E145E|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Silent_p.E152E|GPBP1_uc003jrk.3_Silent_p.E152E|GPBP1_uc003jrl.3_RNA	p.E145E	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	6	1709	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	145					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Silent	SNP	ENST00000506184.2	37	c.435G>A	CCDS34162.1																																																																																				0.318	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		9	136	0	0	0	0	9	136				
PLK2	10769	broad.mit.edu	37	5	57755707	57755707	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:57755707C>T	ENST00000274289.3	-	1	380	c.80G>A	c.(79-81)gGa>gAa	p.G27E	PLK2_ENST00000502671.1_5'Flank	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	27					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CGAGTCCGCTCCGCAACCCTT	0.682																																						uc003jrn.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(79-81)GGA>GAA		polo-like kinase 2							16.0	19.0	18.0					5																	57755707		2203	4293	6496	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57755707C>T		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.80G>A	5.37:g.57755707C>T	ENSP00000274289:p.Gly27Glu					PLK2_uc011cql.1_5'Flank	p.G27E	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	1	207	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	27					O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.80G>A	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324902	0.41197	.	.	ENSG00000145632	ENST00000274289;ENST00000537944;ENST00000442330	T	0.65916	-0.18	5.16	3.21	0.36854	.	0.192892	0.47852	D	0.000213	T	0.29850	0.0746	N	0.02916	-0.46	0.31577	N	0.655586	B	0.13594	0.008	B	0.12156	0.007	T	0.24190	-1.0167	10	0.11182	T	0.66	-8.0694	6.3645	0.21447	0.0:0.5487:0.3005:0.1508	.	27	Q9NYY3	PLK2_HUMAN	E	27	ENSP00000274289:G27E	ENSP00000274289:G27E	G	-	2	0	PLK2	57791464	0.345000	0.24835	0.999000	0.59377	0.548000	0.35241	0.572000	0.23684	1.270000	0.44297	0.491000	0.48974	GGA		0.682	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		4	35	0	0	0	0	4	35				
ERCC8	1161	broad.mit.edu	37	5	60183269	60183269	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:60183269C>G	ENST00000265038.5	-	11	1162	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q	ERCC8_ENST00000543101.1_Missense_Mutation_p.E221Q|ERCC8_ENST00000426742.2_Missense_Mutation_p.E316Q|ERCC8_ENST00000462279.1_5'UTR	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	374					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				ATATTTACCTCATCATCATCA	0.348																																						uc003jsm.3		NA																	0					0						c.(1120-1122)GAG>CAG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							115.0	112.0	113.0					5																	60183269		2203	4300	6503	SO:0001583	missense	1161				positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding	g.chr5:60183269C>G	U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.1120G>C	5.37:g.60183269C>G	ENSP00000265038:p.Glu374Gln					ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.E316Q|ERCC8_uc011cqp.1_Missense_Mutation_p.E221Q	p.E374Q	NM_000082	NP_000073	Q13216	ERCC8_HUMAN			11	1190	-		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)	374					B2RB64|Q6FHX5|Q96GB9	Missense_Mutation	SNP	ENST00000265038.5	37	c.1120G>C	CCDS3978.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215103	0.39102	.	.	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	T;T;T	0.72394	-0.65;-0.36;-0.18	5.23	4.37	0.52481	.	0.682004	0.15209	N	0.274568	T	0.47967	0.1474	N	0.14661	0.345	0.38565	D	0.949814	B;P	0.42735	0.011;0.788	B;B	0.36504	0.006;0.226	T	0.42616	-0.9441	10	0.16896	T	0.51	-22.0734	8.9387	0.35715	0.0:0.8191:0.0:0.1809	.	221;374	B4DGZ9;Q13216	.;ERCC8_HUMAN	Q	316;374;221;373	ENSP00000400110:E316Q;ENSP00000265038:E374Q;ENSP00000441732:E221Q	ENSP00000265038:E374Q	E	-	1	0	ERCC8	60219026	0.983000	0.35010	1.000000	0.80357	0.884000	0.51177	0.723000	0.25939	1.448000	0.47680	0.591000	0.81541	GAG		0.348	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214971.2	NM_000082		33	96	0	0	0	0	33	96				
HTR1A	3350	broad.mit.edu	37	5	63256428	63256428	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:63256428G>A	ENST00000323865.3	-	1	1352	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	373					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGTGGCAGCTGCTCTCGCAGA	0.542																																						uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(1117-1119)AGC>AGT		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						126.0	133.0	130.0					5																	63256428		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256428G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1119C>T	5.37:g.63256428G>A							p.S373S	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1119	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	373			Extracellular (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.1119C>T	CCDS34168.1																																																																																				0.542	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		94	167	0	0	0	0	94	167				
SGTB	54557	broad.mit.edu	37	5	65008794	65008794	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:65008794G>A	ENST00000381007.4	-	3	433	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	66										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		ATACCTTACAGAAGGAACTGG	0.353																																						uc003jud.2		NA																	0					0						c.(196-198)TTC>TTT		small glutamine-rich tetratricopeptide repeat							107.0	104.0	105.0					5																	65008794		2203	4300	6503	SO:0001819	synonymous_variant	54557						binding	g.chr5:65008794G>A	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.198C>T	5.37:g.65008794G>A							p.F66F	NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)	3	418	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)	66						Silent	SNP	ENST00000381007.4	37	c.198C>T	CCDS3988.1																																																																																				0.353	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072		3	116	0	0	0	0	3	116				
SPZ1	84654	broad.mit.edu	37	5	79616896	79616896	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:79616896G>A	ENST00000296739.4	+	1	1107	c.862G>A	c.(862-864)Ggt>Agt	p.G288S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	288					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAATGGAGTCGGTTTCCAAAC	0.413																																						uc003kgn.2		NA																	0				ovary(1)	1						c.(862-864)GGT>AGT		spermatogenic leucine zipper 1							98.0	94.0	95.0					5																	79616896		1862	4099	5961	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616896G>A		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.862G>A	5.37:g.79616896G>A	ENSP00000369611:p.Gly288Ser					uc011ctk.1_RNA	p.G288S	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1107	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	288					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.862G>A	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	3.355	-0.131774	0.06753	.	.	ENSG00000164299	ENST00000296739	T	0.28666	1.6	4.25	-0.192	0.13248	.	1.236250	0.05780	N	0.608379	T	0.12178	0.0296	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.27773	-1.0064	10	0.08599	T	0.76	-7.8873	6.8479	0.23998	0.0:0.2187:0.6341:0.1472	.	288	Q9BXG8	SPZ1_HUMAN	S	288	ENSP00000369611:G288S	ENSP00000369611:G288S	G	+	1	0	SPZ1	79652652	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.763000	0.00784	-0.040000	0.13580	-0.474000	0.04947	GGT		0.413	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		51	70	0	0	0	0	51	70				
SPZ1	84654	broad.mit.edu	37	5	79617264	79617264	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:79617264C>G	ENST00000296739.4	+	1	1475	c.1230C>G	c.(1228-1230)ttC>ttG	p.F410L		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	410					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		ATACCCAGTTCAATATTCATG	0.378																																						uc003kgn.2		NA																	0				ovary(1)	1						c.(1228-1230)TTC>TTG		spermatogenic leucine zipper 1							67.0	67.0	67.0					5																	79617264		1822	4073	5895	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79617264C>G		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.1230C>G	5.37:g.79617264C>G	ENSP00000369611:p.Phe410Leu					uc011ctk.1_RNA	p.F410L	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	1475	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	410					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.1230C>G	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	C	5.980	0.364680	0.11296	.	.	ENSG00000164299	ENST00000296739	T	0.24908	1.83	4.07	2.18	0.27775	.	0.433655	0.19967	N	0.102063	T	0.11367	0.0277	N	0.13003	0.285	0.29778	N	0.834268	B	0.24576	0.106	B	0.25405	0.06	T	0.33599	-0.9862	10	0.02654	T	1	-6.3209	8.6209	0.33859	0.172:0.6616:0.1664:0.0	.	410	Q9BXG8	SPZ1_HUMAN	L	410	ENSP00000369611:F410L	ENSP00000369611:F410L	F	+	3	2	SPZ1	79653020	0.971000	0.33674	0.670000	0.29842	0.104000	0.19210	0.431000	0.21444	0.614000	0.30107	0.557000	0.71058	TTC		0.378	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		24	86	0	0	0	0	24	86				
RASGRF2	5924	broad.mit.edu	37	5	80390809	80390809	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:80390809C>G	ENST00000265080.4	+	12	1820	c.1753C>G	c.(1753-1755)Cag>Gag	p.Q585E		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	585	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGACATCAGTCAGGTAAGAAA	0.383																																						uc003kha.1		NA																	0				breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(1753-1755)CAG>GAG		Ras protein-specific guanine							59.0	61.0	60.0					5																	80390809		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80390809C>G	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1753C>G	5.37:g.80390809C>G	ENSP00000265080:p.Gln585Glu					RASGRF2_uc011ctn.1_RNA	p.Q585E	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	12	1753	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	585			PH 2.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1753C>G	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858541	0.91433	.	.	ENSG00000113319	ENST00000265080	T	0.52754	0.65	5.72	5.72	0.89469	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	M	0.83603	2.65	0.80722	D	1	P	0.45212	0.853	P	0.46110	0.504	T	0.65940	-0.6046	10	0.51188	T	0.08	.	19.4566	0.94895	0.0:1.0:0.0:0.0	.	585	O14827	RGRF2_HUMAN	E	585	ENSP00000265080:Q585E	ENSP00000265080:Q585E	Q	+	1	0	RASGRF2	80426565	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	7.453000	0.80700	2.701000	0.92244	0.650000	0.86243	CAG		0.383	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		14	75	0	0	0	0	14	75				
DCP2	167227	broad.mit.edu	37	5	112337070	112337070	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:112337070C>G	ENST00000389063.2	+	6	800	c.602C>G	c.(601-603)tCt>tGt	p.S201C	DCP2_ENST00000543319.1_5'UTR|DCP2_ENST00000515408.1_Missense_Mutation_p.S201C	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	201	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|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)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		GAGTGGTTCTCTATTGAGAAA	0.333																																						uc003kqh.2		NA																	0					0						c.(601-603)TCT>TGT		DCP2 decapping enzyme							87.0	91.0	90.0					5																	112337070		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding	g.chr5:112337070C>G	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.602C>G	5.37:g.112337070C>G	ENSP00000373715:p.Ser201Cys					DCP2_uc011cwa.1_5'UTR|DCP2_uc010jcc.2_Missense_Mutation_p.S107C	p.S201C	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	6	800	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	201			Nudix hydrolase.		C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.602C>G	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496185	0.64186	.	.	ENSG00000172795	ENST00000515408;ENST00000389063	T;T	0.09911	2.93;2.93	5.56	5.56	0.83823	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.173511	0.56097	D	0.000033	T	0.30947	0.0781	M	0.65320	2	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.63113	0.855;0.911	T	0.00684	-1.1611	10	0.66056	D	0.02	-3.0473	19.5289	0.95219	0.0:1.0:0.0:0.0	.	201;201	Q8IU60-2;Q8IU60	.;DCP2_HUMAN	C	201	ENSP00000425770:S201C;ENSP00000373715:S201C	ENSP00000373715:S201C	S	+	2	0	DCP2	112364969	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.463000	0.80869	2.628000	0.89032	0.453000	0.30009	TCT		0.333	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		40	167	0	0	0	0	40	167				
PCDHA9	9752	broad.mit.edu	37	5	140230180	140230180	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140230180G>A	ENST00000532602.1	+	1	3133	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.L700L|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	700					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTACCTGATCATCGCCA	0.662																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NA																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(2098-2100)CTG>CTA		protocadherin alpha 9 isoform 1 precursor							79.0	72.0	74.0					5																	140230180		2196	4272	6468	SO:0001819	synonymous_variant	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140230180G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2100G>A	5.37:g.140230180G>A						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_uc003lht.1_Silent_p.L700L	p.L700L	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2824	+			700			Helical; (Potential).		O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.2100G>A	CCDS54920.1																																																																																				0.662	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		7	103	0	0	0	0	7	103				
PCDHB4	56131	broad.mit.edu	37	5	140502348	140502348	+	Silent	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140502348A>G	ENST00000194152.1	+	1	768	c.768A>G	c.(766-768)ctA>ctG	p.L256L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	256	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGCCCCCTAGACTCTCCAA	0.448																																						uc003lip.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(766-768)CTA>CTG		protocadherin beta 4 precursor							98.0	107.0	104.0					5																	140502348		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502348A>G	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.768A>G	5.37:g.140502348A>G							p.L256L	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	768	+			256			Cadherin 3.|Extracellular (Potential).		Q4V761	Silent	SNP	ENST00000194152.1	37	c.768A>G	CCDS4246.1																																																																																				0.448	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		57	161	0	0	0	0	57	161				
PCDHGC5	56097	broad.mit.edu	37	5	140868963	140868963	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140868963G>C	ENST00000252087.1	+	1	156	c.156G>C	c.(154-156)ctG>ctC	p.L52L	PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	52	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGGATCTGGGCTTAAAGA	0.582																																						uc003lla.1		NA																	0				ovary(3)	3						c.(154-156)CTG>CTC		protocadherin gamma subfamily C, 5 isoform 1							107.0	106.0	107.0					5																	140868963		2203	4300	6503	SO:0001819	synonymous_variant	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140868963G>C	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.156G>C	5.37:g.140868963G>C						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Silent_p.L52L	p.L52L	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	156	+			52			Extracellular (Potential).|Cadherin 1.		Q9Y5C2	Silent	SNP	ENST00000252087.1	37	c.156G>C	CCDS4263.1																																																																																				0.582	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		13	98	0	0	0	0	13	98				
DIAPH1	1729	broad.mit.edu	37	5	140955833	140955833	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:140955833C>G	ENST00000398557.4	-	14	1565	c.1425G>C	c.(1423-1425)gaG>gaC	p.E475D	DIAPH1_ENST00000520569.1_Missense_Mutation_p.E421D|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E475D|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E466D|DIAPH1_ENST00000253811.6_Missense_Mutation_p.E475D|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E466D|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E466D|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E466D	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	475					actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAGATTTCTCCACCTTTG	0.363																																						uc003llb.3		NA																	0				skin(1)	1						c.(1423-1425)GAG>GAC		diaphanous 1 isoform 1							166.0	150.0	155.0					5																	140955833		1857	4103	5960	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140955833C>G	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1425G>C	5.37:g.140955833C>G	ENSP00000381565:p.Glu475Asp					DIAPH1_uc003llc.3_Missense_Mutation_p.E466D|DIAPH1_uc010jgc.1_5'Flank	p.E475D	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1566	-			475			Potential.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.1425G>C	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675508	0.47781	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.74947	-0.89;-0.89;1.91;-0.89;-0.89;-0.89;-0.89;-0.89	5.78	1.93	0.25924	Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.61825	0.2378	L	0.58669	1.825	0.35626	D	0.809841	P;P	0.44344	0.833;0.833	B;B	0.31946	0.138;0.138	T	0.64175	-0.6469	10	0.45353	T	0.12	.	8.6828	0.34218	0.0:0.5254:0.0:0.4746	.	466;475	E9PEZ2;O60610	.;DIAP1_HUMAN	D	475;421;466;466;466;475;475;466	ENSP00000373706:E475D;ENSP00000429282:E421D;ENSP00000381570:E466D;ENSP00000373709:E466D;ENSP00000381572:E466D;ENSP00000381565:E475D;ENSP00000253811:E475D;ENSP00000428268:E466D	ENSP00000253811:E475D	E	-	3	2	DIAPH1	140936017	0.982000	0.34865	0.999000	0.59377	0.998000	0.95712	0.108000	0.15396	0.061000	0.16311	0.650000	0.86243	GAG		0.363	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		36	145	0	0	0	0	36	145				
RGS14	10636	broad.mit.edu	37	5	176795809	176795809	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr5:176795809C>T	ENST00000408923.3	+	9	1129	c.941C>T	c.(940-942)tCc>tTc	p.S314F		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	314	Necessary for interaction with RABGEF1. {ECO:0000250}.|RBD 1. {ECO:0000255|PROSITE- ProRule:PRU00262}.				cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCACAGCCTCCTTGGCCCTG	0.592											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(47;353 1896 28036)	uc003mgf.2		NA																	0				lung(1)	1						c.(940-942)TCC>TTC		regulator of G-protein signalling 14							96.0	114.0	108.0					5																	176795809		2073	4194	6267	SO:0001583	missense	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176795809C>T	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.941C>T	5.37:g.176795809C>T	ENSP00000386229:p.Ser314Phe		OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1933	RGS14_uc003mgg.1_Missense_Mutation_p.S161F|RGS14_uc003mgh.2_Missense_Mutation_p.S161F|RGS14_uc003mgi.2_Missense_Mutation_p.S84F|RGS14_uc003mgj.2_5'Flank	p.S314F	NM_006480	NP_006471	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1123	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	314			Necessary for interaction with RABGEF1 (By similarity).|RBD 1.		O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	c.941C>T	CCDS43405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.87|16.87	3.241038|3.241038	0.58995|0.58995	.|.	.|.	ENSG00000169220|ENSG00000169220	ENST00000511890|ENST00000408923;ENST00000336477	.|T	.|0.48522	.|0.81	4.27|4.27	4.27|4.27	0.50696|0.50696	.|Raf-like Ras-binding (3);	.|0.062472	.|0.64402	.|D	.|0.000002	T|T	0.65668|0.65668	0.2713|0.2713	M|M	0.64997|0.64997	1.995|1.995	0.49483|0.49483	D|D	0.999791|0.999791	.|D;D;D;D	.|0.76494	.|0.999;0.992;0.999;0.977	.|D;P;D;D	.|0.71656	.|0.974;0.9;0.94;0.934	T|T	0.70619|0.70619	-0.4822|-0.4822	5|10	.|0.72032	.|D	.|0.01	-21.2377|-21.2377	16.8633|16.8633	0.86023|0.86023	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|84;161;161;314	.|B3KUX0;O43566-5;O43566-4;O43566	.|.;.;.;RGS14_HUMAN	S|F	184|314;94	.|ENSP00000386229:S314F	.|ENSP00000336864:S94F	P|S	+|+	1|2	0|0	RGS14|RGS14	176728415|176728415	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.397000|0.397000	0.30659|0.30659	4.666000|4.666000	0.61554|0.61554	2.184000|2.184000	0.69523|0.69523	0.561000|0.561000	0.74099|0.74099	CCT|TCC		0.592	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		31	41	0	0	0	0	31	41				
HIST1H1B	3009	broad.mit.edu	37	6	27834627	27834627	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:27834627C>T	ENST00000331442.3	-	1	732	c.681G>A	c.(679-681)taG>taA	p.*227*		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	0					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CGCCAGCTTCCTACTTCTTTT	0.517																																						uc003njx.2		NA																	0				large_intestine(2)|lung(1)	3						c.(679-681)TAG>TAA		histone cluster 1, H1b							37.0	35.0	36.0					6																	27834627		2203	4300	6503	SO:0001819	synonymous_variant	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834627C>T	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.681G>A	6.37:g.27834627C>T							p.*227*	NM_005322	NP_005313	P16401	H15_HUMAN			1	733	-			227					Q14529|Q3MJ42	Silent	SNP	ENST00000331442.3	37	c.681G>A	CCDS4635.1																																																																																				0.517	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		15	23	0	0	0	0	15	23				
