#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
PLEKHN1	84069	broad.mit.edu	37	1	909316	909316	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:909316G>T	ENST00000379409.2	+	13	1724	c.1694G>T	c.(1693-1695)gGc>gTc	p.G565V	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G513V|PLEKHN1_ENST00000379407.3_Missense_Mutation_p.G478V			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	565										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGCTCCTCCGGCCCCGCTGGC	0.692																																						uc001ace.2		NA																	0					0						c.(1693-1695)GGC>GTC		pleckstrin homology domain containing, family N							22.0	25.0	24.0					1																	909316		2198	4292	6490	SO:0001583	missense	84069							g.chr1:909316G>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1694G>T	1.37:g.909316G>T	ENSP00000368719:p.Gly565Val					PLEKHN1_uc001acd.2_Missense_Mutation_p.G513V|PLEKHN1_uc001acf.2_Missense_Mutation_p.G478V	p.G565V	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	13	1729	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	565					Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	ENST00000379409.2	37	c.1694G>T		.	.	.	.	.	.	.	.	.	.	G	0.430	-0.903821	0.02453	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.48836	0.83;0.8;0.83	2.05	2.05	0.26809	.	0.100300	0.37483	N	0.002079	T	0.44414	0.1292	L	0.29908	0.895	0.21064	N	0.999796	P;D;P	0.55385	0.92;0.971;0.92	P;P;P	0.55391	0.714;0.775;0.714	T	0.17837	-1.0356	10	0.62326	D	0.03	.	7.6209	0.28185	0.0:0.0:1.0:0.0	.	478;565;513	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	V	513;478;565	ENSP00000368720:G513V;ENSP00000368717:G478V;ENSP00000368719:G565V	ENSP00000368717:G478V	G	+	2	0	PLEKHN1	899179	0.005000	0.15991	0.002000	0.10522	0.003000	0.03518	2.260000	0.43267	1.443000	0.47586	0.417000	0.27973	GGC		0.692	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		6	28	1	0	3.6e-05	4.28e-05	6	28				
CCNL2	81669	broad.mit.edu	37	1	1325617	1325617	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:1325617G>A	ENST00000400809.3	-	8	1004	c.999C>T	c.(997-999)ccC>ccT	p.P333P	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Silent_p.P111P	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	333					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CACCCAGCTTGGGGGCAGGAG	0.597																																						uc001afi.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(997-999)CCC>CCT		cyclin L2 isoform A							69.0	77.0	74.0					1																	1325617		2203	4296	6499	SO:0001819	synonymous_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1325617G>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.999C>T	1.37:g.1325617G>A						CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Silent_p.P111P|CCNL2_uc001afg.1_Silent_p.P111P|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	p.P333P	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	8	1031	-	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)	333					A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	c.999C>T	CCDS30557.1	.	.	.	.	.	.	.	.	.	.	G	1.002	-0.690545	0.03303	.	.	ENSG00000221978	ENST00000408952	.	.	.	5.13	0.808	0.18719	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	2.3209	0.04211	0.1989:0.4146:0.2448:0.1416	.	.	.	.	X	110	.	ENSP00000386132:Q110X	Q	-	1	0	CCNL2	1315480	0.611000	0.26992	0.999000	0.59377	0.157000	0.22087	-0.277000	0.08502	0.319000	0.23209	-0.133000	0.14855	CAA		0.597	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		24	140	0	0	0	0	24	140				
CLCNKA	1187	broad.mit.edu	37	1	16359665	16359665	+	Splice_Site	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:16359665G>A	ENST00000331433.4	+	19	1949	c.1930G>A	c.(1930-1932)Gca>Aca	p.A644T	CLCNKA_ENST00000420078.1_Splice_Site_p.A643T|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Splice_Site_p.A643T|CLCNKA_ENST00000439316.2_Splice_Site_p.A601T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	644	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		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;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCCCATCCAGGCACAAAACCT	0.627											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001axu.2		NA																	0				ovary(1)	1						c.