PRRC2A	7916	broad.mit.edu	37	6	31597336	31597336	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:31597336G>A	ENST00000376033.2	+	14	2202	c.1968G>A	c.(1966-1968)ctG>ctA	p.L656L	PRRC2A_ENST00000376007.4_Silent_p.L656L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	656	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGCAGCTCCTGAagcagcagc	0.557																																						uc003nvb.3		NA																	0					0						c.(1966-1968)CTG>CTA		HLA-B associated transcript-2							143.0	162.0	156.0					6																	31597336		2074	4081	6155	SO:0001819	synonymous_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31597336G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1968G>A	6.37:g.31597336G>A						BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.L656L	p.L656L	NM_080686	NP_542417	P48634	PRC2A_HUMAN			14	2217	+			656			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Silent	SNP	ENST00000376033.2	37	c.1968G>A	CCDS4708.1																																																																																				0.557	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		145	239	0	0	0	0	145	239				
RXRB	6257	broad.mit.edu	37	6	33165572	33165572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:33165572G>A	ENST00000374680.3	-	4	998	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000544186.1_Nonsense_Mutation_p.Q73*|RXRB_ENST00000413614.2_Nonsense_Mutation_p.Q167*|RXRB_ENST00000374685.4_Nonsense_Mutation_p.Q263*	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	263					cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCACTTCTGATAGCGGCAG	0.577																																						uc003odb.2		NA																	0				ovary(3)	3						c.(787-789)CAG>TAG		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						68.0	60.0	63.0					6																	33165572		1511	2709	4220	SO:0001587	stop_gained	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33165572G>A	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.787C>T	6.37:g.33165572G>A	ENSP00000363812:p.Gln263*					RXRB_uc003odc.2_Nonsense_Mutation_p.Q263*|RXRB_uc003odd.2_Nonsense_Mutation_p.Q167*|RXRB_uc011dqr.1_Nonsense_Mutation_p.Q73*|RXRB_uc011dqs.1_Nonsense_Mutation_p.Q146*|RXRB_uc003ode.1_Nonsense_Mutation_p.Q127*|RXRB_uc011dqt.1_Nonsense_Mutation_p.Q263*|RXRB_uc011dqu.1_Nonsense_Mutation_p.Q167*	p.Q263*	NM_021976	NP_068811	P28702	RXRB_HUMAN			4	966	-			263			NR C4-type.|Nuclear receptor.		P28703|Q59G65|Q5JP92|Q5STQ1	Nonsense_Mutation	SNP	ENST00000374680.3	37	c.787C>T	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	G	37	6.305447	0.97458	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	.	.	.	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	15.1459	0.72650	0.0:0.0:1.0:0.0	.	.	.	.	X	263;263;73;167	.	ENSP00000363812:Q263X	Q	-	1	0	RXRB	33273550	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.598000	0.82745	2.505000	0.84491	0.448000	0.29417	CAG		0.577	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		6	69	0	0	0	0	6	69				
SLC26A8	116369	broad.mit.edu	37	6	35980010	35980010	+	Splice_Site	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:35980010C>G	ENST00000490799.1	-	3	681	c.328G>C	c.(328-330)Ggc>Cgc	p.G110R	SLC26A8_ENST00000394602.2_Splice_Site_p.G110R|SLC26A8_ENST00000355574.2_Splice_Site_p.G110R	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTTCCTTACCTTGGGGAACT	0.418																																						uc003olm.2		NA																	0				ovary(2)	2						c.(328-330)GGC>CGC		solute carrier family 26, member 8 isoform a							262.0	249.0	253.0					6																	35980010		2203	4300	6503	SO:0001630	splice_region_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35980010C>G	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.328+1G>C	6.37:g.35980010C>G						SLC26A8_uc003oln.2_Missense_Mutation_p.G110R|SLC26A8_uc003oll.2_Missense_Mutation_p.G110R	p.G110R	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			3	439	-			110			Helical; (Potential).			Missense_Mutation	SNP	ENST00000490799.1	37	c.328G>C	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362073	0.41902	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.92299	-3.01;-3.01;-3.01	5.81	5.81	0.92471	.	0.439774	0.23439	N	0.048162	D	0.96568	0.8880	M	0.93638	3.44	0.46823	D	0.999215	D;D	0.61080	0.973;0.989	P;D	0.63877	0.876;0.919	D	0.97128	0.9816	9	.	.	.	.	15.5796	0.76422	0.0:1.0:0.0:0.0	.	110;110	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	R	110	ENSP00000417638:G110R;ENSP00000378100:G110R;ENSP00000347778:G110R	.	G	-	1	0	SLC26A8	36087988	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.918000	0.56432	2.747000	0.94245	0.650000	0.86243	GGC		0.418	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2		Missense_Mutation	28	454	0	0	0	0	28	454				
HCRTR2	3062	broad.mit.edu	37	6	55113511	55113511	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:55113511G>T	ENST00000370862.3	+	2	634	c.298G>T	c.(298-300)Gat>Tat	p.D100Y		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	100					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTCTCTGGCTGATGTGCTCGT	0.453																																						uc003pcl.2		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6						c.(298-300)GAT>TAT		orexin receptor 2							237.0	212.0	220.0					6																	55113511		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113511G>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.298G>T	6.37:g.55113511G>T	ENSP00000359899:p.Asp100Tyr					HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.D35Y	p.D100Y	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	613	+	Lung NSC(77;0.107)|Renal(3;0.122)		100			Helical; Name=2; (Potential).		Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.298G>T	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357506	0.82243	.	.	ENSG00000137252	ENST00000370862	D	0.88896	-2.44	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96710	0.8926	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98393	1.0564	10	0.87932	D	0	.	18.2553	0.90017	0.0:0.0:1.0:0.0	.	100;100	Q548Y0;O43614	.;OX2R_HUMAN	Y	100	ENSP00000359899:D100Y	ENSP00000359899:D100Y	D	+	1	0	HCRTR2	55221470	1.000000	0.71417	0.869000	0.34112	0.887000	0.51463	9.420000	0.97426	2.373000	0.80994	0.650000	0.86243	GAT		0.453	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			32	235	1	0	6.01e-18	6.63e-18	32	235				
DST	667	broad.mit.edu	37	6	56458614	56458614	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:56458614C>T	ENST00000361203.3	-	44	11947	c.11940G>A	c.(11938-11940)ttG>ttA	p.L3980L	DST_ENST00000244364.6_Silent_p.L1568L|DST_ENST00000421834.2_Silent_p.L1894L|DST_ENST00000446842.2_Silent_p.L3656L|DST_ENST00000370788.2_Silent_p.L1894L|DST_ENST00000370769.4_Silent_p.L3982L|DST_ENST00000370754.5_Silent_p.L4160L|DST_ENST00000312431.6_Silent_p.L3980L			Q03001	DYST_HUMAN	dystonin	3980					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGATGTATCTCAAGTCACCTT	0.438																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(6214-6216)TTG>TTA		dystonin isoform 2							216.0	212.0	213.0					6																	56458614		1904	4131	6035	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56458614C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11940G>A	6.37:g.56458614C>T						DST_uc003pcz.3_Silent_p.L1894L|DST_uc011dxj.1_Silent_p.L1923L|DST_uc011dxk.1_Silent_p.L1934L|DST_uc003pcy.3_Silent_p.L1568L|DST_uc010kaa.1_RNA	p.L2072L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		42	6244	-	Lung NSC(77;0.103)		3980			Spectrin 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.6216G>A																																																																																					0.438	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		37	364	0	0	0	0	37	364				
EEF1A1	1915	broad.mit.edu	37	6	74229717	74229717	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:74229717G>A	ENST00000316292.9	-	1	1024	c.33C>T	c.(31-33)gtC>gtT	p.V11V	EEF1A1_ENST00000309268.6_Silent_p.V11V|EEF1A1_ENST00000331523.2_Silent_p.V11V|EEF1A1_ENST00000491404.1_5'Flank	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	11	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTCCAATGACGACAATGTTGA	0.418																																						uc003phi.2		NA																	0					0						c.(31-33)GTC>GTT		eukaryotic translation elongation factor 1 alpha							55.0	56.0	56.0					6																	74229717		2203	4286	6489	SO:0001819	synonymous_variant	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229717G>A	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.33C>T	6.37:g.74229717G>A						EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Silent_p.V11V|EEF1A1_uc003phf.2_Silent_p.V11V|EEF1A1_uc003phg.2_Silent_p.V11V|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Silent_p.V11V|EEF1A1_uc003phk.2_Silent_p.V11V|EEF1A1_uc003phl.2_Silent_p.V11V|EEF1A1_uc003phm.1_RNA	p.V11V	NM_001402	NP_001393	P68104	EF1A1_HUMAN			1	70	-			11					P04719|P04720|Q6IQ15	Silent	SNP	ENST00000316292.9	37	c.33C>T	CCDS4980.1																																																																																				0.418	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		15	127	0	0	0	0	15	127				
GABRR2	2570	broad.mit.edu	37	6	89974233	89974233	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:89974233G>C	ENST00000402938.3	-	8	1117	c.984C>G	c.(982-984)ctC>ctG	p.L328L	GABRR2_ENST00000602399.1_Silent_p.L353L	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	328					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	AGCTGACCCAGAGGTAGATGT	0.592																																						uc003pnb.2		NA																	0					0						c.(1057-1059)CTC>CTG		gamma-aminobutyric acid (GABA) receptor, rho 2							153.0	121.0	132.0					6																	89974233		2203	4300	6503	SO:0001819	synonymous_variant	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89974233G>C		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.984C>G	6.37:g.89974233G>C						GABRR2_uc011dzx.1_Silent_p.L229L	p.L353L	NM_002043	NP_002034	P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	8	1067	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	353			Helical; (Potential).		A2BDE4|Q9H153	Silent	SNP	ENST00000402938.3	37	c.1059C>G	CCDS5020.3																																																																																				0.592	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			22	95	0	0	0	0	22	95				
MDN1	23195	broad.mit.edu	37	6	90494802	90494802	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:90494802G>C	ENST00000369393.3	-	9	1493	c.1378C>G	c.(1378-1380)Cat>Gat	p.H460D	MDN1_ENST00000428876.1_Missense_Mutation_p.H460D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	460					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAAGTAGCATGACTGTTTAGC	0.378																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(1378-1380)CAT>GAT		MDN1, midasin homolog							270.0	256.0	261.0					6																	90494802		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90494802G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1378C>G	6.37:g.90494802G>C	ENSP00000358400:p.His460Asp					MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Missense_Mutation_p.H460D	p.H460D	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	9	1494	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	460					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.1378C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174068	0.38413	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.35973	1.28;1.28	5.56	3.78	0.43462	ATPase, AAA+ type, core (1);	0.109437	0.64402	D	0.000007	T	0.29914	0.0748	M	0.69823	2.125	0.48185	D	0.999604	D;P	0.53462	0.96;0.828	P;B	0.50192	0.634;0.216	T	0.08066	-1.0740	10	0.22706	T	0.39	.	11.9951	0.53196	0.1408:0.0:0.8592:0.0	.	460;460	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	D	460	ENSP00000358400:H460D;ENSP00000413970:H460D	ENSP00000358400:H460D	H	-	1	0	MDN1	90551523	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.828000	0.62730	0.714000	0.32081	0.585000	0.79938	CAT		0.378	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			6	344	0	0	0	0	6	344				
MAP3K5	4217	broad.mit.edu	37	6	136888996	136888996	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:136888996G>A	ENST00000359015.4	-	26	3894	c.3534C>T	c.(3532-3534)ttC>ttT	p.F1178F	MAP3K5_ENST00000355845.4_Silent_p.F425F	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1178					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGCAAGGCTGAAATGTGGCC	0.408																																						uc003qhc.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(3532-3534)TTC>TTT		mitogen-activated protein kinase kinase kinase							154.0	135.0	142.0					6																	136888996		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136888996G>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3534C>T	6.37:g.136888996G>A						MAP3K5_uc011edj.1_Silent_p.F425F|MAP3K5_uc011edk.1_Silent_p.F1024F	p.F1178F	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	26	3895	-	Colorectal(23;0.24)		1178					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.3534C>T	CCDS5179.1																																																																																				0.408	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			48	106	0	0	0	0	48	106				
FNDC1	84624	broad.mit.edu	37	6	159659662	159659662	+	Missense_Mutation	SNP	G	G	A	rs200758408	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:159659662G>A	ENST00000297267.9	+	13	4345	c.4145G>A	c.(4144-4146)cGg>cAg	p.R1382Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.R1319Q|FNDC1-IT1_ENST00000419703.1_RNA	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1382					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AATCCTCTTCGGATTAAACTA	0.388													G|||	3	0.000599042	0.0	0.0014	5008	,	,		18835	0.0		0.0	False		,,,				2504	0.002					uc010kjv.2		NA																	0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(4144-4146)CGG>CAG		fibronectin type III domain containing 1		G	GLN/ARG	2,3714		0,2,1856	89.0	79.0	82.0		4145	5.2	0.4	6		82	9,8201		0,9,4096	yes	missense	FNDC1	NM_032532.2	43	0,11,5952	AA,AG,GG		0.1096,0.0538,0.0922	possibly-damaging	1382/1895	159659662	11,11915	1858	4105	5963	SO:0001583	missense	84624					extracellular region		g.chr6:159659662G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4145G>A	6.37:g.159659662G>A	ENSP00000297267:p.Arg1382Gln					FNDC1_uc010kjw.1_Missense_Mutation_p.R1267Q	p.R1382Q	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	13	4345	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1382					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.4145G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002086	0.74932	5.38E-4	0.001096	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.18960	2.18;2.99	6.03	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.71581	2.175	0.44807	D	0.997812	D;D	0.67145	0.996;0.985	P;B	0.52881	0.712;0.297	T	0.07385	-1.0775	10	0.62326	D	0.03	-17.4806	15.3127	0.74048	0.0667:0.0:0.9333:0.0	.	1319;1382	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	Q	1382;1319	ENSP00000297267:R1382Q;ENSP00000342460:R1319Q	ENSP00000297267:R1382Q	R	+	2	0	FNDC1	159579652	1.000000	0.71417	0.407000	0.26434	0.988000	0.76386	4.525000	0.60559	1.558000	0.49541	0.655000	0.94253	CGG		0.388	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		8	20	0	0	0	0	8	20				
WTAP	9589	broad.mit.edu	37	6	160176375	160176375	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:160176375G>A	ENST00000358372.4	+	8	2680	c.923G>A	c.(922-924)gGg>gAg	p.G308E	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	308					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TCTTCTCCAGGGAATGGTAAT	0.507																																						uc003qsl.2		NA																	0					0						c.(922-924)GGG>GAG		Wilms' tumour 1-associating protein isoform 1							95.0	91.0	92.0					6																	160176375		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176375G>A	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.923G>A	6.37:g.160176375G>A	ENSP00000351141:p.Gly308Glu					WTAP_uc003qso.2_Missense_Mutation_p.G189E	p.G308E	NM_004906	NP_004897	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	1145	+		Breast(66;0.000776)|Ovarian(120;0.0303)	308					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.923G>A	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478976	0.44044	.	.	ENSG00000146457	ENST00000358372	T	0.48522	0.81	6.17	6.17	0.99709	.	0.218733	0.47852	D	0.000201	T	0.10895	0.0266	N	0.04508	-0.205	0.80722	D	1	B;B	0.12013	0.005;0.001	B;B	0.15052	0.012;0.001	T	0.15809	-1.0424	10	0.02654	T	1	-0.7236	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	308;308	A8K489;Q15007	.;FL2D_HUMAN	E	308	ENSP00000351141:G308E	ENSP00000351141:G308E	G	+	2	0	WTAP	160096365	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.824000	0.62701	2.941000	0.99782	0.655000	0.94253	GGG		0.507	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		30	71	0	0	0	0	30	71				
TCP1	6950	broad.mit.edu	37	6	160200096	160200096	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:160200096G>A	ENST00000321394.7	-	12	1932	c.1652C>T	c.(1651-1653)tCt>tTt	p.S551F	TCP1_ENST00000544255.1_Missense_Mutation_p.S327F|TCP1_ENST00000392168.2_Missense_Mutation_p.S396F|SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000420894.2_3'UTR|ACAT2_ENST00000541436.1_3'UTR	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	551					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AAGGGCTCCAGAGTGAACAGC	0.318																																						uc003qsr.2		NA																	0				breast(1)	1						c.(1651-1653)TCT>TTT		T-complex protein 1 isoform a							65.0	66.0	66.0					6																	160200096		2203	4300	6503	SO:0001583	missense	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160200096G>A	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.1652C>T	6.37:g.160200096G>A	ENSP00000317334:p.Ser551Phe					TCP1_uc003qss.2_Missense_Mutation_p.S396F|TCP1_uc010kjz.2_3'UTR|TCP1_uc003qst.2_Missense_Mutation_p.S327F	p.S551F	NM_030752	NP_110379	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	12	1887	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	551					E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	c.1652C>T	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812781	0.90707	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000392168	T;T;T	0.69806	-0.43;3.0;3.17	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	L	0.29908	0.895	0.80722	D	1	D	0.56968	0.978	P	0.56216	0.794	T	0.67829	-0.5569	10	0.66056	D	0.02	-4.0957	20.3437	0.98782	0.0:0.0:1.0:0.0	.	551	P17987	TCPA_HUMAN	F	551;327;396	ENSP00000317334:S551F;ENSP00000439447:S327F;ENSP00000376008:S396F	ENSP00000317334:S551F	S	-	2	0	TCP1	160120086	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.445000	0.80570	2.821000	0.97095	0.555000	0.69702	TCT		0.318	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		22	90	0	0	0	0	22	90				
PLG	5340	broad.mit.edu	37	6	161134091	161134092	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:161134091_161134092GG>AA	ENST00000308192.9	+	5	544_545	c.481_482GG>AA	c.(481-483)GGg>AAg	p.G161K	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	161	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGATCCGCAGGGGCCCTGGTGC	0.48																																						uc003qtm.3		NA																	0				skin(3)|ovary(1)	4	GRCh37	CM068074	PLG	M		c.(481-483)GGG>AAG		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)																																			SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161134091_161134092GG>AA	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	Exception_encountered	6.37:g.161134091_161134092delinsAA	ENSP00000308938:p.Gly161Lys						p.G161K	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	5	544_545	+			161			Kringle 1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	DNP	ENST00000308192.9	37	c.481_482GG>AA	CCDS5279.1																																																																																				0.480	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		74	154	0	0	0	0	74	154				
MLLT4	4301	broad.mit.edu	37	6	168276155	168276155	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:168276155C>G	ENST00000447894.2	+	5	719	c.719C>G	c.(718-720)tCa>tGa	p.S240*	MLLT4_ENST00000392108.3_Nonsense_Mutation_p.S240*|MLLT4_ENST00000366806.2_Nonsense_Mutation_p.S240*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.S239*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.S240*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.S239*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.S240*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	240					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTTCGGAGCTCAGATGGGCGG	0.438			T	MLL	AL																																	uc003qwd.2		NA		Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5						c.(715-717)TCA>TGA		myeloid/lymphoid or mixed-lineage leukemia							184.0	195.0	191.0					6																	168276155		2203	4296	6499	SO:0001587	stop_gained	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168276155C>G	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.719C>G	6.37:g.168276155C>G	ENSP00000404595:p.Ser240*					MLLT4_uc003qwb.1_Nonsense_Mutation_p.S239*|MLLT4_uc003qwc.1_Nonsense_Mutation_p.S240*	p.S239*	NM_001040001	NP_001035090	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	5	858	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	240					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	ENST00000447894.2	37	c.716C>G		.	.	.	.	.	.	.	.	.	.	C	19.13	3.768802	0.69878	.	.	ENSG00000130396	ENST00000400825;ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400824;ENST00000400822;ENST00000447894	.	.	.	4.48	4.48	0.54585	.	0.397878	0.25132	N	0.032897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-2.9724	17.3329	0.87271	0.0:1.0:0.0:0.0	.	.	.	.	X	240;240;240;240;240;239;240;241;239;240	.	ENSP00000345834:S240X	S	+	2	0	MLLT4	168019004	1.000000	0.71417	0.938000	0.37757	0.912000	0.54170	3.205000	0.51090	2.333000	0.79357	0.460000	0.39030	TCA		0.438	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		53	341	0	0	0	0	53	341				
SMOC2	64094	broad.mit.edu	37	6	169053734	169053734	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr6:169053734G>A	ENST00000356284.2	+	11	1331	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	SMOC2_ENST00000354536.5_Missense_Mutation_p.E382K	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	371	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGGCAAAAAGGAAATCAAACC	0.443																																						uc003qws.1		NA																	0				ovary(1)	1						c.(1111-1113)GAA>AAA		SPARC related modular calcium binding 2							75.0	77.0	76.0					6																	169053734		2203	4300	6503	SO:0001583	missense	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:169053734G>A	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.1111G>A	6.37:g.169053734G>A	ENSP00000348630:p.Glu371Lys					SMOC2_uc003qwr.1_Missense_Mutation_p.E382K|SMOC2_uc011egu.1_Missense_Mutation_p.E48K	p.E371K	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	11	1131	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	371			EF-hand 1.|1 (Potential).		B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	ENST00000356284.2	37	c.1111G>A	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138248	0.94560	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793;ENST00000392101;ENST00000538593	T;T	0.70631	-0.42;-0.5	4.83	4.83	0.62350	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	D	0.87386	0.2360	10	0.87932	D	0	-6.0134	16.9285	0.86183	0.0:0.0:1.0:0.0	.	371;382	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	K	371;382;371;48;48	ENSP00000348630:E371K;ENSP00000346537:E382K	ENSP00000346537:E382K	E	+	1	0	SMOC2	168795659	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.063000	0.93927	2.208000	0.71279	0.655000	0.94253	GAA		0.443	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			34	103	0	0	0	0	34	103				
USP42	84132	broad.mit.edu	37	7	6193669	6193669	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:6193669G>C	ENST00000306177.5	+	15	2642	c.2484G>C	c.(2482-2484)gcG>gcC	p.A828A		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	828	Pro-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CAGGCGATGCGAGCCCGTTGT	0.716																																						uc011jwo.1		NA																	0				skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(2482-2484)GCG>GCC		ubiquitin specific peptidase 42							31.0	36.0	34.0					7																	6193669		1895	4005	5900	SO:0001819	synonymous_variant	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6193669G>C	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.2484G>C	7.37:g.6193669G>C						USP42_uc011jwp.1_Silent_p.A828A|USP42_uc011jwq.1_Silent_p.A635A|USP42_uc011jwr.1_Silent_p.A673A	p.A828A	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	15	2607	+		Ovarian(82;0.0423)	828			Pro-rich.		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	c.2484G>C	CCDS47535.1																																																																																				0.716	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		9	66	0	0	0	0	9	66				
HIBADH	11112	broad.mit.edu	37	7	27689115	27689115	+	Missense_Mutation	SNP	C	C	T	rs371063501		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:27689115C>T	ENST00000265395.2	-	2	435	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	77					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	3-hydroxyisobutyrate dehydrogenase activity (GO:0008442)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)			TCTTGAAACTCTTTGCAGGCA	0.353																																						uc003szf.2		NA																	0				ovary(2)	2						c.(229-231)GAG>AAG		3-hydroxyisobutyrate dehydrogenase precursor	NADH(DB00157)	C	LYS/GLU	0,4406		0,0,2203	91.0	91.0	91.0		229	6.0	1.0	7		91	1,8599		0,1,4299	no	missense	HIBADH	NM_152740.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	77/337	27689115	1,13005	2203	4300	6503	SO:0001583	missense	11112				branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	g.chr7:27689115C>T	AF529362	CCDS5414.1	7p15	2009-06-12			ENSG00000106049	ENSG00000106049	1.1.1.31		4907	protein-coding gene	gene with protein product		608475					Standard	NM_152740		Approved	NS5ATP1	uc003szf.3	P31937	OTTHUMG00000097035	ENST00000265395.2:c.229G>A	7.37:g.27689115C>T	ENSP00000265395:p.Glu77Lys					HIBADH_uc003szg.2_Missense_Mutation_p.E28K|HIBADH_uc003szh.2_Intron|HIBADH_uc003szi.2_Missense_Mutation_p.E28K	p.E77K	NM_152740	NP_689953	P31937	3HIDH_HUMAN	GBM - Glioblastoma multiforme(3;0.0368)		2	424	-			77					Q546Z2|Q9UDN3	Missense_Mutation	SNP	ENST00000265395.2	37	c.229G>A	CCDS5414.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479666	0.44044	0.0	1.16E-4	ENSG00000106049	ENST00000265395	T	0.30714	1.52	6.02	6.02	0.97574	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.185670	0.56097	D	0.000027	T	0.26412	0.0645	L	0.33339	1.005	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.12889	-1.0530	10	0.09084	T	0.74	-11.5908	20.5407	0.99260	0.0:1.0:0.0:0.0	.	77;77	Q546Z2;P31937	.;3HIDH_HUMAN	K	77	ENSP00000265395:E77K	ENSP00000265395:E77K	E	-	1	0	HIBADH	27655640	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	GAG		0.353	HIBADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214132.1	NM_152740		26	49	0	0	0	0	26	49				
NEUROD6	63974	broad.mit.edu	37	7	31378495	31378495	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:31378495G>C	ENST00000297142.3	-	2	710	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	130	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ATTTTGGACAGTTTCTGGGTT	0.483																																						uc003tch.2		NA																	0				ovary(2)	2						c.(388-390)CTG>GTG		neurogenic differentiation 6							89.0	92.0	91.0					7																	31378495		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378495G>C	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.388C>G	7.37:g.31378495G>C	ENSP00000297142:p.Leu130Val						p.L130V	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	741	-			130			Helix-loop-helix motif.		Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.388C>G	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746247	0.69418	.	.	ENSG00000164600	ENST00000297142	D	0.98777	-5.13	5.25	5.25	0.73442	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99266	0.9744	M	0.88512	2.96	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.99301	1.0901	10	0.87932	D	0	-9.4601	18.86	0.92268	0.0:0.0:1.0:0.0	.	130	Q96NK8	NDF6_HUMAN	V	130	ENSP00000297142:L130V	ENSP00000297142:L130V	L	-	1	2	NEUROD6	31345020	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.459000	0.83118	0.650000	0.86243	CTG		0.483	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		41	77	0	0	0	0	41	77				
CAMK2B	816	broad.mit.edu	37	7	44281890	44281890	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:44281890A>G	ENST00000395749.2	-	10	822	c.746T>C	c.(745-747)aTc>aCc	p.I249T	CAMK2B_ENST00000358707.3_Missense_Mutation_p.I249T|CAMK2B_ENST00000457475.1_Missense_Mutation_p.I249T|CAMK2B_ENST00000347193.4_Missense_Mutation_p.I249T|CAMK2B_ENST00000258682.6_Missense_Mutation_p.I249T|CAMK2B_ENST00000502837.2_Missense_Mutation_p.I120T|CAMK2B_ENST00000395747.2_Missense_Mutation_p.I249T|CAMK2B_ENST00000353625.4_Missense_Mutation_p.I249T|CAMK2B_ENST00000346990.4_Missense_Mutation_p.I249T|CAMK2B_ENST00000350811.3_Missense_Mutation_p.I249T|CAMK2B_ENST00000440254.2_Missense_Mutation_p.I249T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CATCTGGTTGATGAGGTTTTT	0.627																																						uc003tkq.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(745-747)ATC>ACC		calcium/calmodulin-dependent protein kinase II							159.0	155.0	156.0					7																	44281890		2203	4300	6503	SO:0001583	missense	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44281890A>G	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.746T>C	7.37:g.44281890A>G	ENSP00000379098:p.Ile249Thr					CAMK2B_uc003tkp.2_Missense_Mutation_p.I249T|CAMK2B_uc003tkx.2_Missense_Mutation_p.I249T|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.I249T|CAMK2B_uc003tks.2_Missense_Mutation_p.I249T|CAMK2B_uc003tku.2_Missense_Mutation_p.I249T|CAMK2B_uc003tkv.2_Missense_Mutation_p.I249T|CAMK2B_uc003tkt.2_Missense_Mutation_p.I249T|CAMK2B_uc003tkw.2_Missense_Mutation_p.I249T|CAMK2B_uc010kyc.2_Missense_Mutation_p.I249T	p.I249T	NM_001220	NP_001211	Q13554	KCC2B_HUMAN			10	956	-			249			Protein kinase.		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	ENST00000395749.2	37	c.746T>C	CCDS5483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.7|23.7	4.449332|4.449332	0.84101|0.84101	.|.	.|.	ENSG00000058404|ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000502837;ENST00000440254;ENST00000358707;ENST00000353625;ENST00000347193;ENST00000346990;ENST00000258682;ENST00000395747|ENST00000433930	T;T;T;T;T;T;T;T;T;T;T|.	0.71341|.	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.76378|0.76378	0.3979|0.3979	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;0.996;1.0;1.0;0.999;1.0;1.0;0.997;1.0|.	D;D;D;D;D;D;D;D;D|.	0.97110|.	0.999;0.998;0.999;1.0;0.998;1.0;1.0;0.999;1.0|.	T|T	0.79193|0.79193	-0.1904|-0.1904	9|5	0.87932|.	D|.	0|.	.|.	13.4502|13.4502	0.61167|0.61167	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	249;249;249;249;249;249;249;249;249|.	Q13554-8;Q13554-7;Q13554-4;Q13554-3;Q13554-6;A4D2K5;Q13554-5;Q13554;Q13554-2|.	.;.;.;.;.;.;.;KCC2B_HUMAN;.|.	T|P	249;249;249;120;249;249;249;249;249;249;249|6	ENSP00000326375:I249T;ENSP00000390292:I249T;ENSP00000379098:I249T;ENSP00000422416:I120T;ENSP00000397937:I249T;ENSP00000351542:I249T;ENSP00000326427:I249T;ENSP00000326544:I249T;ENSP00000326518:I249T;ENSP00000258682:I249T;ENSP00000379096:I249T|.	ENSP00000258682:I249T|.	I|S	-|-	2|1	0|0	CAMK2B|CAMK2B	44248415|44248415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	8.953000|8.953000	0.93041|0.93041	1.847000|1.847000	0.53656|0.53656	0.460000|0.460000	0.39030|0.39030	ATC|TCA		0.627	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		45	95	0	0	0	0	45	95				
ZNF273	10793	broad.mit.edu	37	7	64363754	64363754	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:64363754G>A	ENST00000476120.1	+	1	130	c.59G>A	c.(58-60)aGa>aAa	p.R20K	ZNF273_ENST00000545510.1_5'UTR|ZNF273_ENST00000319636.5_Intron|ZNF273_ENST00000527278.1_Intron	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	20					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(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GGTATTGGGAGATCCACAGCT	0.597																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	uc003tto.2		NA																	0					0						c.(58-60)AGA>AAA		zinc finger protein 273							76.0	76.0	76.0					7																	64363754		2203	4300	6503	SO:0001583	missense	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64363754G>A	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.59G>A	7.37:g.64363754G>A	ENSP00000418719:p.Arg20Lys					ZNF273_uc003ttl.2_Intron|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_Intron	p.R20K	NM_021148	NP_066971	Q14593	ZN273_HUMAN			1	135	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	20					B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	c.59G>A	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.782594	0.00634	.	.	ENSG00000198039	ENST00000476120	T	0.06449	3.3	0.158	-0.317	0.12736	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.23186	N	0.998151	B	0.20164	0.042	B	0.16289	0.015	T	0.43393	-0.9394	8	0.46703	T	0.11	.	.	.	.	.	20	Q14593	ZN273_HUMAN	K	20	ENSP00000418719:R20K	ENSP00000433382:R20K	R	+	2	0	ZNF273	64001189	0.002000	0.14202	0.258000	0.24420	0.264000	0.26372	-0.305000	0.08188	-1.039000	0.03275	-1.027000	0.02421	AGA		0.597	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			49	90	0	0	0	0	49	90				
ZNF273	10793	broad.mit.edu	37	7	64388515	64388515	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:64388515C>T	ENST00000476120.1	+	4	880	c.809C>T	c.(808-810)gCc>gTc	p.A270V	ZNF273_ENST00000319636.5_Missense_Mutation_p.A205V|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	270					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(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTGGCAAAGCCTTTAACCAG	0.328																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	uc003tto.2		NA																	0					0						c.(808-810)GCC>GTC		zinc finger protein 273							41.0	47.0	45.0					7																	64388515		2202	4299	6501	SO:0001583	missense	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64388515C>T	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.809C>T	7.37:g.64388515C>T	ENSP00000418719:p.Ala270Val					ZNF273_uc003ttl.2_Missense_Mutation_p.A205V|ZNF273_uc003ttn.2_Missense_Mutation_p.A205V	p.A270V	NM_021148	NP_066971	Q14593	ZN273_HUMAN			4	885	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	270			C2H2-type 3.		B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	c.809C>T	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	7.922	0.738829	0.15642	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.13778	2.56;2.56	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13286	0.0322	L	0.28694	0.88	0.21325	N	0.999723	P	0.34522	0.455	P	0.44811	0.461	T	0.33929	-0.9849	9	0.48119	T	0.1	.	4.869	0.13622	0.0:0.6041:0.3959:0.0	.	270	Q14593	ZN273_HUMAN	V	270;205	ENSP00000418719:A270V;ENSP00000324518:A205V	ENSP00000324518:A205V	A	+	2	0	ZNF273	64025950	0.000000	0.05858	0.046000	0.18839	0.046000	0.14306	-2.557000	0.00924	0.202000	0.20498	0.205000	0.17691	GCC		0.328	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			35	76	0	0	0	0	35	76				
GNAI1	2770	broad.mit.edu	37	7	79764544	79764544	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:79764544T>C	ENST00000351004.3	+	1	441	c.68T>C	c.(67-69)cTc>cCc	p.L23P	GNAI1_ENST00000490206.1_3'UTR|GNAI1_ENST00000457358.2_5'Flank	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	23					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GACCGCAACCTCCGTGAGGAC	0.731																																						uc003uhb.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(67-69)CTC>CCC		guanine nucleotide binding protein (G protein),							14.0	14.0	14.0					7																	79764544		2176	4284	6460	SO:0001583	missense	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79764544T>C	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.68T>C	7.37:g.79764544T>C	ENSP00000343027:p.Leu23Pro					GNAI1_uc011kgt.1_5'Flank	p.L23P	NM_002069	NP_002060	P63096	GNAI1_HUMAN			1	405	+			23					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	ENST00000351004.3	37	c.68T>C	CCDS5595.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.776616	0.90195	.	.	ENSG00000127955	ENST00000351004	D	0.89552	-2.53	3.91	3.91	0.45181	.	0.000000	0.64402	U	0.000002	D	0.94807	0.8323	M	0.92738	3.34	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	D	0.95444	0.8528	9	.	.	.	.	11.6898	0.51508	0.0:0.0:0.0:1.0	.	23	P63096	GNAI1_HUMAN	P	23	ENSP00000343027:L23P	.	L	+	2	0	GNAI1	79602480	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.302000	0.78861	1.631000	0.50456	0.372000	0.22366	CTC		0.731	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		9	12	0	0	0	0	9	12				
GNAT3	346562	broad.mit.edu	37	7	80091924	80091924	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:80091924C>G	ENST00000398291.3	-	6	707	c.614G>C	c.(613-615)aGa>aCa	p.R205T	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	205					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TCTCTCAGATCTCTGTCCACC	0.373																																						uc011kgu.1		NA																	0				ovary(1)	1						c.(613-615)AGA>ACA		guanine nucleotide binding protein, alpha							109.0	103.0	105.0					7																	80091924		2016	4226	6242	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80091924C>G		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.614G>C	7.37:g.80091924C>G	ENSP00000381339:p.Arg205Thr					CD36_uc003uhc.2_Intron	p.R205T	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			6	614	-			205					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.614G>C	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586325	0.86851	.	.	ENSG00000214415	ENST00000398291	D	0.92099	-2.97	5.3	5.3	0.74995	.	0.000000	0.85682	U	0.000000	D	0.97340	0.9130	H	0.96142	3.775	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.98364	1.0550	9	.	.	.	.	19.3243	0.94254	0.0:1.0:0.0:0.0	.	205	A8MTJ3	GNAT3_HUMAN	T	205	ENSP00000381339:R205T	.	R	-	2	0	GNAT3	79929860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.627000	0.88993	0.655000	0.94253	AGA		0.373	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		5	101	0	0	0	0	5	101				
ABCB1	5243	broad.mit.edu	37	7	87214929	87214929	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:87214929C>T	ENST00000265724.3	-	5	602	c.185G>A	c.(184-186)gGg>gAg	p.G62E	ABCB1_ENST00000543898.1_Missense_Mutation_p.G62E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	62	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AAGTCCAGCCCCATGGATGAT	0.393																																						uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(184-186)GGG>GAG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						93.0	94.0	94.0					7																	87214929		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87214929C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.185G>A	7.37:g.87214929C>T	ENSP00000265724:p.Gly62Glu					ABCB1_uc011khc.1_Missense_Mutation_p.G62E	p.G62E	NM_000927	NP_000918	P08183	MDR1_HUMAN			5	603	-	Esophageal squamous(14;0.00164)		62			ABC transmembrane type-1 1.|Helical; (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.185G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842775	0.32606	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	T;T	0.80480	-1.38;-1.38	5.72	5.72	0.89469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93377	0.7888	H	0.97440	4.005	0.43913	D	0.996554	D;D	0.89917	1.0;1.0	D;D	0.97110	0.969;1.0	D	0.95173	0.8292	10	0.87932	D	0	-22.2302	15.3886	0.74723	0.0:1.0:0.0:0.0	.	62;62	B5AK60;P08183	.;MDR1_HUMAN	E	62	ENSP00000265724:G62E;ENSP00000444095:G62E	ENSP00000265724:G62E	G	-	2	0	ABCB1	87052865	1.000000	0.71417	0.928000	0.36995	0.477000	0.33069	3.949000	0.56668	2.700000	0.92200	0.563000	0.77884	GGG		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		26	58	0	0	0	0	26	58				
STAG3	10734	broad.mit.edu	37	7	99778218	99778218	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:99778218G>C	ENST00000426455.1	+	2	446	c.39G>C	c.(37-39)aaG>aaC	p.K13N	STAG3_ENST00000394018.2_Missense_Mutation_p.K13N|STAG3_ENST00000317296.5_Missense_Mutation_p.K13N	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	13					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGATACCAAGAGGGCCTTGT	0.522																																						uc003utx.1		NA																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(37-39)AAG>AAC		stromal antigen 3							206.0	190.0	196.0					7																	99778218		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99778218G>C	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.39G>C	7.37:g.99778218G>C	ENSP00000400359:p.Lys13Asn					STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Missense_Mutation_p.K13N	p.K13N	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			2	194	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		13					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.39G>C	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409636	0.25465	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000416412;ENST00000339784;ENST00000317296;ENST00000422690;ENST00000439782	T;T;T	0.23754	1.91;1.89;1.91	4.15	1.16	0.20824	.	2.303890	0.01895	N	0.038848	T	0.22742	0.0549	L	0.36672	1.1	0.09310	N	1	B;B	0.17038	0.02;0.012	B;B	0.12156	0.005;0.007	T	0.21381	-1.0247	10	0.48119	T	0.1	3.7914	6.0857	0.19966	0.1052:0.3714:0.5234:0.0	.	13;13	B4DZ10;Q9UJ98	.;STAG3_HUMAN	N	13	ENSP00000400359:K13N;ENSP00000377586:K13N;ENSP00000319318:K13N	ENSP00000319318:K13N	K	+	3	2	STAG3	99616154	0.049000	0.20398	0.000000	0.03702	0.008000	0.06430	0.514000	0.22786	0.126000	0.18424	0.313000	0.20887	AAG		0.522	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		135	276	0	0	0	0	135	276				
MUC17	140453	broad.mit.edu	37	7	100678729	100678729	+	Silent	SNP	C	C	G	rs200539443		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:100678729C>G	ENST00000306151.4	+	3	4096	c.4032C>G	c.(4030-4032)gtC>gtG	p.V1344V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1344	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTATACCTGTCAACACCACAC	0.458																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4030-4032)GTC>GTG		mucin 17 precursor							228.0	225.0	226.0					7																	100678729		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678729C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4032C>G	7.37:g.100678729C>G						MUC17_uc010lho.1_RNA	p.V1344V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4085	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1344			Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.4032C>G	CCDS34711.1																																																																																				0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		134	293	0	0	0	0	134	293				