(1930-1932)GCA>ACA		chloride channel Ka isoform 1	Niflumic Acid(DB04552)						166.0	138.0	148.0					1																	16359665		2203	4300	6503	SO:0001630	splice_region_variant	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16359665G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1930-1G>A	1.37:g.16359665G>A			OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	709	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A643T|CLCNKA_uc010obw.1_Missense_Mutation_p.A601T|CLCNKB_uc001axw.3_Intron	p.A644T	NM_004070	NP_004061	P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	19	2010	+		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)	644			CBS 2.		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1930G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711066	0.30322	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	3.02	1.63	0.23807	Cystathionine beta-synthase, core (2);	0.062472	0.64402	D	0.000005	D	0.91981	0.7460	L	0.35723	1.085	0.48901	D	0.999727	B;B;B	0.28850	0.225;0.225;0.225	B;B;B	0.42282	0.382;0.262;0.262	T	0.83154	-0.0102	9	.	.	.	.	4.6814	0.12736	0.2747:0.0:0.7253:0.0	.	601;643;644	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	T	643;643;601;644	ENSP00000364844:A643T;ENSP00000410353:A643T;ENSP00000414445:A601T;ENSP00000332771:A644T	.	A	+	1	0	CLCNKA	16232252	1.000000	0.71417	0.995000	0.50966	0.304000	0.27724	2.175000	0.42491	0.279000	0.22186	0.313000	0.20887	GCA		0.627	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1		Missense_Mutation	4	205	0	0	0	0	4	205				
GPSM2	29899	broad.mit.edu	37	1	109446790	109446790	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:109446790C>G	ENST00000406462.2	+	11	1879	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*	GPSM2_ENST00000264126.3_Nonsense_Mutation_p.S369*|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	369					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTTAATCTCTCAGACCTTCAA	0.348																																						uc010ovc.1		NA																	0				central_nervous_system(1)	1						c.(1105-1107)TCA>TGA		LGN protein							89.0	85.0	86.0					1																	109446790		2203	4300	6503	SO:0001587	stop_gained	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109446790C>G	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1106C>G	1.37:g.109446790C>G	ENSP00000385510:p.Ser369*					AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Nonsense_Mutation_p.S369*|GPSM2_uc010ove.1_Nonsense_Mutation_p.S369*	p.S369*	NM_013296	NP_037428	P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	10	1602	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	369					Q5T1N8|Q6IBL7|Q8N0Z5	Nonsense_Mutation	SNP	ENST00000406462.2	37	c.1106C>G	CCDS792.2	.	.	.	.	.	.	.	.	.	.	C	43	10.051525	0.99325	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-1.9863	18.1786	0.89769	0.0:1.0:0.0:0.0	.	.	.	.	X	369	.	ENSP00000264126:S369X	S	+	2	0	GPSM2	109248313	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.463000	0.80869	2.729000	0.93468	0.655000	0.94253	TCA		0.348	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	NM_013296		7	40	0	0	0	0	7	40				
PDE4DIP	9659	broad.mit.edu	37	1	144882464	144882464	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:144882464G>A	ENST00000369354.3	-	24	3744	c.3555C>T	c.(3553-3555)ttC>ttT	p.F1185F	PDE4DIP_ENST00000530740.1_Silent_p.F1322F|PDE4DIP_ENST00000369356.4_Silent_p.F1185F|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Silent_p.F1322F|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1185					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CATCCACTGTGAAGGTAGCCC	0.502			T	PDGFRB	MPD																																	uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3553-3555)TTC>TTT		phosphodiesterase 4D interacting protein isoform							76.0	71.0	73.0					1																	144882464		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882464G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3555C>T	1.37:g.144882464G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Silent_p.F192F	p.F1185F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	24	3846	-			1185					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.3555C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255516	0.01457	.	.	ENSG00000178104	ENST00000530592	.	.	.	5.75	-3.0	0.05480	.	.	.	.	.	T	0.06690	0.0171	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34527	-0.9825	4	.	.	.	.	1.7563	0.02983	0.4614:0.1392:0.257:0.1423	.	.	.	.	Y	80	.	.	H	-	1	0	PDE4DIP	143593821	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.091000	0.11146	-0.155000	0.11098	-0.345000	0.07892	CAC		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		7	107	0	0	0	0	7	107				