FBXL13	222235	broad.mit.edu	37	7	102665558	102665558	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:102665558C>G	ENST00000313221.4	-	6	873	c.447G>C	c.(445-447)gaG>gaC	p.E149D	FBXL13_ENST00000393772.2_Missense_Mutation_p.E149D|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379308.3_Missense_Mutation_p.E149D|FBXL13_ENST00000379306.3_Missense_Mutation_p.E149D|FBXL13_ENST00000379305.3_Missense_Mutation_p.E149D|FBXL13_ENST00000455112.2_Missense_Mutation_p.E149D|FBXL13_ENST00000456695.1_Missense_Mutation_p.E149D|FBXL13_ENST00000436908.1_Missense_Mutation_p.E149D	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	149								p.E149E(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ATTTTAGAGTCTCATCTACAA	0.333																																						uc003vaq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(445-447)GAG>GAC		F-box and leucine-rich repeat protein 13 isoform							57.0	56.0	56.0					7																	102665558		2202	4297	6499	SO:0001583	missense	222235							g.chr7:102665558C>G	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.447G>C	7.37:g.102665558C>G	ENSP00000321927:p.Glu149Asp					FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Missense_Mutation_p.E149D|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.E149D|FBXL13_uc003vav.2_RNA	p.E149D	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			6	874	-			149					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.447G>C	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	3.849	-0.032179	0.07543	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.08102	3.33;3.32;3.13;3.33;3.3;3.3;3.13;3.32	4.02	-3.08	0.05347	.	2.166030	0.02363	N	0.077047	T	0.05777	0.0151	L	0.36672	1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.32428	-0.9907	10	0.14252	T	0.57	.	0.7578	0.01001	0.2717:0.2349:0.303:0.1904	.	149;149;149	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	D	149;149;149;76;149;149;149;149;149	ENSP00000377367:E149D;ENSP00000368610:E149D;ENSP00000368608:E149D;ENSP00000368607:E149D;ENSP00000388608:E149D;ENSP00000321927:E149D;ENSP00000409716:E149D;ENSP00000391550:E149D	ENSP00000321927:E149D	E	-	3	2	FBXL13	102452794	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.259000	0.02861	-0.854000	0.04131	-1.086000	0.02197	GAG		0.333	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		6	36	0	0	0	0	6	36				
KMT2E	55904	broad.mit.edu	37	7	104702697	104702697	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:104702697C>T	ENST00000311117.3	+	4	703	c.158C>T	c.(157-159)tCa>tTa	p.S53L	KMT2E_ENST00000257745.4_Missense_Mutation_p.S53L|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Missense_Mutation_p.S53L|KMT2E_ENST00000476671.1_Missense_Mutation_p.S53L	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	53					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)										TCACATCATTCACACAGTTAC	0.398																																						uc003vcm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(157-159)TCA>TTA		myeloid/lymphoid or mixed-lineage leukemia 5							164.0	151.0	155.0					7																	104702697		2203	4300	6503	SO:0001583	missense	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.chr7:104702697C>T	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.158C>T	7.37:g.104702697C>T	ENSP00000312379:p.Ser53Leu					MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.S53L|MLL5_uc003vcl.2_Missense_Mutation_p.S53L|MLL5_uc010ljc.2_Missense_Mutation_p.S53L	p.S53L	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			4	692	+			53					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.158C>T	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308989	0.95629	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000495267;ENST00000476671;ENST00000474203	D;D;D;T;D	0.94497	-3.14;-2.7;-3.14;1.35;-3.44	5.9	5.9	0.94986	.	0.137689	0.51477	D	0.000098	D	0.96059	0.8716	L	0.40543	1.245	0.80722	D	1	D;D	0.64830	0.994;0.992	D;D	0.74348	0.983;0.974	D	0.95985	0.8981	10	0.62326	D	0.03	.	20.2786	0.98501	0.0:1.0:0.0:0.0	.	53;53	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	L	53	ENSP00000312379:S53L;ENSP00000335599:S53L;ENSP00000257745:S53L;ENSP00000420415:S53L;ENSP00000417888:S53L	ENSP00000257745:S53L	S	+	2	0	MLL5	104489933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.752000	0.85141	2.799000	0.96334	0.650000	0.86243	TCA		0.398	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			59	221	0	0	0	0	59	221				
PIK3CG	5294	broad.mit.edu	37	7	106509918	106509918	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:106509918G>C	ENST00000359195.3	+	2	2222	c.1912G>C	c.(1912-1914)Gaa>Caa	p.E638Q	PIK3CG_ENST00000440650.2_Missense_Mutation_p.E638Q|PIK3CG_ENST00000496166.1_Missense_Mutation_p.E638Q	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	638	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTTCTCAGATGAAAATGTAAG	0.463																																						uc003vdv.3		NA																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1912-1914)GAA>CAA		phosphoinositide-3-kinase, catalytic, gamma							53.0	52.0	52.0					7																	106509918		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509918G>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1912G>C	7.37:g.106509918G>C	ENSP00000352121:p.Glu638Gln					PIK3CG_uc003vdu.2_Missense_Mutation_p.E638Q|PIK3CG_uc003vdw.2_Missense_Mutation_p.E638Q	p.E638Q	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1997	+			638					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1912G>C	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981512	0.53827	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.63417	-0.04;-0.04;-0.04	5.54	5.54	0.83059	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.200224	0.51477	D	0.000082	T	0.57227	0.2039	L	0.33624	1.015	0.58432	D	0.999999	B	0.32467	0.372	B	0.39771	0.309	T	0.50591	-0.8810	10	0.10902	T	0.67	-27.0916	19.5024	0.95100	0.0:0.0:1.0:0.0	.	638	P48736	PK3CG_HUMAN	Q	638	ENSP00000392258:E638Q;ENSP00000419260:E638Q;ENSP00000352121:E638Q	ENSP00000352121:E638Q	E	+	1	0	PIK3CG	106297154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.571000	0.82399	2.607000	0.88179	0.655000	0.94253	GAA		0.463	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			3	110	0	0	0	0	3	110				
ASZ1	136991	broad.mit.edu	37	7	117060270	117060270	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:117060270C>T	ENST00000284629.2	-	4	449	c.387G>A	c.(385-387)ttG>ttA	p.L129L		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTACACACTTCAAGATCTGTT	0.338																																						uc003vjb.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(385-387)TTG>TTA		ankyrin repeat, SAM and basic leucine zipper							103.0	101.0	102.0					7																	117060270		2203	4299	6502	SO:0001819	synonymous_variant	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117060270C>T	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.387G>A	7.37:g.117060270C>T						ASZ1_uc011kno.1_Silent_p.L129L|ASZ1_uc011knp.1_5'UTR	p.L129L	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		4	450	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		129			ANK 3.			Silent	SNP	ENST00000284629.2	37	c.387G>A	CCDS5772.1																																																																																				0.338	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		18	120	0	0	0	0	18	120				
CFTR	1080	broad.mit.edu	37	7	117232003	117232003	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:117232003G>A	ENST00000003084.6	+	14	1914	c.1782G>A	c.(1780-1782)ctG>ctA	p.L594L	CFTR_ENST00000454343.1_Silent_p.L533L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	594	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TCTGTAAACTGATGGCTAACA	0.259									Cystic Fibrosis																													uc003vjd.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1780-1782)CTG>CTA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						36.0	43.0	40.0					7																	117232003		2166	4283	6449	SO:0001819	synonymous_variant	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232003G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1782G>A	7.37:g.117232003G>A						CFTR_uc011knq.1_5'UTR	p.L594L	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	1914	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		594			Cytoplasmic (Potential).|ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	c.1782G>A	CCDS5773.1																																																																																				0.259	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		12	108	0	0	0	0	12	108				
UBN2	254048	broad.mit.edu	37	7	138969091	138969091	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:138969091C>G	ENST00000473989.3	+	15	3440	c.3440C>G	c.(3439-3441)tCa>tGa	p.S1147*	UBN2_ENST00000288561.8_Nonsense_Mutation_p.S1064*	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1147	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGGCCCCCTCAAAGCTAACA	0.473																																						uc011kqr.1		NA																	0				ovary(1)|skin(1)	2						c.(3439-3441)TCA>TGA		ubinuclein 2							68.0	68.0	68.0					7																	138969091		1921	4133	6054	SO:0001587	stop_gained	254048							g.chr7:138969091C>G	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3440C>G	7.37:g.138969091C>G	ENSP00000418648:p.Ser1147*						p.S1147*	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			15	3440	+			1147			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Nonsense_Mutation	SNP	ENST00000473989.3	37	c.3440C>G	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	42	9.458108	0.99177	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	.	.	.	5.51	5.51	0.81932	.	0.111165	0.41001	D	0.000977	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-1.6245	19.7923	0.96464	0.0:1.0:0.0:0.0	.	.	.	.	X	1147;1064	.	ENSP00000288561:S1064X	S	+	2	0	UBN2	138619631	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.317000	0.65822	2.752000	0.94435	0.557000	0.71058	TCA		0.473	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		3	93	0	0	0	0	3	93				
CUL1	8454	broad.mit.edu	37	7	148485666	148485666	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:148485666G>C	ENST00000325222.4	+	14	1776	c.1497G>C	c.(1495-1497)gaG>gaC	p.E499D	CUL1_ENST00000409469.1_Missense_Mutation_p.E499D|CUL1_ENST00000602748.1_Missense_Mutation_p.E499D	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	499					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCGGGTTCGAGTACACCTCTA	0.398																																						uc010lpg.2		NA																	0				lung(1)	1						c.(1495-1497)GAG>GAC		cullin 1							112.0	106.0	108.0					7																	148485666		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148485666G>C	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1497G>C	7.37:g.148485666G>C	ENSP00000326804:p.Glu499Asp					CUL1_uc003wey.2_Missense_Mutation_p.E499D|CUL1_uc003wez.2_Missense_Mutation_p.E389D|CUL1_uc003wfa.2_Missense_Mutation_p.E160D	p.E499D	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		14	2023	+	Melanoma(164;0.15)		499					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1497G>C	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189432	0.78789	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.74842	-0.88;-0.88	5.39	3.51	0.40186	Cullin, N-terminal (1);Cullin homology (3);	0.095085	0.64402	D	0.000001	D	0.82917	0.5141	M	0.70108	2.13	0.80722	D	1	B;D	0.76494	0.293;0.999	B;D	0.87578	0.136;0.998	T	0.83261	-0.0048	10	0.59425	D	0.04	-5.3722	9.6742	0.40030	0.2767:0.0:0.7233:0.0	.	426;499	E7EWR0;Q13616	.;CUL1_HUMAN	D	499;499;457;426	ENSP00000387160:E499D;ENSP00000326804:E499D	ENSP00000326804:E499D	E	+	3	2	CUL1	148116599	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.401000	0.34589	1.341000	0.45600	0.650000	0.86243	GAG		0.398	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		60	120	0	0	0	0	60	120				
GALNTL5	168391	broad.mit.edu	37	7	151684344	151684344	+	Silent	SNP	G	G	C	rs140077291		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr7:151684344G>C	ENST00000392800.2	+	5	890	c.636G>C	c.(634-636)ctG>ctC	p.L212L	GALNTL5_ENST00000431418.2_Silent_p.L212L	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	212	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GAGCAAGGCTGATTGGAGCTT	0.468																																						uc003wkp.2		NA																	0				ovary(2)	2						c.(634-636)CTG>CTC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							82.0	82.0	82.0					7																	151684344		2203	4300	6503	SO:0001819	synonymous_variant	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151684344G>C	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.636G>C	7.37:g.151684344G>C						GALNTL5_uc003wkq.2_Intron|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Silent_p.L101L	p.L212L	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	5	859	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	212			Catalytic subdomain A.|Lumenal (Potential).		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Silent	SNP	ENST00000392800.2	37	c.636G>C	CCDS5929.1																																																																																				0.468	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		22	69	0	0	0	0	22	69				
NEIL2	252969	broad.mit.edu	37	8	11643525	11643525	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:11643525C>G	ENST00000284503.6	+	5	1341	c.742C>G	c.(742-744)Ctc>Gtc	p.L248V	NEIL2_ENST00000528323.1_Missense_Mutation_p.L132V|NEIL2_ENST00000403422.3_Missense_Mutation_p.L187V|NEIL2_ENST00000436750.3_Missense_Mutation_p.L248V|NEIL2_ENST00000455213.2_Missense_Mutation_p.L248V	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	248					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TCCCCTTTCTCTCGGTTCAGT	0.552								Base excision repair (BER), DNA glycosylases																														uc003wug.2		NA																	0					0						c.(742-744)CTC>GTC	BER_DNA_glycosylases	nei like 2 isoform a							170.0	180.0	176.0					8																	11643525		2203	4300	6503	SO:0001583	missense	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11643525C>G	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.742C>G	8.37:g.11643525C>G	ENSP00000284503:p.Leu248Val					NEIL2_uc003wue.2_Missense_Mutation_p.L248V|NEIL2_uc003wuf.2_Missense_Mutation_p.L187V|NEIL2_uc011kxd.1_Missense_Mutation_p.L132V	p.L248V	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	5	1417	+	all_epithelial(15;0.103)		248					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Missense_Mutation	SNP	ENST00000284503.6	37	c.742C>G	CCDS5984.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485622	0.26686	.	.	ENSG00000154328	ENST00000455213;ENST00000403422;ENST00000528323;ENST00000436750;ENST00000284503;ENST00000382309	T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53	5.34	4.45	0.53987	DNA glycosylase/AP lyase, H2TH DNA-binding (1);Ribosomal protein S13-like, H2TH (1);	0.329841	0.31859	N	0.006951	T	0.23766	0.0575	L	0.41124	1.26	0.09310	N	1	D;D	0.62365	0.991;0.969	P;P	0.62491	0.903;0.735	T	0.04153	-1.0973	10	0.28530	T	0.3	-6.4456	14.042	0.64681	0.0:0.9233:0.0:0.0767	.	132;248	B4DFR7;Q969S2	.;NEIL2_HUMAN	V	248;187;132;248;248;233	ENSP00000397538:L248V;ENSP00000384070:L187V;ENSP00000435657:L132V;ENSP00000394023:L248V;ENSP00000284503:L248V	ENSP00000284503:L248V	L	+	1	0	NEIL2	11680934	0.182000	0.23173	0.042000	0.18584	0.024000	0.10985	3.335000	0.52105	2.653000	0.90120	0.655000	0.94253	CTC		0.552	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		9	456	0	0	0	0	9	456				
KIAA1456	57604	broad.mit.edu	37	8	12878578	12878578	+	Silent	SNP	C	C	T	rs543130685		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:12878578C>T	ENST00000524591.2	+	5	879	c.390C>T	c.(388-390)gtC>gtT	p.V130V	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	130							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGGCCAGGGTCTTAGTTCCCG	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		20861	0.001		0.0	False		,,,				2504	0.0					uc010lsq.2		NA																	0					0						c.(388-390)GTC>GTT		hypothetical protein LOC57604 isoform 1							38.0	36.0	37.0					8																	12878578		1852	4095	5947	SO:0001819	synonymous_variant	57604						methyltransferase activity	g.chr8:12878578C>T	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.390C>T	8.37:g.12878578C>T						C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Silent_p.V43V|C8orf79_uc010lsr.2_Silent_p.V4V	p.V130V	NM_020844	NP_065895	Q9P272	K1456_HUMAN			5	882	+			130					Q96AW6	Silent	SNP	ENST00000524591.2	37	c.390C>T	CCDS47808.1																																																																																				0.418	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		3	20	0	0	0	0	3	20				
PCM1	5108	broad.mit.edu	37	8	17817912	17817912	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:17817912G>C	ENST00000519253.1	+	15	2532	c.2281G>C	c.(2281-2283)Gag>Cag	p.E761Q	PCM1_ENST00000524226.1_Missense_Mutation_p.E762Q|PCM1_ENST00000325083.8_Missense_Mutation_p.E761Q			Q15154	PCM1_HUMAN	pericentriolar material 1	761					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGACATTCAGGAGAAAATTCA	0.333			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	uc003wyi.3		NA		Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	0				haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(2281-2283)GAG>CAG		pericentriolar material 1							65.0	65.0	65.0					8																	17817912		1845	4084	5929	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17817912G>C		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2281G>C	8.37:g.17817912G>C	ENSP00000431099:p.Glu761Gln					PCM1_uc011kyh.1_Missense_Mutation_p.E761Q|PCM1_uc003wyj.3_Missense_Mutation_p.E762Q	p.E761Q	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	15	2703	+			761			Potential.		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.2281G>C		.	.	.	.	.	.	.	.	.	.	G	24.1	4.498255	0.85069	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.27890	3.63;1.64;1.64	4.85	4.85	0.62838	.	0.144445	0.64402	D	0.000008	T	0.48484	0.1502	L	0.46157	1.445	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.996	D;D;D	0.75484	0.986;0.961;0.986	T	0.20706	-1.0267	10	0.21540	T	0.41	-14.3814	18.8588	0.92264	0.0:0.0:1.0:0.0	.	761;762;761	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	Q	761;761;762	ENSP00000327077:E761Q;ENSP00000431099:E761Q;ENSP00000430521:E762Q	ENSP00000327077:E761Q	E	+	1	0	PCM1	17862192	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.773000	0.91762	2.608000	0.88229	0.650000	0.86243	GAG		0.333	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		27	63	0	0	0	0	27	63				
INTS10	55174	broad.mit.edu	37	8	19709251	19709251	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:19709251C>G	ENST00000397977.3	+	17	2466	c.2068C>G	c.(2068-2070)Ctg>Gtg	p.L690V		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	690					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGGAGAGAATCTGATGGTGGT	0.557																																						uc003wzj.2		NA																	0				ovary(1)	1						c.(2068-2070)CTG>GTG		integrator complex subunit 10							89.0	93.0	92.0					8																	19709251		2044	4188	6232	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19709251C>G	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.2068C>G	8.37:g.19709251C>G	ENSP00000381064:p.Leu690Val						p.L690V	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	17	2199	+			690					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.2068C>G	CCDS6011.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.06|14.06	2.421799|2.421799	0.43020|0.43020	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000523772|ENST00000397977;ENST00000520670	.|.	.|.	.|.	5.71|5.71	-8.46|-8.46	0.00942|0.00942	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61937|0.61937	0.2387|0.2387	L|L	0.34521|0.34521	1.04|1.04	0.33617|0.33617	D|D	0.604341|0.604341	.|D	.|0.67145	.|0.996	.|D	.|0.80764	.|0.994	T|T	0.70110|0.70110	-0.4962|-0.4962	5|8	.|.	.|.	.|.	-14.0483|-14.0483	23.8856|23.8856	0.99986|0.99986	0.0:0.8959:0.0:0.1041|0.0:0.8959:0.0:0.1041	.|.	.|690	.|Q9NVR2	.|INT10_HUMAN	M|V	152|690;94	.|.	.|.	I|L	+|+	3|1	3|2	INTS10|INTS10	19753531|19753531	0.357000|0.357000	0.24938|0.24938	0.010000|0.010000	0.14722|0.14722	0.803000|0.803000	0.45373|0.45373	0.208000|0.208000	0.17415|0.17415	-1.787000|-1.787000	0.01268|0.01268	-0.793000|-0.793000	0.03317|0.03317	ATC|CTG		0.557	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		18	120	0	0	0	0	18	120				
FGF17	8822	broad.mit.edu	37	8	21900473	21900473	+	Splice_Site	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:21900473C>G	ENST00000359441.3	+	1	537	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V	FGF17_ENST00000518533.1_Splice_Site_p.L12V	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	12					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		CAACCTCACTCTGTAAGTGTG	0.657																																						uc003xag.2		NA																	0					0						c.(34-36)CTG>GTG		fibroblast growth factor 17 precursor							69.0	54.0	59.0					8																	21900473		2203	4300	6503	SO:0001630	splice_region_variant	8822				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr8:21900473C>G	AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.35+1C>G	8.37:g.21900473C>G						FGF17_uc003xah.2_Missense_Mutation_p.L12V|FGF17_uc003xai.2_5'Flank	p.L12V	NM_003867	NP_003858	O60258	FGF17_HUMAN		Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)	1	46	+			12					B7ZLG4|Q2M2W1	Missense_Mutation	SNP	ENST00000359441.3	37	c.34C>G	CCDS6019.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310884	0.40895	.	.	ENSG00000158815	ENST00000518533;ENST00000359441	T;T	0.80033	-1.33;-1.04	5.06	3.17	0.36434	.	0.515547	0.17122	N	0.186162	T	0.70159	0.3192	L	0.48642	1.525	0.26252	N	0.978706	P;B	0.35493	0.505;0.371	B;B	0.22386	0.039;0.018	T	0.58244	-0.7670	10	0.40728	T	0.16	-8.65	11.7919	0.52073	0.0:0.6583:0.3416:0.0	.	12;12	O60258-2;O60258	.;FGF17_HUMAN	V	12	ENSP00000431041:L12V;ENSP00000352414:L12V	ENSP00000352414:L12V	L	+	1	2	FGF17	21956419	0.955000	0.32602	0.992000	0.48379	0.990000	0.78478	1.005000	0.29834	0.587000	0.29643	0.561000	0.74099	CTG		0.657	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214154.2	NM_003867	Missense_Mutation	11	16	0	0	0	0	11	16				