ATP1A2	477	broad.mit.edu	37	1	160109515	160109515	+	Missense_Mutation	SNP	C	C	T	rs371742379		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:160109515C>T	ENST00000361216.3	+	21	3015	c.2926C>T	c.(2926-2928)Cgc>Tgc	p.R976C	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R976C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	976					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGTAGCCCTCCGCATGTACCC	0.557																																						uc001fvc.2		NA																	0				central_nervous_system(3)|ovary(2)|skin(2)	7						c.(2926-2928)CGC>TGC		Na+/K+ -ATPase alpha 2 subunit proprotein		C	CYS/ARG	0,4406		0,0,2203	94.0	83.0	87.0		2926	4.4	1.0	1		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP1A2	NM_000702.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	976/1021	160109515	1,13005	2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160109515C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2926C>T	1.37:g.160109515C>T	ENSP00000354490:p.Arg976Cys					ATP1A2_uc001fvd.2_Missense_Mutation_p.R695C	p.R976C	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		21	3058	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		976			Extracellular (Potential).		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2926C>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713159	0.68730	0.0	1.16E-4	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.89123	-2.47;-2.47	4.37	4.37	0.52481	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.67900	0.905;0.954	D	0.94659	0.7846	10	0.87932	D	0	.	9.942	0.41587	0.2027:0.7973:0.0:0.0	.	876;976	F5GXJ7;P50993	.;AT1A2_HUMAN	C	976;976;679	ENSP00000354490:R976C;ENSP00000376066:R976C	ENSP00000354490:R976C	R	+	1	0	ATP1A2	158376139	0.783000	0.28701	1.000000	0.80357	0.998000	0.95712	1.539000	0.36104	2.420000	0.82092	0.655000	0.94253	CGC		0.557	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		18	47	0	0	0	0	18	47				
SOX13	9580	broad.mit.edu	37	1	204082212	204082212	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:204082212G>A	ENST00000367204.1	+	2	278	c.169G>A	c.(169-171)Gat>Aat	p.D57N	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	57					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGCCTCCCAGGATAGTGCTGA	0.652																																						uc001ham.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(169-171)GAT>AAT		SRY-box 13							10.0	12.0	12.0					1																	204082212		1878	4107	5985	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204082212G>A		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.169G>A	1.37:g.204082212G>A	ENSP00000356172:p.Asp57Asn					SOX13_uc001hal.2_Missense_Mutation_p.D57N|SOX13_uc010pqp.1_Missense_Mutation_p.D57N|SOX13_uc010pqq.1_5'Flank	p.D57N	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		2	764	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		57					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.169G>A	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890667	0.52014	.	.	ENSG00000143842	ENST00000367204;ENST00000525442;ENST00000528591	D	0.97575	-4.44	5.68	4.77	0.60923	.	0.417107	0.23569	N	0.046778	D	0.91747	0.7390	N	0.22421	0.69	0.27606	N	0.948829	B;B	0.10296	0.0;0.003	B;B	0.09377	0.0;0.004	T	0.77000	-0.2750	10	0.02654	T	1	.	12.682	0.56926	0.0773:0.0:0.9227:0.0	.	57;39	Q9UN79;Q5SXX2	SOX13_HUMAN;.	N	57	ENSP00000356172:D57N	ENSP00000356172:D57N	D	+	1	0	SOX13	202348835	0.970000	0.33590	0.910000	0.35882	0.656000	0.38851	4.397000	0.59690	1.401000	0.46761	0.591000	0.81541	GAT		0.652	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		5	18	0	0	0	0	5	18				
RBM34	23029	broad.mit.edu	37	1	235324324	235324324	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:235324324C>T	ENST00000408888.3	-	2	342	c.112G>A	c.(112-114)Gtc>Atc	p.V38I	RBM34_ENST00000366606.3_Missense_Mutation_p.V33I			P42696	RBM34_HUMAN	RNA binding motif protein 34	38						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CTACTGGCGACCTGTCCAAGC	0.597																																						uc001hwn.2		NA																	0				central_nervous_system(1)	1						c.(112-114)GTC>ATC		RNA binding motif protein 34 isoform 1							36.0	43.0	40.0					1																	235324324		1979	4158	6137	SO:0001583	missense	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235324324C>T		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.112G>A	1.37:g.235324324C>T	ENSP00000386226:p.Val38Ile					RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.V38I	p.V38I	NM_015014	NP_055829	P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		2	142	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	38					A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	37	c.112G>A	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822843	0.90873	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000400947;ENST00000447801;ENST00000429912	T;T;T	0.36157	2.04;1.96;1.27	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.994	T	0.60296	-0.7291	10	0.45353	T	0.12	-10.2925	15.9027	0.79392	0.0:1.0:0.0:0.0	.	38;38	P42696-2;P42696	.;RBM34_HUMAN	I	38;33;38;36;38	ENSP00000386226:V38I;ENSP00000355565:V33I;ENSP00000400000:V36I	ENSP00000355565:V33I	V	-	1	0	RBM34	233390947	1.000000	0.71417	0.998000	0.56505	0.532000	0.34746	3.813000	0.55636	2.536000	0.85505	0.655000	0.94253	GTC		0.597	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		4	64	0	0	0	0	4	64				