UNC5D	137970	broad.mit.edu	37	8	35631911	35631911	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:35631911G>T	ENST00000404895.2	+	16	2901	c.2573G>T	c.(2572-2574)aGa>aTa	p.R858I	UNC5D_ENST00000453357.2_Missense_Mutation_p.R853I|UNC5D_ENST00000449677.1_Missense_Mutation_p.R434I|UNC5D_ENST00000287272.2_Missense_Mutation_p.R789I|UNC5D_ENST00000420357.1_Missense_Mutation_p.R791I|UNC5D_ENST00000416672.1_Missense_Mutation_p.R863I	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	858					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TACTCCATCAGACAGCGGATT	0.473																																						uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2572-2574)AGA>ATA		unc-5 homolog D precursor							137.0	124.0	128.0					8																	35631911		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35631911G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2573G>T	8.37:g.35631911G>T	ENSP00000385143:p.Arg858Ile					UNC5D_uc003xjs.1_Missense_Mutation_p.R853I|UNC5D_uc003xju.1_Missense_Mutation_p.R434I	p.R858I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	16	2901	+			858			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2573G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	35	5.451081	0.96205	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	5.95	5.95	0.96441	Death (1);DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.60954	-0.7160	10	0.87932	D	0	-21.2108	20.4024	0.99000	0.0:0.0:1.0:0.0	.	434;853;858	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	I	858;791;789;863;853;434	ENSP00000385143:R858I;ENSP00000392739:R791I;ENSP00000287272:R789I;ENSP00000412652:R863I;ENSP00000394303:R853I;ENSP00000397211:R434I	ENSP00000287272:R789I	R	+	2	0	UNC5D	35751453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.000000	0.88501	2.827000	0.97445	0.650000	0.86243	AGA		0.473	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			32	83	1	0	1.31e-18	1.45e-18	32	83				
CPA6	57094	broad.mit.edu	37	8	68419035	68419035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:68419035C>T	ENST00000297770.4	-	6	838	c.623G>A	c.(622-624)tGg>tAg	p.W208*	CPA6_ENST00000518549.1_Nonsense_Mutation_p.W208*|CPA6_ENST00000297769.4_Nonsense_Mutation_p.W60*	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	208						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTTTACAAACCACTGACAAAA	0.403																																						uc003xxq.3		NA																	0				ovary(2)	2						c.(622-624)TGG>TAG		carboxypeptidase A6 isoform 1 precursor							158.0	140.0	146.0					8																	68419035		2203	4300	6503	SO:0001587	stop_gained	57094				proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr8:68419035C>T	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.623G>A	8.37:g.68419035C>T	ENSP00000297770:p.Trp208*					CPA6_uc003xxr.3_Nonsense_Mutation_p.W60*|CPA6_uc003xxs.2_Nonsense_Mutation_p.W208*	p.W208*	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)		6	879	-			208					Q8NEX8|Q8TDE8|Q9NRI9	Nonsense_Mutation	SNP	ENST00000297770.4	37	c.623G>A	CCDS6200.1	.	.	.	.	.	.	.	.	.	.	C	41	9.098671	0.99064	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7485	0.88427	0.0:1.0:0.0:0.0	.	.	.	.	X	60;208;208	.	ENSP00000297769:W60X	W	-	2	0	CPA6	68581589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.818000	0.62657	2.474000	0.83562	0.655000	0.94253	TGG		0.403	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379296.2	NM_020361		51	69	0	0	0	0	51	69				
PAG1	55824	broad.mit.edu	37	8	81905367	81905367	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:81905367G>A	ENST00000220597.4	-	4	806	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	32					epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGAAGATGAGGAAGGTGATGA	0.542																																						uc003ybz.2		NA																	0					0						c.(94-96)TTC>TTT		phosphoprotein associated with glycosphingolipid							95.0	88.0	90.0					8																	81905367		2203	4300	6503	SO:0001819	synonymous_variant	55824				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity	g.chr8:81905367G>A	AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.96C>T	8.37:g.81905367G>A							p.F32F	NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)		4	807	-	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		32			Helical; Signal-anchor for type III membrane protein; (Potential).		A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	Silent	SNP	ENST00000220597.4	37	c.96C>T	CCDS6227.1																																																																																				0.542	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379352.3	NM_018440		3	56	0	0	0	0	3	56				
KIAA1429	25962	broad.mit.edu	37	8	95507153	95507153	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:95507153C>T	ENST00000297591.5	-	20	4651	c.4576G>A	c.(4576-4578)Gat>Aat	p.D1526N	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1526					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCAACTGATCATCCATGACA	0.318																																						uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.(4576-4578)GAT>AAT		hypothetical protein LOC25962 isoform 1							130.0	138.0	135.0					8																	95507153		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95507153C>T	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4576G>A	8.37:g.95507153C>T	ENSP00000297591:p.Asp1526Asn					KIAA1429_uc010maz.1_RNA	p.D1526N	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		20	4589	-	Breast(36;3.29e-05)		1526					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.4576G>A	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550367	0.86127	.	.	ENSG00000164944	ENST00000297591	T	0.46063	0.88	5.16	5.16	0.70880	.	0.055974	0.64402	D	0.000001	T	0.33059	0.0850	N	0.19112	0.55	0.80722	D	1	B	0.34290	0.447	B	0.33254	0.16	T	0.25847	-1.0120	10	0.62326	D	0.03	-16.8599	19.0186	0.92903	0.0:1.0:0.0:0.0	.	1526	Q69YN4	VIR_HUMAN	N	1526	ENSP00000297591:D1526N	ENSP00000297591:D1526N	D	-	1	0	KIAA1429	95576329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.247000	0.78257	2.579000	0.87056	0.650000	0.86243	GAT		0.318	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		32	359	0	0	0	0	32	359				
CSMD3	114788	broad.mit.edu	37	8	113358362	113358362	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:113358362C>G	ENST00000297405.5	-	41	6650	c.6406G>C	c.(6406-6408)Gat>Cat	p.D2136H	CSMD3_ENST00000352409.3_Missense_Mutation_p.D2066H|CSMD3_ENST00000343508.3_Missense_Mutation_p.D2096H|CSMD3_ENST00000455883.2_Missense_Mutation_p.D2032H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2136	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGTGCAATCTAAACTGCTG	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6406-6408)GAT>CAT		CUB and Sushi multiple domains 3 isoform 1							114.0	116.0	115.0					8																	113358362		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113358362C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6406G>C	8.37:g.113358362C>G	ENSP00000297405:p.Asp2136His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.D1338H|CSMD3_uc003ynt.2_Missense_Mutation_p.D2096H|CSMD3_uc011lhx.1_Missense_Mutation_p.D2032H	p.D2136H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			41	6565	-			2136			Extracellular (Potential).|CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6406G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837825	0.91117	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	5.54	5.54	0.83059	CUB (5);	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	M	0.79805	2.47	0.80722	D	1	D;P;D	0.89917	1.0;0.948;1.0	D;D;D	0.97110	1.0;0.958;0.996	T	0.49000	-0.8984	10	0.51188	T	0.08	.	19.6745	0.95926	0.0:1.0:0.0:0.0	.	2032;2136;2096	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	2096;2136;1406;2032;2066	ENSP00000345799:D2096H;ENSP00000297405:D2136H;ENSP00000341558:D1406H;ENSP00000412263:D2032H;ENSP00000343124:D2066H	ENSP00000297405:D2136H	D	-	1	0	CSMD3	113427538	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.617000	0.83032	2.880000	0.98712	0.650000	0.86243	GAT		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	234	0	0	0	0	4	234				
EEF1D	1936	broad.mit.edu	37	8	144659478	144659478	+	IGR	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:144659478C>T	ENST00000529272.1	-	0	1311				NAPRT1_ENST00000276844.7_Missense_Mutation_p.D177N|NAPRT1_ENST00000435154.3_Missense_Mutation_p.D177N|RP11-661A12.9_ENST00000531730.1_RNA|RP11-661A12.7_ENST00000529247.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.D177N|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000449291.2_Missense_Mutation_p.D177N			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGGCCCCCATCGGGGCCCTGA	0.692																																						uc003yym.3		NA																	0				ovary(1)	1						c.(529-531)GAT>AAT		nicotinate phosphoribosyltransferase domain							8.0	12.0	11.0					8																	144659478		2171	4274	6445	SO:0001628	intergenic_variant	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144659478C>T	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191		8.37:g.144659478C>T						NAPRT1_uc003yyn.3_Missense_Mutation_p.D177N|NAPRT1_uc011lkh.1_Missense_Mutation_p.D177N|NAPRT1_uc003yyo.3_Missense_Mutation_p.D177N	p.D177N	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	554	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		177					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.529G>A	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951519	0.53186	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.52526	0.69;0.7;0.66;0.72;0.69	4.84	3.96	0.45880	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.047976	0.85682	N	0.000000	T	0.67002	0.2847	M	0.77486	2.375	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;P;D;D	0.79784	0.993;0.88;0.989;0.993	T	0.69986	-0.4996	10	0.54805	T	0.06	-20.9699	12.3068	0.54906	0.0:0.9179:0.0:0.0821	.	177;177;177;177	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	N	177	ENSP00000405670:D177N;ENSP00000401508:D177N;ENSP00000341136:D177N;ENSP00000390949:D177N;ENSP00000276844:D177N	ENSP00000276844:D177N	D	-	1	0	NAPRT1	144730621	0.935000	0.31712	0.097000	0.21041	0.036000	0.12997	2.170000	0.42443	1.256000	0.44068	-0.140000	0.14226	GAT		0.692	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		16	4	0	0	0	0	16	4				
JAK2	3717	broad.mit.edu	37	9	5029862	5029862	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:5029862C>T	ENST00000381652.3	+	4	800	c.306C>T	c.(304-306)ttC>ttT	p.F102F	JAK2_ENST00000539801.1_Silent_p.F102F	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	102	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACCATGTCTTCCATATAGATG	0.363		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	0				haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(304-306)TTC>TTT		Janus kinase 2							178.0	172.0	174.0					9																	5029862		2203	4300	6503	SO:0001819	synonymous_variant	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5029862C>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.306C>T	9.37:g.5029862C>T						JAK2_uc003ziw.2_Silent_p.F102F	p.F102F	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	3	419	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	102			Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM.		O14636|O75297	Silent	SNP	ENST00000381652.3	37	c.306C>T	CCDS6457.1																																																																																				0.363	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			24	252	0	0	0	0	24	252				
C9orf131	138724	broad.mit.edu	37	9	35044713	35044713	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:35044713C>T	ENST00000312292.5	+	2	2134	c.2087C>T	c.(2086-2088)cCa>cTa	p.P696L	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.P648L|C9orf131_ENST00000354479.5_Missense_Mutation_p.P623L	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	696										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACTCCTCTACCAGAGCCACAC	0.552																																						uc003zvw.2		NA																	0					0						c.(2086-2088)CCA>CTA		hypothetical protein LOC138724 isoform A							54.0	52.0	52.0					9																	35044713		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35044713C>T	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2087C>T	9.37:g.35044713C>T	ENSP00000308279:p.Pro696Leu					C9orf131_uc003zvu.2_Missense_Mutation_p.P648L|C9orf131_uc003zvv.2_Missense_Mutation_p.P623L|C9orf131_uc003zvx.2_Missense_Mutation_p.P661L	p.P696L	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2116	+	all_epithelial(49;0.22)		696					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2087C>T	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924941	0.34002	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.16597	2.33;2.33;2.34	4.04	0.438	0.16560	.	0.919861	0.09057	N	0.854975	T	0.12944	0.0314	L	0.41710	1.295	0.09310	N	1	B;B;B;B	0.14805	0.011;0.011;0.011;0.011	B;B;B;B	0.14578	0.011;0.011;0.011;0.011	T	0.36065	-0.9763	10	0.72032	D	0.01	0.1679	3.1678	0.06541	0.3097:0.4714:0.0:0.2189	.	171;696;623;648	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	L	648;623;696;171	ENSP00000393683:P648L;ENSP00000346472:P623L;ENSP00000308279:P696L	ENSP00000308279:P696L	P	+	2	0	C9orf131	35034713	0.005000	0.15991	0.002000	0.10522	0.615000	0.37417	0.412000	0.21131	0.076000	0.16826	0.655000	0.94253	CCA		0.552	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		14	84	0	0	0	0	14	84				
TLN1	7094	broad.mit.edu	37	9	35720452	35720452	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:35720452C>G	ENST00000314888.9	-	12	1614	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E421Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	421	Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTGAGTCCTCCAGCATAGTA	0.488																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(1261-1263)GAG>CAG		talin 1							219.0	221.0	220.0					9																	35720452		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35720452C>G	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1261G>C	9.37:g.35720452C>G	ENSP00000316029:p.Glu421Gln						p.E421Q	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		12	1615	-	all_epithelial(49;0.167)		421			Interaction with LAYN (By similarity).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.1261G>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	35	5.414399	0.96092	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.72615	-0.66;-0.67	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.86451	0.5936	M	0.85462	2.755	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.87543	0.2460	10	0.87932	D	0	-29.613	20.1577	0.98120	0.0:1.0:0.0:0.0	.	421	Q9Y490	TLN1_HUMAN	Q	421	ENSP00000316029:E421Q;ENSP00000442981:E421Q	ENSP00000316029:E421Q	E	-	1	0	TLN1	35710452	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	GAG		0.488	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		44	461	0	0	0	0	44	461				
POLR1E	64425	broad.mit.edu	37	9	37503070	37503070	+	Silent	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:37503070G>A	ENST00000377798.4	+	12	1244	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	POLR1E_ENST00000442009.2_Silent_p.L307L|POLR1E_ENST00000377792.3_Silent_p.L439L	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CCATGAGGCTGAAGATCTCCA	0.542																																					Ovarian(116;843 1620 18506 32459 34463)	uc003zzz.1		NA																	0					0						c.(1315-1317)CTG>CTA		RNA polymerase I associated factor 53							116.0	123.0	121.0					9																	37503070		2203	4300	6503	SO:0001819	synonymous_variant	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37503070G>A	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.1131G>A	9.37:g.37503070G>A						POLR1E_uc003zzy.1_Silent_p.L377L|POLR1E_uc011lqk.1_Silent_p.L306L|uc004aaa.2_5'Flank	p.L439L	NM_022490	NP_071935	Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	11	1605	+			439					O75395|Q5JTE3	Silent	SNP	ENST00000377798.4	37	c.1317G>A	CCDS6611.1																																																																																				0.542	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490		41	201	0	0	0	0	41	201				
SPATA31D1	389763	broad.mit.edu	37	9	84606906	84606906	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:84606906C>G	ENST00000344803.2	+	4	1568	c.1521C>G	c.(1519-1521)ctC>ctG	p.L507L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	507					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTGGGGTCTCCCATCTTTGC	0.438																																						uc004amn.2		NA																	0					0						c.(1519-1521)CTC>CTG		hypothetical protein LOC389763							75.0	70.0	71.0					9																	84606906		1962	4167	6129	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84606906C>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1521C>G	9.37:g.84606906C>G							p.L507L	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1568	+			507						Silent	SNP	ENST00000344803.2	37	c.1521C>G	CCDS47986.1																																																																																				0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		30	83	0	0	0	0	30	83				
S1PR3	1903	broad.mit.edu	37	9	91617111	91617111	+	Silent	SNP	C	C	T	rs138808274		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:91617111C>T	ENST00000375846.3	+	1	5691	c.996C>T	c.(994-996)ctC>ctT	p.L332L	S1PR3_ENST00000358157.2_Silent_p.L332L			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	332					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						AGCCTGCGCTCGACCCAAGCA	0.632																																						uc004aqe.2		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(994-996)CTC>CTT		sphingosine-1-phosphate receptor 3		C		1,4405	2.1+/-5.4	0,1,2202	52.0	58.0	56.0		996	-10.3	0.0	9	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous	S1PR3	NM_005226.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		332/379	91617111	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1903				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr9:91617111C>T	AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.996C>T	9.37:g.91617111C>T							p.L332L	NM_005226	NP_005217	Q99500	S1PR3_HUMAN			2	1392	+			332			Cytoplasmic (By similarity).		Q5SQD8|Q7Z5I2	Silent	SNP	ENST00000375846.3	37	c.996C>T	CCDS6680.1																																																																																				0.632	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226		6	79	0	0	0	0	6	79				
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483																																						uc010msg.2		NA																	0				ovary(1)	1						c.(577-579)CGC>TGC		hyaluronan binding protein 4							101.0	114.0	109.0					9																	99227683		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99227683C>T	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.577C>T	9.37:g.99227683C>T	ENSP00000364398:p.Arg193Cys					HABP4_uc010msh.2_Intron	p.R193C	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN			3	725	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	193						Missense_Mutation	SNP	ENST00000375249.4	37	c.577C>T	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837388	0.50951	.	.	ENSG00000130956	ENST00000375249	T	0.37752	1.18	4.86	2.77	0.32553	.	0.269438	0.30538	N	0.009418	T	0.42381	0.1200	L	0.43923	1.385	0.49213	D	0.999769	D	0.71674	0.998	P	0.53185	0.72	T	0.40515	-0.9559	10	0.72032	D	0.01	-7.7391	14.0166	0.64527	0.4686:0.5314:0.0:0.0	.	193	Q5JVS0	HABP4_HUMAN	C	193	ENSP00000364398:R193C	ENSP00000364398:R193C	R	+	1	0	HABP4	98267504	1.000000	0.71417	0.350000	0.25708	0.389000	0.30415	1.202000	0.32271	0.558000	0.29135	0.644000	0.83932	CGC		0.483	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	NM_014282		6	290	0	0	0	0	6	290				
TRIM14	9830	broad.mit.edu	37	9	100862396	100862396	+	Silent	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:100862396G>C	ENST00000341469.2	-	3	363	c.354C>G	c.(352-354)ctC>ctG	p.L118L	TRIM14_ENST00000375098.3_Silent_p.L118L|TRIM14_ENST00000342043.3_Silent_p.L118L	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	118					innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GTAGTAATCTGAGTTCAGTGA	0.443																																					Colon(14;460 597 13826 51781)	uc004ayd.2		NA																	0				central_nervous_system(1)	1						c.(352-354)CTC>CTG		tripartite motif protein TRIM14 isoform alpha							117.0	110.0	113.0					9																	100862396		2203	4300	6503	SO:0001819	synonymous_variant	9830					cytoplasm|intracellular	zinc ion binding	g.chr9:100862396G>C	AF220130	CCDS6734.1	9q31.1	2011-04-20	2011-01-25		ENSG00000106785	ENSG00000106785		"""Tripartite motif containing / Tripartite motif containing"""	16283	protein-coding gene	gene with protein product		606556	"""tripartite motif-containing 14"""			11331580	Standard	XM_005252320		Approved	KIAA0129	uc004ayd.2	Q14142	OTTHUMG00000020339	ENST00000341469.2:c.354C>G	9.37:g.100862396G>C						TRIM14_uc004ayf.1_Silent_p.L25L|TRIM14_uc004ayg.1_Silent_p.L118L|TRIM14_uc004ayh.1_Silent_p.L118L|TRIM14_uc004ayi.1_Silent_p.L118L|TRIM14_uc004ayj.1_Silent_p.L25L	p.L118L	NM_033220	NP_150089	Q14142	TRI14_HUMAN			3	372	-		Acute lymphoblastic leukemia(62;0.0559)	118					A8K9W0|E7EQC4|F8W956|Q548W9|Q5TBQ8|Q6ZWL7|Q9BRD8|Q9C020	Silent	SNP	ENST00000341469.2	37	c.354C>G	CCDS6734.1																																																																																				0.443	TRIM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053350.1	NM_014788		48	238	0	0	0	0	48	238				