CEP170	9859	broad.mit.edu	37	1	243362360	243362360	+	Splice_Site	SNP	A	A	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:243362360A>G	ENST00000366542.1	-	7	683		c.e7+1		CEP170_ENST00000366543.1_Splice_Site|CEP170_ENST00000366544.1_Splice_Site	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa							centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AGATTTTTTTACCTGATGTTC	0.403																																						uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.e7+1		centrosomal protein 170kDa isoform alpha							72.0	60.0	63.0					1																	243362360		1813	4075	5888	SO:0001630	splice_region_variant	9859					centriole|microtubule|spindle		g.chr1:243362360A>G	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.631+1T>C	1.37:g.243362360A>G						CEP170_uc001hzt.2_Splice_Site_p.G211_splice|CEP170_uc001hzu.2_Splice_Site_p.G211_splice	p.G211_splice	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		7	1039	-	all_neural(11;0.101)	all_cancers(173;0.003)						O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Splice_Site	SNP	ENST00000366542.1	37	c.631_splice	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.913955	0.33815	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000336415;ENST00000424081	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8022	0.69924	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP170	241428983	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	5.414000	0.66405	1.908000	0.55244	0.374000	0.22700	.		0.403	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	Intron	5	36	0	0	0	0	5	36				
OR2T12	127064	broad.mit.edu	37	1	248458187	248458187	+	Missense_Mutation	SNP	G	G	A	rs200352170		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:248458187G>A	ENST00000317996.1	-	1	693	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCCTTCTTGCGGGCTTCTGTA	0.522																																						uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(694-696)CGC>TGC		olfactory receptor, family 2, subfamily T,							100.0	94.0	96.0					1																	248458187		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458187G>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.694C>T	1.37:g.248458187G>A	ENSP00000324583:p.Arg232Cys						p.R232C	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	694	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		232			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.694C>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	10.81	1.454126	0.26161	.	.	ENSG00000177201	ENST00000317996	T	0.00337	8.05	1.55	0.316	0.15857	GPCR, rhodopsin-like superfamily (1);	0.870947	0.09313	U	0.819284	T	0.00384	0.0012	M	0.85945	2.785	0.09310	N	0.999998	B	0.24368	0.102	B	0.24269	0.052	T	0.31833	-0.9929	10	0.59425	D	0.04	.	7.1649	0.25685	0.0:0.0:0.5344:0.4655	.	232	Q8NG77	O2T12_HUMAN	C	232	ENSP00000324583:R232C	ENSP00000324583:R232C	R	-	1	0	OR2T12	246524810	0.000000	0.05858	0.169000	0.22859	0.670000	0.39368	-0.554000	0.06006	0.645000	0.30675	0.175000	0.17021	CGC		0.522	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		24	86	0	0	0	0	24	86				
IL2RA	3559	broad.mit.edu	37	10	6066285	6066285	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:6066285G>C	ENST00000379959.3	-	3	462	c.289C>G	c.(289-291)Caa>Gaa	p.Q97E	IL2RA_ENST00000256876.6_Missense_Mutation_p.Q97E|IL2RA_ENST00000379954.1_Missense_Mutation_p.Q97E|RP11-536K7.5_ENST00000440436.1_RNA	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	97					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCTTCAGGTTGAGGTGTCACT	0.423																																						uc001iiz.1		NA																	0				ovary(1)|skin(1)	2						c.(289-291)CAA>GAA		interleukin 2 receptor, alpha chain precursor	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						296.0	233.0	254.0					10																	6066285		2203	4300	6503	SO:0001583	missense	3559				cell proliferation	integral to membrane	interleukin-2 receptor activity	g.chr10:6066285G>C	X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.289C>G	10.37:g.6066285G>C	ENSP00000369293:p.Gln97Glu					IL2RA_uc009xih.1_Missense_Mutation_p.Q97E|IL2RA_uc001ija.1_Missense_Mutation_p.Q59E	p.Q97E	NM_000417	NP_000408	P01589	IL2RA_HUMAN			3	448	-			97			Extracellular (Potential).		Q5W007	Missense_Mutation	SNP	ENST00000379959.3	37	c.289C>G	CCDS7076.1	.	.	.	.	.	.	.	.	.	.	G	2.329	-0.353714	0.05173	.	.	ENSG00000134460	ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	T;T;T	0.43294	1.54;0.95;1.54	3.87	-0.594	0.11664	.	0.944491	0.08871	N	0.881581	T	0.23532	0.0569	L	0.38175	1.15	0.09310	N	1	B;B;P	0.39782	0.035;0.392;0.688	B;B;B	0.30572	0.011;0.117;0.095	T	0.15263	-1.0443	10	0.13108	T	0.6	-10.89	6.6	0.22695	0.0:0.2818:0.5059:0.2123	.	97;83;97	Q5W005;E9PF94;P01589	.;.;IL2RA_HUMAN	E	97;83;97;97	ENSP00000369293:Q97E;ENSP00000369287:Q97E;ENSP00000256876:Q97E	ENSP00000256876:Q97E	Q	-	1	0	IL2RA	6106291	0.008000	0.16893	0.055000	0.19348	0.090000	0.18270	-0.047000	0.11963	-0.098000	0.12285	0.462000	0.41574	CAA		0.423	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046627.1	NM_000417		6	46	0	0	0	0	6	46				
ITGA8	8516	broad.mit.edu	37	10	15628625	15628625	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:15628625A>G	ENST00000378076.3	-	23	2683	c.2330T>C	c.(2329-2331)cTg>cCg	p.L777P		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	777					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTGATTTGCAGGCTCACAAA	0.358																																						uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(2329-2331)CTG>CCG		integrin, alpha 8 precursor							142.0	128.0	133.0					10																	15628625		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15628625A>G	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2330T>C	10.37:g.15628625A>G	ENSP00000367316:p.Leu777Pro					ITGA8_uc010qcb.1_Missense_Mutation_p.L762P	p.L777P	NM_003638	NP_003629	P53708	ITA8_HUMAN			23	2330	-			777			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2330T>C	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750608	0.69533	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.56611	0.45	5.32	5.32	0.75619	Integrin alpha-2 (1);	0.063898	0.64402	D	0.000005	T	0.72763	0.3501	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.968;0.981	T	0.76075	-0.3092	10	0.54805	T	0.06	.	14.4031	0.67063	1.0:0.0:0.0:0.0	.	762;777	F5H818;P53708	.;ITA8_HUMAN	P	777;762	ENSP00000367316:L777P	ENSP00000367316:L777P	L	-	2	0	ITGA8	15668631	1.000000	0.71417	0.981000	0.43875	0.944000	0.59088	5.692000	0.68256	2.131000	0.65755	0.528000	0.53228	CTG		0.358	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		8	34	0	0	0	0	8	34				
LDB3	11155	broad.mit.edu	37	10	88452313	88452313	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:88452313C>T	ENST00000361373.4	+	6	902	c.881C>T	c.(880-882)gCt>gTt	p.A294V	LDB3_ENST00000310944.6_Missense_Mutation_p.A294V|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000429277.2_Missense_Mutation_p.A362V|LDB3_ENST00000458213.2_Missense_Mutation_p.A247V|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000263066.6_Missense_Mutation_p.A247V|LDB3_ENST00000372066.3_Missense_Mutation_p.A247V|LDB3_ENST00000372056.4_Missense_Mutation_p.A362V	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GATGAAGAAGCTCTGCGAAGG	0.602																																						uc001kdv.2		NA																	0				ovary(1)	1						c.(880-882)GCT>GTT		LIM domain binding 3 isoform 1							135.0	117.0	123.0					10																	88452313		2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88452313C>T	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.881C>T	10.37:g.88452313C>T	ENSP00000355296:p.Ala294Val					LDB3_uc010qml.1_Missense_Mutation_p.A294V|LDB3_uc010qmm.1_Missense_Mutation_p.A362V|LDB3_uc001kdu.2_Missense_Mutation_p.A247V|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Missense_Mutation_p.A247V|LDB3_uc009xsy.2_Missense_Mutation_p.A362V|LDB3_uc001kds.2_Missense_Mutation_p.A294V|LDB3_uc001kdt.2_RNA	p.A294V	NM_007078	NP_009009	O75112	LDB3_HUMAN			6	904	+			294						Missense_Mutation	SNP	ENST00000361373.4	37	c.881C>T	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105431	0.94245	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373	T;T;T;T;T;T;T	0.54866	0.67;0.55;1.09;0.55;1.0;1.17;0.57	5.92	5.92	0.95590	.	.	.	.	.	T	0.69097	0.3073	L	0.53249	1.67	0.80722	D	1	D;P;D;D;D;P;B	0.89917	0.999;0.544;1.0;0.999;0.998;0.815;0.073	D;B;D;D;D;B;B	0.85130	0.994;0.34;0.997;0.994;0.994;0.421;0.106	T	0.60125	-0.7324	9	0.21540	T	0.41	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	362;294;362;294;247;294;247	B4E3K3;F5H0C2;O75112-4;O75112;O75112-2;O75112-5;O75112-6	.;.;.;LDB3_HUMAN;.;.;.	V	294;362;247;247;247;362;294;294	ENSP00000401437:A362V;ENSP00000409148:A247V;ENSP00000361136:A247V;ENSP00000263066:A247V;ENSP00000361126:A362V;ENSP00000311913:A294V;ENSP00000355296:A294V	ENSP00000263066:A247V	A	+	2	0	LDB3	88442293	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.280000	0.78610	2.804000	0.96469	0.655000	0.94253	GCT		0.602	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			15	86	0	0	0	0	15	86				