ANKS6	203286	broad.mit.edu	37	9	101540657	101540657	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:101540657T>C	ENST00000353234.4	-	7	1465	c.1418A>G	c.(1417-1419)cAg>cGg	p.Q473R	ANKS6_ENST00000540940.1_Missense_Mutation_p.Q278R|ANKS6_ENST00000375019.2_Missense_Mutation_p.Q172R|ANKS6_ENST00000375018.1_Missense_Mutation_p.Q473R			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	473						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGGCAGCGTCTGCATCAGTTT	0.587																																						uc004ayu.2		NA																	0				ovary(2)	2						c.(1417-1419)CAG>CGG		ankyrin repeat and sterile alpha motif domain							42.0	50.0	47.0					9																	101540657		2079	4213	6292	SO:0001583	missense	203286							g.chr9:101540657T>C	AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.1418A>G	9.37:g.101540657T>C	ENSP00000297837:p.Gln473Arg					ANKS6_uc004ayt.2_Missense_Mutation_p.Q172R|ANKS6_uc004ayv.1_5'Flank|ANKS6_uc004ayw.1_Missense_Mutation_p.Q55R|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	p.Q473R	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN			7	1439	-		Acute lymphoblastic leukemia(62;0.0527)	473					A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	ENST00000353234.4	37	c.1418A>G	CCDS43856.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111301	0.77210	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.67345	1.91;-0.26;-0.26;2.17	5.66	5.66	0.87406	.	0.108535	0.64402	D	0.000005	T	0.74435	0.3716	L	0.47716	1.5	0.47819	D	0.999522	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	T	0.70081	-0.4970	10	0.19147	T	0.46	-20.9135	13.8579	0.63540	0.0:0.0:0.0:1.0	.	473;473	Q68DC2-4;Q68DC2	.;ANKS6_HUMAN	R	172;473;473;278	ENSP00000364159:Q172R;ENSP00000364158:Q473R;ENSP00000297837:Q473R;ENSP00000442189:Q278R	ENSP00000297837:Q473R	Q	-	2	0	ANKS6	100580478	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	7.234000	0.78134	2.154000	0.67381	0.533000	0.62120	CAG		0.587	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277053.1	NM_173551		31	38	0	0	0	0	31	38				
SVEP1	79987	broad.mit.edu	37	9	113243615	113243615	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:113243615C>T	ENST00000401783.2	-	12	2608	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	SVEP1_ENST00000302728.8_Missense_Mutation_p.D758N|SVEP1_ENST00000374469.1_Missense_Mutation_p.D735N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374461.1_Missense_Mutation_p.D735N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	758	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTGTGAAATCATAGCCCTCC	0.413																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(2272-2274)GAT>AAT		polydom							96.0	91.0	93.0					9																	113243615		1884	4119	6003	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113243615C>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2272G>A	9.37:g.113243615C>T	ENSP00000384917:p.Asp758Asn					SVEP1_uc010mua.1_Missense_Mutation_p.D758N|SVEP1_uc004beu.2_Missense_Mutation_p.D758N	p.D758N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			12	2609	-			758			Sushi 4.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.2272G>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438933	0.63067	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	6.02	6.02	0.97574	Sushi/SCR/CCP (2);	0.196790	0.53938	D	0.000045	T	0.35393	0.0930	M	0.71581	2.175	0.31236	N	0.69571	P;P;P	0.52316	0.919;0.919;0.952	B;B;P	0.46659	0.401;0.395;0.523	T	0.45629	-0.9248	10	0.39692	T	0.17	.	14.1158	0.65151	0.0:0.9234:0.0:0.0766	.	758;758;758	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	N	758;735;758;735	ENSP00000384917:D758N;ENSP00000363593:D735N;ENSP00000304118:D758N;ENSP00000363585:D735N	ENSP00000304118:D758N	D	-	1	0	SVEP1	112283436	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.891000	0.56227	2.865000	0.98341	0.655000	0.94253	GAT		0.413	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	45	0	0	0	0	6	45				
UGCG	7357	broad.mit.edu	37	9	114695273	114695273	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:114695273T>A	ENST00000374279.3	+	9	1631	c.1181T>A	c.(1180-1182)gTa>gAa	p.V394E	MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	394					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	ATCCTAGATGTATAACTACAG	0.333																																						uc004bft.2		NA																	0				ovary(1)	1						c.(1180-1182)GTA>GAA		ceramide glucosyltransferase	Miglustat(DB00419)						57.0	52.0	53.0					9																	114695273		2203	4300	6503	SO:0001583	missense	7357				epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	g.chr9:114695273T>A	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.1181T>A	9.37:g.114695273T>A	ENSP00000363397:p.Val394Glu						p.V394E	NM_003358	NP_003349	Q16739	CEGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.0433)	9	1471	+			394			Cytoplasmic (Potential).		Q5T258	Missense_Mutation	SNP	ENST00000374279.3	37	c.1181T>A	CCDS6782.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711156	0.68730	.	.	ENSG00000148154	ENST00000374279	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.64506	0.926	T	0.68762	-0.5323	9	0.72032	D	0.01	.	16.0677	0.80897	0.0:0.0:0.0:1.0	.	394	Q16739	CEGT_HUMAN	E	394	.	ENSP00000363397:V394E	V	+	2	0	UGCG	113735094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.185000	0.69588	0.460000	0.39030	GTA		0.333	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053661.1	NM_003358		33	94	0	0	0	0	33	94				
TLR4	7099	broad.mit.edu	37	9	120476116	120476116	+	Silent	SNP	T	T	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:120476116T>C	ENST00000355622.6	+	3	1811	c.1710T>C	c.(1708-1710)agT>agC	p.S570S	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.S530S	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	570					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTCCAAGTAGTCTAGCTTTCT	0.413																																						uc004bjz.2		NA																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1708-1710)AGT>AGC		toll-like receptor 4 precursor							77.0	69.0	72.0					9																	120476116		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476116T>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1710T>C	9.37:g.120476116T>C						TLR4_uc004bka.2_Silent_p.S530S|TLR4_uc004bkb.2_Silent_p.S370S	p.S570S	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2001	+			570			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.1710T>C	CCDS6818.1																																																																																				0.413	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		73	60	0	0	0	0	73	60				
LHX6	26468	broad.mit.edu	37	9	124979413	124979413	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:124979413C>G	ENST00000373755.2	-	4	637	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	LHX6_ENST00000541397.2_Missense_Mutation_p.E195Q|LHX6_ENST00000559895.1_5'UTR|LHX6_ENST00000373754.2_Missense_Mutation_p.E177Q|LHX6_ENST00000394319.4_Missense_Mutation_p.E206Q|LHX6_ENST00000340587.3_Missense_Mutation_p.E206Q	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	177	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.|Required for interaction with LDB1. {ECO:0000250}.				cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						AGCACCTTCTCCTCGACCAGG	0.647																																						uc010mvw.2		NA																	0					0						c.(529-531)GAG>CAG		LIM homeobox protein 6 isoform 1							93.0	82.0	86.0					9																	124979413		2203	4300	6503	SO:0001583	missense	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124979413C>G	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.529G>C	9.37:g.124979413C>G	ENSP00000362860:p.Glu177Gln					LHX6_uc004blx.3_Missense_Mutation_p.E206Q|LHX6_uc004bly.3_Missense_Mutation_p.E206Q	p.E177Q	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN			4	638	-			177			LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).		A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	ENST00000373755.2	37	c.529G>C	CCDS56583.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479209	0.96307	.	.	ENSG00000106852	ENST00000373755;ENST00000373754;ENST00000394319;ENST00000340587;ENST00000541397	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.87	5.87	0.94306	Zinc finger, LIM-type (4);	0.045414	0.85682	D	0.000000	D	0.91818	0.7411	L	0.58101	1.795	0.80722	D	1	D;D;D	0.60160	0.979;0.973;0.987	P;P;P	0.62813	0.906;0.786;0.907	D	0.91061	0.4885	10	0.49607	T	0.09	.	19.1961	0.93690	0.0:1.0:0.0:0.0	.	177;206;206	Q9UPM6;Q9UPM6-4;Q9UPM6-3	LHX6_HUMAN;.;.	Q	177;177;206;206;195	ENSP00000362860:E177Q;ENSP00000362859:E177Q;ENSP00000377854:E206Q;ENSP00000340137:E206Q;ENSP00000441464:E195Q	ENSP00000340137:E206Q	E	-	1	0	LHX6	124019234	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.781000	0.95711	0.655000	0.94253	GAG		0.647	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		19	108	0	0	0	0	19	108				
RABGAP1	23637	broad.mit.edu	37	9	125772653	125772653	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:125772653G>C	ENST00000373647.4	+	11	1529	c.1395G>C	c.(1393-1395)aaG>aaC	p.K465N		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	465					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GGGAGAGAAAGAATAATACTG	0.318																																						uc011lzh.1		NA																	0				ovary(3)|kidney(2)	5						c.(1393-1395)AAG>AAC		RAB GTPase activating protein 1							74.0	81.0	79.0					9																	125772653		2203	4300	6503	SO:0001583	missense	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125772653G>C	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1395G>C	9.37:g.125772653G>C	ENSP00000362751:p.Lys465Asn					RABGAP1_uc004bnl.3_RNA	p.K465N	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN			11	1529	+			465					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	ENST00000373647.4	37	c.1395G>C	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	G	11.33	1.605803	0.28623	.	.	ENSG00000011454	ENST00000373647	T	0.06142	3.34	5.71	4.63	0.57726	.	0.111904	0.64402	D	0.000009	T	0.06096	0.0158	L	0.44542	1.39	0.80722	D	1	P	0.38020	0.615	B	0.30495	0.116	T	0.47182	-0.9137	10	0.17369	T	0.5	-17.5662	15.5819	0.76448	0.0769:0.0:0.9231:0.0	.	465	Q9Y3P9	RBGP1_HUMAN	N	465	ENSP00000362751:K465N	ENSP00000362751:K465N	K	+	3	2	RABGAP1	124812474	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.994000	0.76251	2.697000	0.92050	0.563000	0.77884	AAG		0.318	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		33	128	0	0	0	0	33	128				
ANGPTL2	23452	broad.mit.edu	37	9	129856193	129856193	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:129856193T>A	ENST00000373425.3	-	3	1447	c.830A>T	c.(829-831)gAc>gTc	p.D277V	RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_5'UTR|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	277	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTGCAGGCAGTCTCTCCATGG	0.617																																						uc004bqr.1		NA																	0					0						c.(829-831)GAC>GTC		angiopoietin-like 2 precursor							60.0	53.0	55.0					9																	129856193		2203	4300	6503	SO:0001583	missense	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129856193T>A	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.830A>T	9.37:g.129856193T>A	ENSP00000362524:p.Asp277Val					RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_5'UTR	p.D277V	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN			3	1330	-			277			Fibrinogen C-terminal.		Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	c.830A>T	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709127	0.89018	.	.	ENSG00000136859	ENST00000373425	D	0.81996	-1.56	5.21	5.21	0.72293	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96278	0.9204	10	0.87932	D	0	.	15.3692	0.74548	0.0:0.0:0.0:1.0	.	277	Q9UKU9	ANGL2_HUMAN	V	277	ENSP00000362524:D277V	ENSP00000362524:D277V	D	-	2	0	ANGPTL2	128896014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.088000	0.63022	0.533000	0.62120	GAC		0.617	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		38	103	0	0	0	0	38	103				
LRSAM1	90678	broad.mit.edu	37	9	130253536	130253536	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:130253536G>C	ENST00000323301.4	+	19	2069	c.1465G>C	c.(1465-1467)Gag>Cag	p.E489Q	LRSAM1_ENST00000373324.4_Intron|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E489Q|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E489Q	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	489					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACACAGCTGGAGTTAAAGAG	0.483																																						uc004brb.1		NA																	0					0						c.(1465-1467)GAG>CAG		leucine rich repeat and sterile alpha motif							96.0	99.0	98.0					9																	130253536		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130253536G>C	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1465G>C	9.37:g.130253536G>C	ENSP00000322937:p.Glu489Gln					LRSAM1_uc010mxk.1_Intron|LRSAM1_uc004brc.1_Missense_Mutation_p.E489Q|LRSAM1_uc004brd.1_Missense_Mutation_p.E489Q|LRSAM1_uc004bre.1_Missense_Mutation_p.E69Q	p.E489Q	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN			20	1810	+			489					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.1465G>C	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469660	0.84533	.	.	ENSG00000148356	ENST00000300417;ENST00000323301;ENST00000373322	T;T;T	0.52057	0.68;0.68;0.68	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	M	0.78049	2.395	0.58432	D	0.999997	D	0.69078	0.997	D	0.75484	0.986	T	0.73338	-0.4014	10	0.87932	D	0	-28.7523	17.2336	0.86991	0.0:0.0:1.0:0.0	.	489	Q6UWE0	LRSM1_HUMAN	Q	489	ENSP00000300417:E489Q;ENSP00000322937:E489Q;ENSP00000362419:E489Q	ENSP00000300417:E489Q	E	+	1	0	LRSAM1	129293357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.862000	0.87013	2.739000	0.93911	0.655000	0.94253	GAG		0.483	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		11	95	0	0	0	0	11	95				
ZER1	10444	broad.mit.edu	37	9	131515013	131515013	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:131515013C>T	ENST00000291900.2	-	5	1268	c.862G>A	c.(862-864)Ggc>Agc	p.G288S	ZER1_ENST00000494461.1_5'Flank	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	288					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						ATCATGTGGCCAGAGATGTCC	0.577																																						uc004bwa.1		NA																	0				ovary(1)	1						c.(862-864)GGC>AGC		zyg-11 homolog B (C. elegans)-like							82.0	74.0	77.0					9																	131515013		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131515013C>T	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.862G>A	9.37:g.131515013C>T	ENSP00000291900:p.Gly288Ser						p.G288S	NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN			5	1295	-			288			LRR 3.		O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.862G>A	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	C	31	5.090043	0.94149	.	.	ENSG00000160445	ENST00000291900	T	0.18960	2.18	5.04	5.04	0.67666	.	0.048470	0.85682	D	0.000000	T	0.42291	0.1196	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.14364	-1.0475	10	0.52906	T	0.07	-42.4038	17.5587	0.87900	0.0:1.0:0.0:0.0	.	288	Q7Z7L7	ZER1_HUMAN	S	288	ENSP00000291900:G288S	ENSP00000291900:G288S	G	-	1	0	ZER1	130554834	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.104000	0.77024	2.622000	0.88805	0.655000	0.94253	GGC		0.577	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		3	78	0	0	0	0	3	78				
MXRA5	25878	broad.mit.edu	37	X	3228112	3228112	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:3228112C>A	ENST00000217939.6	-	7	8286	c.8132G>T	c.(8131-8133)tGc>tTc	p.C2711F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2711	Ig-like C2-type 11.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCCATCCTGCATACATAGGT	0.607																																						uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(8131-8133)TGC>TTC		adlican precursor							45.0	40.0	41.0					X																	3228112		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3228112C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8132G>T	X.37:g.3228112C>A	ENSP00000217939:p.Cys2711Phe						p.C2711F	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	8289	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2711			Ig-like C2-type 11.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.8132G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244176	0.39697	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.58797	0.31	4.32	4.32	0.51571	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44097	U	0.000494	D	0.83418	0.5250	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89710	0.3911	10	0.87932	D	0	.	16.4191	0.83752	0.0:1.0:0.0:0.0	.	2711	Q9NR99	MXRA5_HUMAN	F	2711	ENSP00000217939:C2711F	ENSP00000217939:C2711F	C	-	2	0	MXRA5	3238112	1.000000	0.71417	0.076000	0.20297	0.012000	0.07955	6.358000	0.73055	1.782000	0.52362	0.502000	0.49764	TGC		0.607	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		36	112	1	0	3.11e-16	3.41e-16	36	112				
ARHGAP6	395	broad.mit.edu	37	X	11187736	11187736	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:11187736C>G	ENST00000337414.4	-	9	2570	c.1698G>C	c.(1696-1698)caG>caC	p.Q566H	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q391H|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q363H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q566H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q363H|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q598H|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q375H	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	566	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGATGACTTCTGCTTGTGCA	0.438																																						uc004cup.1		NA																	0				urinary_tract(1)|lung(1)	2						c.(1696-1698)CAG>CAC		Rho GTPase activating protein 6 isoform 1							151.0	125.0	134.0					X																	11187736		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11187736C>G	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1698G>C	X.37:g.11187736C>G	ENSP00000338967:p.Gln566His					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.Q566H|ARHGAP6_uc004cum.1_Missense_Mutation_p.Q363H|ARHGAP6_uc004cun.1_Missense_Mutation_p.Q386H|ARHGAP6_uc010neb.1_Missense_Mutation_p.Q388H|ARHGAP6_uc011mif.1_Missense_Mutation_p.Q363H	p.Q566H	NM_013427	NP_038286	O43182	RHG06_HUMAN			9	2571	-			566			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1698G>C	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165902	0.78339	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.57	4.71	0.59529	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.50627	D	0.000116	T	0.36771	0.0979	L	0.49513	1.565	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.977;0.998;0.995;0.999	D;P;D;D;D	0.79784	0.942;0.846;0.929;0.966;0.993	T	0.07849	-1.0751	10	0.15066	T	0.55	.	13.5922	0.61967	0.0:0.9234:0.0:0.0766	.	375;363;566;566;566	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	H	391;363;363;566;402;566;375;598	ENSP00000438135:Q391H;ENSP00000370112:Q363H;ENSP00000302312:Q363H;ENSP00000338967:Q566H;ENSP00000370093:Q402H;ENSP00000370094:Q566H;ENSP00000389394:Q375H;ENSP00000370108:Q598H	ENSP00000302312:Q363H	Q	-	3	2	ARHGAP6	11097657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.552000	0.60747	1.124000	0.41980	0.544000	0.68410	CAG		0.438	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		29	214	0	0	0	0	29	214				
GRPR	2925	broad.mit.edu	37	X	16142343	16142343	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:16142343C>T	ENST00000380289.2	+	1	665	c.267C>T	c.(265-267)ctC>ctT	p.L89L		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	89					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ACCTGCTCCTCCTAATAACGT	0.483											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cxj.2		NA																	0				ovary(3)|lung(1)	4						c.(265-267)CTC>CTT		gastrin-releasing peptide receptor							190.0	150.0	164.0					X																	16142343		2203	4300	6503	SO:0001819	synonymous_variant	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16142343C>T		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.267C>T	X.37:g.16142343C>T			OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	708		p.L89L	NM_005314	NP_005305	P30550	GRPR_HUMAN			1	920	+	Hepatocellular(33;0.183)		89			Helical; Name=2; (Potential).		B2R910	Silent	SNP	ENST00000380289.2	37	c.267C>T	CCDS14174.1																																																																																				0.483	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		28	349	0	0	0	0	28	349				