NOLC1	9221	broad.mit.edu	37	10	103921945	103921945	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr10:103921945G>A	ENST00000605788.1	+	13	2254	c.2019G>A	c.(2017-2019)gaG>gaA	p.E673E	NOLC1_ENST00000488254.2_Silent_p.E674E|NOLC1_ENST00000405356.1_Silent_p.E683E|NOLC1_ENST00000603742.1_Silent_p.E392E|NOLC1_ENST00000477977.1_Intron	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	673					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TTCGGCATGAGAAAACCAAGA	0.527																																						uc001kuo.2		NA																	0				ovary(1)	1						c.(2017-2019)GAG>GAA		nucleolar and coiled-body phosphoprotein 1							161.0	180.0	174.0					10																	103921945		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103921945G>A	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.2019G>A	10.37:g.103921945G>A						NOLC1_uc001kup.2_Silent_p.E683E|NOLC1_uc001kuq.2_Silent_p.E674E|NOLC1_uc009xxb.1_Silent_p.E392E|NOLC1_uc001kur.2_Silent_p.E392E	p.E673E	NM_004741	NP_004732	Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	13	2254	+		Colorectal(252;0.122)	673					Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.2019G>A	CCDS7530.1																																																																																				0.527	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		55	288	0	0	0	0	55	288				
MUC5B	727897	broad.mit.edu	37	11	1271810	1271810	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:1271810C>A	ENST00000529681.1	+	31	13758	c.13700C>A	c.(13699-13701)gCc>gAc	p.A4567D	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A4570D	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4567	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			A -> T (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCTTACCGCCACGGCCACC	0.647																																						uc009ycr.1		NA																	0					0						c.(15118-15120)GCC>GAC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							125.0	162.0	150.0					11																	1271810		2068	4196	6264	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271810C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13700C>A	11.37:g.1271810C>A	ENSP00000436812:p.Ala4567Asp					MUC5B_uc001ltb.2_Missense_Mutation_p.A4570D	p.A5040D	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	15245	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4567	A -> T (in Ref. 4; CAA96577).		23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15119C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	4.770	0.143173	0.09083	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.21932	1.98;2.16	2.37	-0.0209	0.13954	.	.	.	.	.	T	0.11067	0.0270	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.13407	0.009;0.006	T	0.28299	-1.0048	9	0.87932	D	0	.	4.7238	0.12931	0.0:0.6264:0.2157:0.1579	.	5040;4570	A7Y9J9;E9PBJ0	.;.	D	4567;4570;4511;4417;344	ENSP00000436812:A4567D;ENSP00000415793:A4570D	ENSP00000343037:A4511D	A	+	2	0	MUC5B	1228386	0.001000	0.12720	0.000000	0.03702	0.036000	0.12997	1.142000	0.31540	-0.408000	0.07565	0.184000	0.17185	GCC		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		83	240	1	0	4.19e-30	5.4e-30	83	240				
NLRP14	338323	broad.mit.edu	37	11	7059962	7059962	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:7059962G>A	ENST00000299481.4	+	2	491	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	49	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACCCTGGAATGAAGTGAAGAA	0.438																																						uc001mfb.1		NA																	0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(145-147)GAA>AAA		NLR family, pyrin domain containing 14							63.0	69.0	67.0					11																	7059962		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7059962G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.145G>A	11.37:g.7059962G>A	ENSP00000299481:p.Glu49Lys						p.E49K	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	468	+			49			DAPIN.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.145G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447194	0.25987	.	.	ENSG00000158077	ENST00000299481	T	0.59772	0.24	4.22	1.22	0.21188	Pyrin (2);DEATH-like (2);	0.492187	0.17234	N	0.181808	T	0.47192	0.1432	L	0.49571	1.57	0.19775	N	0.99995	B	0.34181	0.44	B	0.35114	0.196	T	0.39292	-0.9621	10	0.52906	T	0.07	.	6.214	0.20646	0.102:0.3668:0.5312:0.0	.	49	Q86W24	NAL14_HUMAN	K	49	ENSP00000299481:E49K	ENSP00000299481:E49K	E	+	1	0	NLRP14	7016538	0.020000	0.18652	0.126000	0.21872	0.472000	0.32918	0.656000	0.24948	0.288000	0.22398	-0.165000	0.13383	GAA		0.438	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		10	85	0	0	0	0	10	85				