MAGEB1	4112	broad.mit.edu	37	X	30269381	30269381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:30269381C>A	ENST00000378981.3	+	4	1092	c.771C>A	c.(769-771)taC>taA	p.Y257*	MAGEB1_ENST00000397550.1_Nonsense_Mutation_p.Y257*|MAGEB1_ENST00000397548.2_Nonsense_Mutation_p.Y257*	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	257	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.Y257Y(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ATCTGAAGTACGAGCAGGTGC	0.493																																						uc004dcc.2		NA																	1	Substitution - coding silent(1)		ovary(1)		0						c.(769-771)TAC>TAA		melanoma antigen family B, 1							93.0	82.0	86.0					X																	30269381		2202	4300	6502	SO:0001587	stop_gained	4112							g.chrX:30269381C>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.771C>A	X.37:g.30269381C>A	ENSP00000368264:p.Tyr257*					MAGEB1_uc004dcd.2_Nonsense_Mutation_p.Y257*|MAGEB1_uc004dce.2_Nonsense_Mutation_p.Y257*	p.Y257*	NM_002363	NP_002354	P43366	MAGB1_HUMAN			4	1091	+			257			MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Nonsense_Mutation	SNP	ENST00000378981.3	37	c.771C>A	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.059110	0.36373	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	.	.	.	3.99	1.19	0.21007	.	0.068530	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4546	0.16584	0.0:0.5955:0.0:0.4045	.	.	.	.	X	257	.	ENSP00000368264:Y257X	Y	+	3	2	MAGEB1	30179302	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.838000	0.04372	0.110000	0.17919	-0.208000	0.12717	TAC		0.493	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		35	85	1	0	2.42e-17	2.67e-17	35	85				
FAM47A	158724	broad.mit.edu	37	X	34148687	34148687	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:34148687G>A	ENST00000346193.3	-	1	1760	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	570										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGAGGCTCCGAGAATTGATG	0.522																																						uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1708-1710)TCG>TTG		hypothetical protein LOC158724							66.0	64.0	65.0					X																	34148687		2153	4261	6414	SO:0001583	missense	158724							g.chrX:34148687G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1709C>T	X.37:g.34148687G>A	ENSP00000345029:p.Ser570Leu						p.S570L	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1742	-			570					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1709C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	1.292	-0.607227	0.03717	.	.	ENSG00000185448	ENST00000346193	T	0.13420	2.59	0.919	-0.481	0.12082	.	.	.	.	.	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B	0.28971	0.229	B	0.26770	0.073	T	0.39502	-0.9611	9	0.28530	T	0.3	.	3.0961	0.06309	0.4616:0.0:0.5384:0.0	.	570	Q5JRC9	FA47A_HUMAN	L	570	ENSP00000345029:S570L	ENSP00000345029:S570L	S	-	2	0	FAM47A	34058608	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.557000	0.05985	-0.203000	0.10251	0.279000	0.19357	TCG		0.522	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		10	125	0	0	0	0	10	125				
SLC9A7	84679	broad.mit.edu	37	X	46466624	46466624	+	Silent	SNP	C	C	A			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:46466624C>A	ENST00000328306.4	-	17	1966	c.1941G>T	c.(1939-1941)ctG>ctT	p.L647L	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	647					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CTTCCTCTCTCAGTGGCTCTT	0.498																																					Pancreas(118;454 1696 1930 13865 39976)	uc004dgu.1		NA																	0				ovary(2)	2						c.(1939-1941)CTG>CTT		solute carrier family 9, member 7							45.0	33.0	37.0					X																	46466624		2203	4300	6503	SO:0001819	synonymous_variant	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46466624C>A	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1941G>T	X.37:g.46466624C>A							p.L647L	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN			17	1949	-			647					O75827|Q5JXP9	Silent	SNP	ENST00000328306.4	37	c.1941G>T	CCDS14269.1																																																																																				0.498	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		9	78	1	0	0.00829132	0.00852692	9	78				
GPKOW	27238	broad.mit.edu	37	X	48972603	48972603	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:48972603C>G	ENST00000156109.5	-	7	1066	c.988G>C	c.(988-990)Gag>Cag	p.E330Q		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	330						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CGCTTCCTCTCTGAGTTGTCC	0.572																																						uc004dmr.2		NA																	0				ovary(2)	2						c.(988-990)GAG>CAG		G patch domain and KOW motifs							244.0	179.0	201.0					X																	48972603		2203	4300	6503	SO:0001583	missense	27238					nucleus	nucleic acid binding	g.chrX:48972603C>G	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.988G>C	X.37:g.48972603C>G	ENSP00000156109:p.Glu330Gln						p.E330Q	NM_015698	NP_056513	Q92917	GPKOW_HUMAN			7	995	-			330					Q59EK5|Q9BQA8	Missense_Mutation	SNP	ENST00000156109.5	37	c.988G>C	CCDS35251.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410823	0.25465	.	.	ENSG00000068394	ENST00000156109	.	.	.	4.98	1.97	0.26223	.	0.676467	0.15583	N	0.254811	T	0.39708	0.1088	M	0.69248	2.105	0.09310	N	1	B	0.19817	0.039	B	0.11329	0.006	T	0.30475	-0.9977	9	0.20046	T	0.44	-23.3671	6.0618	0.19842	0.0:0.5313:0.3547:0.1139	.	330	Q92917	GPKOW_HUMAN	Q	330	.	ENSP00000156109:E330Q	E	-	1	0	GPKOW	48859547	0.000000	0.05858	0.002000	0.10522	0.446000	0.32137	0.318000	0.19504	0.132000	0.18615	0.585000	0.79938	GAG		0.572	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		11	126	0	0	0	0	11	126				
CCNB3	85417	broad.mit.edu	37	X	50089689	50089689	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:50089689C>T	ENST00000376042.1	+	10	3991	c.3693C>T	c.(3691-3693)atC>atT	p.I1231I	CCNB3_ENST00000348603.2_Silent_p.I127I|CCNB3_ENST00000276014.7_Silent_p.I1231I|CCNB3_ENST00000376038.1_Silent_p.I127I			Q8WWL7	CCNB3_HUMAN	cyclin B3	1231					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTGTGTACATCTGTGATGATA	0.463																																						uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(3691-3693)ATC>ATT		cyclin B3 isoform 3							214.0	168.0	184.0					X																	50089689		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50089689C>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3693C>T	X.37:g.50089689C>T						CCNB3_uc004doy.2_Silent_p.I1231I|CCNB3_uc004doz.2_Silent_p.I127I|CCNB3_uc010njq.2_Silent_p.I123I|CCNB3_uc004dpa.2_Silent_p.I70I	p.I1231I	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			10	3991	+	Ovarian(276;0.236)		1231					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.3693C>T	CCDS14331.1																																																																																				0.463	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			21	189	0	0	0	0	21	189				
BMP15	9210	broad.mit.edu	37	X	50659550	50659551	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:50659550_50659551GA>TT	ENST00000252677.3	+	2	1122_1123	c.1122_1123GA>TT	c.(1120-1125)ggGAgt>ggTTgt	p.S375C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	375					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AGGCAAATGGGAGTATTTTGTA	0.465																																						uc011mnw.1		NA																	0				ovary(2)	2						c.(1120-1125)GGGAGT>GGTTGT		bone morphogenetic protein 15 precursor																																				SO:0001583	missense	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659550_50659551GA>TT	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	Exception_encountered	X.37:g.50659550_50659551delinsTT	ENSP00000252677:p.Ser375Cys						p.S375C	NM_005448	NP_005439	O95972	BMP15_HUMAN			2	1122_1123	+	Ovarian(276;0.236)		375					Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	DNP	ENST00000252677.3	37	c.1122_1123GA>TT	CCDS14334.1																																																																																				0.465	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448		61	208	0	0	0	0	61	208				
FAM120C	54954	broad.mit.edu	37	X	54112314	54112314	+	Silent	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54112314C>T	ENST00000375180.2	-	13	2729	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	FAM120C_ENST00000328235.4_Intron	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	891							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAAGGATGCTCTGTCTCATCT	0.478																																						uc004dsz.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2671-2673)CAG>CAA		hypothetical protein LOC54954							168.0	134.0	146.0					X																	54112314		2203	4300	6503	SO:0001819	synonymous_variant	54954							g.chrX:54112314C>T	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2673G>A	X.37:g.54112314C>T						FAM120C_uc011moh.1_Intron	p.Q891Q	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			13	2756	-			891					B2RMT7	Silent	SNP	ENST00000375180.2	37	c.2673G>A	CCDS14356.1																																																																																				0.478	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		54	74	0	0	0	0	54	74				
WNK3	65267	broad.mit.edu	37	X	54319739	54319739	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54319739C>G	ENST00000375159.2	-	8	1714	c.1715G>C	c.(1714-1716)gGa>gCa	p.G572A	WNK3_ENST00000354646.2_Missense_Mutation_p.G572A|WNK3_ENST00000375169.3_Missense_Mutation_p.G572A			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	572					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGATGCAGCTCCTGCCTCAGA	0.393																																						uc004dtd.1		NA																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(1714-1716)GGA>GCA		WNK lysine deficient protein kinase 3 isoform 2							72.0	64.0	67.0					X																	54319739		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54319739C>G	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1715G>C	X.37:g.54319739C>G	ENSP00000364301:p.Gly572Ala					WNK3_uc004dtc.1_Missense_Mutation_p.G572A	p.G572A	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			9	2154	-			572					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.1715G>C	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.251509	0.39797	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.40476	1.03;1.03;1.03	5.6	3.78	0.43462	.	0.350902	0.24511	N	0.037889	T	0.30262	0.0759	L	0.29908	0.895	0.30406	N	0.779567	B;B	0.12013	0.005;0.003	B;B	0.12156	0.007;0.005	T	0.21245	-1.0251	10	0.54805	T	0.06	-4.6718	9.273	0.37684	0.0:0.7742:0.1432:0.0826	.	572;572	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	A	572	ENSP00000364312:G572A;ENSP00000346667:G572A;ENSP00000364301:G572A	ENSP00000346667:G572A	G	-	2	0	WNK3	54336464	1.000000	0.71417	0.943000	0.38184	0.992000	0.81027	1.957000	0.40392	0.511000	0.28236	0.594000	0.82650	GGA		0.393	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		15	118	0	0	0	0	15	118				
FGD1	2245	broad.mit.edu	37	X	54476730	54476730	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54476730C>G	ENST00000375135.3	-	13	2753	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	674	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TTCTCCTCCTCAGTCCTTGGG	0.478																																						uc004dtg.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2020-2022)GAG>CAG		faciogenital dysplasia protein							113.0	102.0	105.0					X																	54476730		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54476730C>G	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2020G>C	X.37:g.54476730C>G	ENSP00000364277:p.Glu674Gln					FGD1_uc011moi.1_Missense_Mutation_p.E432Q	p.E674Q	NM_004463	NP_004454	P98174	FGD1_HUMAN			13	2754	-			674			PH 1.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.2020G>C	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425855	0.43020	.	.	ENSG00000102302	ENST00000375135	T	0.77229	-1.08	4.58	4.58	0.56647	Pleckstrin homology-type (1);Pleckstrin homology domain (3);Zinc finger, FYVE/PHD-type (1);	0.000000	0.51477	D	0.000086	T	0.77046	0.4073	L	0.41124	1.26	0.41435	D	0.987881	B;B	0.24963	0.115;0.115	B;B	0.41174	0.086;0.349	T	0.74216	-0.3737	10	0.33141	T	0.24	-10.3712	15.4511	0.75274	0.0:1.0:0.0:0.0	.	432;674	B4DS99;P98174	.;FGD1_HUMAN	Q	674	ENSP00000364277:E674Q	ENSP00000364277:E674Q	E	-	1	0	FGD1	54493455	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.894000	0.48640	2.244000	0.73946	0.513000	0.50165	GAG		0.478	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		15	235	0	0	0	0	15	235				
PFKFB1	5207	broad.mit.edu	37	X	54971904	54971904	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:54971904C>G	ENST00000375006.3	-	10	1136	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	PFKFB1_ENST00000374992.2_Missense_Mutation_p.D156H|PFKFB1_ENST00000545676.1_Missense_Mutation_p.D291H	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	356	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CGATATTTATCTTGGTCTCGC	0.478																																						uc004dty.1		NA																	0				ovary(1)	1						c.(1066-1068)GAT>CAT		6-phosphofructo-2-kinase/fructose-2,							139.0	107.0	118.0					X																	54971904		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54971904C>G		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1066G>C	X.37:g.54971904C>G	ENSP00000364145:p.Asp356His					PFKFB1_uc010nkd.1_Missense_Mutation_p.D164H|PFKFB1_uc011mol.1_Missense_Mutation_p.D291H	p.D356H	NM_002625	NP_002616	P16118	F261_HUMAN			10	1137	-			356			Fructose-2,6-bisphosphatase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.1066G>C	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478620	0.84747	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	T;T;T	0.73152	-0.72;-0.72;-0.72	4.93	4.93	0.64822	Histidine phosphatase superfamily, clade-1 (2);	0.094462	0.64402	D	0.000001	D	0.85915	0.5808	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.987;0.985	D	0.88819	0.3297	10	0.87932	D	0	-20.0164	16.3472	0.83146	0.0:1.0:0.0:0.0	.	291;156;356	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	H	356;291;156	ENSP00000364145:D356H;ENSP00000444074:D291H;ENSP00000364131:D156H	ENSP00000364131:D156H	D	-	1	0	PFKFB1	54988629	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.712000	0.84684	2.201000	0.70794	0.556000	0.70494	GAT		0.478	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			5	70	0	0	0	0	5	70				
BTK	695	broad.mit.edu	37	X	100615599	100615599	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:100615599C>T	ENST00000308731.7	-	8	896	c.733G>A	c.(733-735)Gag>Aag	p.E245K	BTK_ENST00000372880.1_Missense_Mutation_p.E245K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	245	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGCTTTCCTCCAAGATAAAA	0.478									Agammaglobulinemia, X-linked																													uc004ehg.2		NA																	0				lung(3)|central_nervous_system(2)|ovary(1)	6						c.(733-735)GAG>AAG		Bruton agammaglobulinemia tyrosine kinase							151.0	128.0	136.0					X																	100615599		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100615599C>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.733G>A	X.37:g.100615599C>T	ENSP00000308176:p.Glu245Lys					BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc010nnn.2_Missense_Mutation_p.E245K|BTK_uc010nno.2_Missense_Mutation_p.E279K|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Missense_Mutation_p.E245K	p.E245K	NM_000061	NP_000052	Q06187	BTK_HUMAN			8	926	-			245			SH3.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.733G>A	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430019	0.83776	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	T;T	0.52983	0.64;0.64	5.98	5.98	0.97165	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	L	0.52823	1.66	0.80722	D	1	B;B;P	0.34955	0.443;0.032;0.477	B;B;B	0.43445	0.42;0.133;0.186	T	0.53858	-0.8379	10	0.51188	T	0.08	.	18.9869	0.92775	0.0:1.0:0.0:0.0	.	245;245;245	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	K	245	ENSP00000361971:E245K;ENSP00000308176:E245K	ENSP00000308176:E245K	E	-	1	0	BTK	100502255	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.420000	0.66441	2.532000	0.85374	0.594000	0.82650	GAG		0.478	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		6	180	0	0	0	0	6	180				
GPRASP1	9737	broad.mit.edu	37	X	101911992	101911992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:101911992C>T	ENST00000361600.5	+	5	3952	c.3151C>T	c.(3151-3153)Cag>Tag	p.Q1051*	GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Q1051*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Q1051*|GPRASP1_ENST00000537097.1_Nonsense_Mutation_p.Q1051*|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1051	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTCACTGTTCAGTTCAAGCC	0.532																																						uc004ejj.3		NA																	0				ovary(1)|lung(1)	2						c.(3151-3153)CAG>TAG		G protein-coupled receptor associated sorting							130.0	123.0	125.0					X																	101911992		2203	4300	6503	SO:0001587	stop_gained	9737					cytoplasm	protein binding	g.chrX:101911992C>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3151C>T	X.37:g.101911992C>T	ENSP00000355146:p.Gln1051*					GPRASP1_uc004eji.3_Nonsense_Mutation_p.Q1051*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.Q1051*	p.Q1051*	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	3952	+			1051			OPRD1-binding.		O43168|Q96LA1	Nonsense_Mutation	SNP	ENST00000361600.5	37	c.3151C>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	43	10.219920	0.99362	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	.	.	.	2.84	-5.68	0.02436	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-0.7369	3.0075	0.06033	0.5623:0.192:0.1384:0.1074	.	.	.	.	X	1051	.	ENSP00000355146:Q1051X	Q	+	1	0	GPRASP1	101798648	0.090000	0.21635	0.048000	0.18961	0.499000	0.33736	-1.340000	0.02650	-1.706000	0.01404	-0.921000	0.02739	CAG		0.532	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		147	243	0	0	0	0	147	243				
NRK	203447	broad.mit.edu	37	X	105149322	105149322	+	Silent	SNP	C	C	G			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:105149322C>G	ENST00000243300.9	+	10	1134	c.831C>G	c.(829-831)gtC>gtG	p.V277V	NRK_ENST00000428173.2_Silent_p.V277V	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTCCCACAGTCAAATCCAGCG	0.373										HNSCC(51;0.14)																												uc004emd.2		NA																	0				breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(829-831)GTC>GTG		Nik related kinase							128.0	106.0	113.0					X																	105149322		1873	4079	5952	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105149322C>G	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.831C>G	X.37:g.105149322C>G		HNSCC(51;0.14)				NRK_uc010npc.1_5'UTR	p.V277V	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			10	1134	+			277			Protein kinase.		Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.831C>G																																																																																					0.373	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		6	35	0	0	0	0	6	35				
ACSL4	2182	broad.mit.edu	37	X	108904860	108904860	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:108904860G>T	ENST00000469796.2	-	14	2116	c.1720C>A	c.(1720-1722)Cta>Ata	p.L574I	ACSL4_ENST00000340800.2_Missense_Mutation_p.L574I|ACSL4_ENST00000348502.6_Missense_Mutation_p.L533I			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	574					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	AACTTCACTAGATCTTTCTTA	0.358																																					Pancreas(188;358 2127 38547 41466 45492)	uc004eoi.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1720-1722)CTA>ATA		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						151.0	128.0	136.0					X																	108904860		2203	4299	6502	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108904860G>T	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1720C>A	X.37:g.108904860G>T	ENSP00000419171:p.Leu574Ile					ACSL4_uc004eoj.2_Missense_Mutation_p.L533I|ACSL4_uc004eok.2_Missense_Mutation_p.L533I	p.L574I	NM_022977	NP_075266	O60488	ACSL4_HUMAN			15	2225	-			574			Cytoplasmic (Potential).		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.1720C>A	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317184	0.40996	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.40756	1.02;1.02;1.02	4.85	2.65	0.31530	AMP-dependent synthetase/ligase (1);	0.000000	0.64402	D	0.000003	T	0.29976	0.0750	N	0.04636	-0.2	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.43988	-0.9357	10	0.02654	T	1	-6.1577	5.8325	0.18588	0.4157:0.0:0.5843:0.0	.	574	O60488	ACSL4_HUMAN	I	533;574;574	ENSP00000262835:L533I;ENSP00000419171:L574I;ENSP00000339787:L574I	ENSP00000339787:L574I	L	-	1	2	ACSL4	108791516	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.012000	0.40932	0.964000	0.38108	-0.322000	0.08575	CTA		0.358	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		21	143	1	0	1.38e-19	1.53e-19	21	143				
ARHGAP4	393	broad.mit.edu	37	X	153178174	153178174	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:153178174C>T	ENST00000350060.5	-	12	1563	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.D485N|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.D487N|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.D330N|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.D548N	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	508	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCATGTCTCCCCCAAAG	0.557																																						uc004fjk.1		NA																	0				central_nervous_system(1)	1						c.(1522-1524)GAC>AAC		Rho GTPase activating protein 4 isoform 2							113.0	111.0	112.0					X																	153178174		2203	4300	6503	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153178174C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1522G>A	X.37:g.153178174C>T	ENSP00000203786:p.Asp508Asn					ARHGAP4_uc004fjj.1_5'Flank|ARHGAP4_uc011mzf.1_Missense_Mutation_p.D485N|ARHGAP4_uc004fjl.1_Missense_Mutation_p.D548N|ARHGAP4_uc010nup.1_RNA	p.D508N	NM_001666	NP_001657	P98171	RHG04_HUMAN			12	1564	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		508			Rho-GAP.		Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1522G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151895	0.78001	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	5.46	4.6	0.57074	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.284166	0.25416	N	0.030829	T	0.29126	0.0724	L	0.47016	1.485	0.48901	D	0.999728	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00763	-1.1576	10	0.45353	T	0.12	.	12.218	0.54416	0.0:0.9142:0.0:0.0857	.	548;508	Q86UY3;P98171	.;RHG04_HUMAN	N	330;548;508;487;485	ENSP00000377322:D330N;ENSP00000359045:D548N;ENSP00000203786:D508N;ENSP00000359033:D487N;ENSP00000444169:D485N	ENSP00000203786:D508N	D	-	1	0	ARHGAP4	152831368	0.964000	0.33143	0.995000	0.50966	0.978000	0.69477	2.251000	0.43187	1.095000	0.41419	0.525000	0.51046	GAC		0.557	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		44	360	0	0	0	0	44	360				
OPN1MW2	728458	broad.mit.edu	37	X	153496185	153496185	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:153496185G>T	ENST00000369929.4	+	5	973	c.913G>T	c.(913-915)Gcc>Tcc	p.A305S		NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	305					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTGATGGCTGCCCTGCCGGC	0.552																																						uc004fkd.2		NA																	0					0						c.(913-915)GCC>TCC		opsin 1 (cone pigments), medium-wave-sensitive							104.0	76.0	86.0					X																	153496185		2092	3761	5853	SO:0001583	missense	2652				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153496185G>T		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"""GPCR / Class A : Opsin receptors"""	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.913G>T	X.37:g.153496185G>T	ENSP00000358945:p.Ala305Ser						p.A305S	NM_000513	NP_000504	P04001	OPSG_HUMAN			5	995	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		305			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000369929.4	37	c.913G>T	CCDS35447.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596698	0.28445	.	.	ENSG00000166160	ENST00000369929	T	0.37058	1.22	2.81	0.341	0.15991	.	0.107269	0.64402	N	0.000007	T	0.41834	0.1176	.	.	.	0.43267	D	0.995212	.	.	.	.	.	.	T	0.25916	-1.0118	7	0.45353	T	0.12	.	9.6237	0.39737	0.0:0.0:0.6115:0.3885	.	.	.	.	S	305	ENSP00000358945:A305S	ENSP00000358945:A305S	A	+	1	0	OPN1MW2	153149379	0.759000	0.28416	0.675000	0.29917	0.654000	0.38779	0.990000	0.29642	0.226000	0.20979	0.407000	0.27541	GCC		0.552	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061149.2	NM_001048181		86	365	1	0	1.85e-53	2.07e-53	86	365				
PLXNA3	55558	broad.mit.edu	37	X	153689684	153689684	+	Silent	SNP	C	C	T	rs149751983		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chrX:153689684C>T	ENST00000369682.3	+	3	1015	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	280	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AATTCCCCATCGGCTGCTCCT	0.637													C|||	3	0.000794702	0.0	0.0014	3775	,	,		13049	0.0		0.0	False		,,,				2504	0.002					uc004flm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(838-840)ATC>ATT		plexin A3 precursor		C		1,3834		0,1,1631,571	79.0	75.0	77.0		840	-3.1	0.9	X	dbSNP_134	77	0,6728		0,0,2428,1872	no	coding-synonymous	PLXNA3	NM_017514.3		0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095		280/1872	153689684	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153689684C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.840C>T	X.37:g.153689684C>T							p.I280I	NM_017514	NP_059984	P51805	PLXA3_HUMAN			3	1013	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		280			Sema.|Extracellular (Potential).		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.840C>T	CCDS14752.1																																																																																				0.637	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		27	198	0	0	0	0	27	198				
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:59812016_59812017insG	ENST00000303721.7	+	4	585_586	c.411_412insG	c.(412-414)gggfs	p.G138fs	FGGY_ENST00000371218.4_Frame_Shift_Ins_p.G138fs|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	138					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.5																																						uc001czi.3		NA																	0				ovary(1)	1						c.(409-414)GTCGGGfs		FGGY carbohydrate kinase domain containing																																				SO:0001589	frameshift_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59812016_59812017insG		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.418dupG	1.37:g.59812023_59812023dupG	ENSP00000305922:p.Gly138fs					FGGY_uc001czg.2_Frame_Shift_Ins_p.V25fs|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Frame_Shift_Ins_p.V137fs|FGGY_uc001czj.3_Frame_Shift_Ins_p.V137fs|FGGY_uc001czk.3_Frame_Shift_Ins_p.V25fs|FGGY_uc001czl.3_Intron	p.V137fs	NM_018291	NP_060761	Q96C11	FGGY_HUMAN			4	623_624	+	all_cancers(7;7.36e-05)		137_138					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Frame_Shift_Ins	INS	ENST00000303721.7	37	c.411_412insG	CCDS611.2																																																																																				0.500	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		11	68	NA	NA	NA	NA	11	68	---	---	---	---
FNDC7	163479	broad.mit.edu	37	1	109275982	109275990	+	In_Frame_Del	DEL	TTACAGCAC	TTACAGCAC	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:109275982_109275990delTTACAGCAC	ENST00000370017.3	+	10	2245_2253	c.1968_1976delTTACAGCAC	c.(1966-1977)aattacagcact>aat	p.YST657del	FNDC7_ENST00000271311.2_In_Frame_Del_p.YST658del|RP11-293A10.3_ENST00000437400.2_RNA	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	657	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GCTCTGCCAATTACAGCACTGACCTCTAT	0.531																																						uc001dvx.2		NA																	0				ovary(1)|skin(1)	2						c.(1966-1977)AATTACAGCACT>AAT		fibronectin type III domain containing 7																																				SO:0001651	inframe_deletion	163479					extracellular region		g.chr1:109275982_109275990delTTACAGCAC		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1968_1976delTTACAGCAC	1.37:g.109275982_109275990delTTACAGCAC	ENSP00000359034:p.Tyr657_Thr659del					FNDC7_uc010ova.1_In_Frame_Del_p.YST424del	p.YST657del	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	10	1968_1976	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	658_660			Fibronectin type-III 8.		A1L468|E9PAZ5|Q6PF16|Q8NA51	In_Frame_Del	DEL	ENST00000370017.3	37	c.1968_1976delTTACAGCAC	CCDS44185.1																																																																																				0.531	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		45	165	NA	NA	NA	NA	45	165	---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197480010	197480011	+	IGR	INS	-	-	T			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:197480010_197480011insT								CRB1 (32425 upstream) : DENND1B (41373 downstream)																							CATGGAGGGCACTATCGTCTTG	0.455																																						uc010ppe.1		NA																	0					0						c.(1846-1848)AGTfs		DENN/MADD domain containing 1B isoform 1																																				SO:0001628	intergenic_variant	163486					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr1:197480010_197480011insT																													1.37:g.197480010_197480011insT						DENND1B_uc010ppf.1_RNA	p.S616fs	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN			22	2185_2186	-			Error:Variant_position_missing_in_Q6P3S1_after_alignment						Frame_Shift_Ins	INS		37	c.1847_1848insA																																																																																				0	0.455									25	81	NA	NA	NA	NA	25	81	---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202742383	202742383	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr1:202742383delA	ENST00000367265.3	-	4	1603	c.439delT	c.(439-441)tgcfs	p.C147fs	KDM5B_ENST00000367264.2_Frame_Shift_Del_p.C147fs	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	147	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTATCCTTGCAAACAACTGCA	0.388																																						uc001gyf.2		NA																	0				ovary(2)|breast(2)|urinary_tract(1)	5						c.(439-441)TGCfs		jumonji, AT rich interactive domain 1B							143.0	127.0	133.0					1																	202742383		2203	4300	6503	SO:0001589	frameshift_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202742383delA	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.439delT	1.37:g.202742383delA	ENSP00000356234:p.Cys147fs					KDM5B_uc009xag.2_Frame_Shift_Del_p.C147fs|KDM5B_uc001gyg.1_5'UTR	p.C147fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			4	555	-			147			ARID.		O95811|Q15752|Q9Y3Q5	Frame_Shift_Del	DEL	ENST00000367265.3	37	c.439delT	CCDS30974.1																																																																																				0.388	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		41	87	NA	NA	NA	NA	41	87	---	---	---	---
NRIP3	56675	broad.mit.edu	37	11	9009738	9009744	+	Frame_Shift_Del	DEL	TTCGTCT	TTCGTCT	-	rs150007282		TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr11:9009738_9009744delTTCGTCT	ENST00000309166.3	-	2	373_379	c.260_266delAGACGAA	c.(259-267)aagacgaacfs	p.KTN87fs	NRIP3_ENST00000531090.1_Frame_Shift_Del_p.KTN87fs	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	87							aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ATTGAGTTTGTTCGTCTTAGAGGCCCA	0.483																																						uc001mhg.2		NA																	0					0						c.(259-267)AAGACGAACfs		nuclear receptor interacting protein 3																																				SO:0001589	frameshift_variant	56675				proteolysis		aspartic-type endopeptidase activity	g.chr11:9009738_9009744delTTCGTCT	AJ400877	CCDS31422.1	11p15.3	2008-02-05	2003-09-03	2003-09-05	ENSG00000175352	ENSG00000175352			1167	protein-coding gene	gene with protein product		613125	"""chromosome 11 open reading frame 14"""	C11orf14		11528127	Standard	NM_020645		Approved		uc001mhg.2	Q9NQ35	OTTHUMG00000165680	ENST00000309166.3:c.260_266delAGACGAA	11.37:g.9009738_9009744delTTCGTCT	ENSP00000310205:p.Lys87fs					NRIP3_uc010rbu.1_Frame_Shift_Del_p.K87fs	p.K87fs	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN		Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)	2	374_380	-			87_89					Q86WD9	Frame_Shift_Del	DEL	ENST00000309166.3	37	c.260_266delAGACGAA	CCDS31422.1																																																																																				0.483	NRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385774.1	NM_020645		57	208	NA	NA	NA	NA	57	208	---	---	---	---
TFCP2	7024	broad.mit.edu	37	12	51504737	51504739	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr12:51504737_51504739delGAT	ENST00000257915.5	-	5	943_945	c.485_487delATC	c.(484-489)gatcct>gct	p.162_163DP>A	TFCP2_ENST00000307660.4_In_Frame_Del_p.162_163DP>A|TFCP2_ENST00000548115.1_In_Frame_Del_p.162_163DP>A|TFCP2_ENST00000549867.1_In_Frame_Del_p.162_163DP>A	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	162	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TTAGCCCTAGGATCGATTATACC	0.409																																						uc001rxw.2		NA																	0				ovary(1)	1						c.(484-489)GATCCT>GCT		transcription factor CP2																																				SO:0001651	inframe_deletion	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51504737_51504739delGAT	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.485_487delATC	12.37:g.51504737_51504739delGAT	ENSP00000257915:p.Asp162_Pro163delinsAla					TFCP2_uc001rxv.1_In_Frame_Del_p.162_163DP>A|TFCP2_uc009zlx.1_In_Frame_Del_p.162_163DP>A|TFCP2_uc001rxx.2_In_Frame_Del_p.162_163DP>A|TFCP2_uc009zly.1_In_Frame_Del_p.64_65DP>A	p.162_163DP>A	NM_005653	NP_005644	Q12800	TFCP2_HUMAN			5	944_946	-			162_163			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	In_Frame_Del	DEL	ENST00000257915.5	37	c.485_487delATC	CCDS8808.1																																																																																				0.409	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653		84	234	NA	NA	NA	NA	84	234	---	---	---	---
LRPPRC	10128	broad.mit.edu	37	2	44174430	44174430	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:44174430delA	ENST00000260665.7	-	20	2102	c.2045delT	c.(2044-2046)ctafs	p.L682fs		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	682					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAGTTGCTTTAGGACATCTCT	0.299																																						uc002rtr.2		NA																	0				ovary(2)|skin(1)	3						c.(2044-2046)CTAfs		leucine-rich PPR motif-containing protein							121.0	114.0	116.0					2																	44174430		2202	4297	6499	SO:0001589	frameshift_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44174430delA	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2045delT	2.37:g.44174430delA	ENSP00000260665:p.Leu682fs					LRPPRC_uc010yob.1_Frame_Shift_Del_p.L582fs	p.L682fs	NM_133259	NP_573566	P42704	LPPRC_HUMAN			20	2103	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	682			PPR 9.		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Frame_Shift_Del	DEL	ENST00000260665.7	37	c.2045delT	CCDS33189.1																																																																																				0.299	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259		26	54	NA	NA	NA	NA	26	54	---	---	---	---
ARHGAP15	55843	broad.mit.edu	37	2	144381721	144381727	+	Frame_Shift_Del	DEL	CGACAGC	CGACAGC	-	rs138120208|rs527658023	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:144381721_144381727delCGACAGC	ENST00000295095.6	+	12	1190_1196	c.1023_1029delCGACAGC	c.(1021-1029)gacgacagcfs	p.DDS341fs		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	341	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGTGGGAGG	0.449																																						uc002tvm.3		NA																	0				ovary(1)|skin(1)	2						c.(1021-1029)GACGACAGCfs		ARHGAP15																																				SO:0001589	frameshift_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381721_144381727delCGACAGC	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1023_1029delCGACAGC	2.37:g.144381721_144381727delCGACAGC	ENSP00000295095:p.Asp341fs					ARHGAP15_uc002tvn.2_Frame_Shift_Del_p.D107fs	p.D341fs	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	12	1174_1180	+			341_343			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Frame_Shift_Del	DEL	ENST00000295095.6	37	c.1023_1029delCGACAGC	CCDS2184.1																																																																																				0.449	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		27	47	NA	NA	NA	NA	27	47	---	---	---	---
HSPD1	3329	broad.mit.edu	37	2	198353732	198353732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr2:198353732delC	ENST00000388968.3	-	9	1476	c.1209delG	c.(1207-1209)gtgfs	p.V403fs	HSPD1_ENST00000345042.2_Frame_Shift_Del_p.V403fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	403					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TTACCTTCAGCACAGCCACTC	0.363																																						uc002uui.2		NA																	0					0						c.(1207-1209)GTGfs		chaperonin							85.0	85.0	85.0					2																	198353732		2202	4300	6502	SO:0001589	frameshift_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198353732delC	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.1209delG	2.37:g.198353732delC	ENSP00000373620:p.Val403fs					HSPD1_uc002uuj.2_Frame_Shift_Del_p.V401fs|HSPD1_uc010zgx.1_Frame_Shift_Del_p.V394fs|HSPD1_uc010fsm.2_Frame_Shift_Del_p.V214fs|HSPD1_uc002uuk.2_Frame_Shift_Del_p.V403fs	p.V403fs	NM_002156	NP_002147	P10809	CH60_HUMAN	Epithelial(96;0.225)		9	1346	-			403					B2R5M6|B7Z712|Q38L19|Q9UCR6	Frame_Shift_Del	DEL	ENST00000388968.3	37	c.1209delG	CCDS33357.1																																																																																				0.363	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		51	133	NA	NA	NA	NA	51	133	---	---	---	---
BBX	56987	broad.mit.edu	37	3	107492152	107492152	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:107492152delG	ENST00000325805.8	+	11	1871	c.1584delG	c.(1582-1584)aagfs	p.K530fs	BBX_ENST00000406780.1_Frame_Shift_Del_p.K530fs|BBX_ENST00000415149.2_Frame_Shift_Del_p.K530fs|BBX_ENST00000402543.1_Frame_Shift_Del_p.K530fs|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	530	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGCCACCAAAGAAAAAAGTGA	0.448																																						uc010hpr.2		NA																	0				ovary(3)|skin(1)	4						c.(1582-1584)AAGfs		HMG-BOX transcription factor BBX isoform 1							73.0	74.0	74.0					3																	107492152		2203	4300	6503	SO:0001589	frameshift_variant	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107492152delG	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1584delG	3.37:g.107492152delG	ENSP00000319974:p.Lys530fs					BBX_uc003dwk.3_Frame_Shift_Del_p.K528fs|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Frame_Shift_Del_p.K549fs|BBX_uc003dwm.3_Frame_Shift_Del_p.K528fs|BBX_uc003dwo.3_5'Flank	p.K528fs	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1911	+			528			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Frame_Shift_Del	DEL	ENST00000325805.8	37	c.1584delG	CCDS46881.1																																																																																				0.448	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		41	93	NA	NA	NA	NA	41	93	---	---	---	---
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						uc003erv.2		NA																	0					0						c.(1621-1626)GATGAT>GAT		debranching enzyme homolog 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del					DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D	p.541_542DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN			8	1759_1761	-			541_542					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			8	440	NA	NA	NA	NA	8	440	---	---	---	---
CCNG2	901	broad.mit.edu	37	4	78081937	78081939	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr4:78081937_78081939delGAA	ENST00000316355.5	+	4	696_698	c.340_342delGAA	c.(340-342)gaadel	p.E115del	CCNG2_ENST00000502280.1_In_Frame_Del_p.E115del|CCNG2_ENST00000395640.1_In_Frame_Del_p.E115del|CCNG2_ENST00000354403.5_In_Frame_Del_p.E115del|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_In_Frame_Del_p.E115del	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	115					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGAATAGTTGAAGAAGACTGCA	0.365																																						uc003hkq.3		NA																	0				ovary(2)|lung(1)	3						c.(340-342)GAAdel		cyclin G2																																				SO:0001651	inframe_deletion	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78081937_78081939delGAA	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.340_342delGAA	4.37:g.78081940_78081942delGAA	ENSP00000315743:p.Glu115del					CCNG2_uc003hkn.3_In_Frame_Del_p.E115del|CCNG2_uc011ccc.1_In_Frame_Del_p.E115del|CCNG2_uc003hkp.3_In_Frame_Del_p.E115del	p.E115del	NM_004354	NP_004345	Q16589	CCNG2_HUMAN			4	643_645	+			115					B4DF25|Q6FGA7|Q6FGC6	In_Frame_Del	DEL	ENST00000316355.5	37	c.340_342delGAA	CCDS3581.1																																																																																				0.365	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		71	183	NA	NA	NA	NA	71	183	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113697953	113697953	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr8:113697953delG	ENST00000297405.5	-	15	2408	c.2164delC	c.(2164-2166)ctgfs	p.L722fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L722fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L682fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.L618fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	722	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTAGACAGGCAGGGAACT	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2164-2166)CTGfs		CUB and Sushi multiple domains 3 isoform 1							62.0	67.0	65.0					8																	113697953		2203	4300	6503	SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113697953delG	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2164delC	8.37:g.113697953delG	ENSP00000297405:p.Leu722fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Frame_Shift_Del_p.L682fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.L618fs	p.L722fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2323	-			722			Extracellular (Potential).|CUB 4.		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.2164delC	CCDS6315.1																																																																																				0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		108	99	NA	NA	NA	NA	108	99	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79320938	79320939	+	Frame_Shift_Ins	INS	-	-	CCAT			TCGA-BA-4077-01B-01D-1434-08	TCGA-BA-4077-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9b37211a-2150-4d33-bc6a-9d6a0a429708	cdf04127-a808-4733-919c-377f25f12306	g.chr9:79320938_79320939insCCAT	ENST00000376718.3	-	8	6374_6375	c.6251_6252insATGG	c.(6250-6252)ggtfs	p.-2084fs	PRUNE2_ENST00000428286.1_Frame_Shift_Ins_p.-1725fs	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGGATTCTCACCATCTGCTTT	0.49																																						uc010mpk.2		NA																	0					0						c.(6250-6252)GGTfs		prune homolog 2																																				SO:0001589	frameshift_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320938_79320939insCCAT	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6248_6251dupATGG	9.37:g.79320939_79320942dupCCAT	ENSP00000365908:p.Gly2084fs					PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.G2084fs	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	6375_6376	-			2084					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Frame_Shift_Ins	INS	ENST00000376718.3	37	c.6251_6252insATGG	CCDS47982.1																																																																																				0.490	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		43	269	NA	NA	NA	NA	43	269	---	---	---	---