E2F8	79733	broad.mit.edu	37	11	19259523	19259523	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:19259523T>C	ENST00000527884.1	-	3	404	c.172A>G	c.(172-174)Aca>Gca	p.T58A	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.T58A	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	58					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTGTCGGTGTCCACGGCTCT	0.517																																						uc001mpm.2		NA																	0				skin(1)	1						c.(172-174)ACA>GCA		E2F family member 8							165.0	167.0	166.0					11																	19259523		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19259523T>C		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.172A>G	11.37:g.19259523T>C	ENSP00000434199:p.Thr58Ala					E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.T58A|E2F8_uc001mpo.1_Missense_Mutation_p.T58A	p.T58A	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			3	694	-			58					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.172A>G	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.823024	0.90873	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024;ENST00000532666	T;T;T	0.67345	0.87;0.87;-0.26	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.84033	0.0360	10	0.54805	T	0.06	-18.715	15.3277	0.74179	0.0:0.0:0.0:1.0	.	58	A0AVK6	E2F8_HUMAN	A	58	ENSP00000434199:T58A;ENSP00000250024:T58A;ENSP00000437326:T58A	ENSP00000250024:T58A	T	-	1	0	E2F8	19216099	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.968000	0.87980	2.144000	0.66660	0.533000	0.62120	ACA		0.517	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		3	172	0	0	0	0	3	172				
LRP4	4038	broad.mit.edu	37	11	46917452	46917452	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:46917452T>A	ENST00000378623.1	-	10	1408	c.1166A>T	c.(1165-1167)gAt>gTt	p.D389V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	389	EGF-like 1; calcium-binding. {ECO:0000255}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGTGTGCCCATCCTCTGTGAG	0.612																																						uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1165-1167)GAT>GTT		low density lipoprotein receptor-related protein							76.0	63.0	68.0					11																	46917452		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46917452T>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1166A>T	11.37:g.46917452T>A	ENSP00000367888:p.Asp389Val						p.D389V	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	10	1312	-			389			Extracellular (Potential).|EGF-like 1; calcium-binding (Potential).		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.1166A>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497720	0.85069	.	.	ENSG00000134569	ENST00000378623	D	0.96651	-4.08	5.8	5.8	0.92144	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99727	1.1011	10	0.87932	D	0	.	16.1432	0.81544	0.0:0.0:0.0:1.0	.	389	O75096	LRP4_HUMAN	V	389	ENSP00000367888:D389V	ENSP00000367888:D389V	D	-	2	0	LRP4	46874028	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.490000	0.81461	2.214000	0.71695	0.528000	0.53228	GAT		0.612	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		22	82	0	0	0	0	22	82				
SLCO2B1	11309	broad.mit.edu	37	11	74880401	74880401	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr11:74880401T>G	ENST00000289575.5	+	5	1027	c.632T>G	c.(631-633)aTc>aGc	p.I211S	SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.I95S|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.I189S|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.I67S	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	211					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCCTTTGGCATCTCCTACATC	0.597																																						uc001owb.2		NA																	0				ovary(1)|breast(1)	2						c.(631-633)ATC>AGC		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						95.0	92.0	93.0					11																	74880401		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74880401T>G	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.632T>G	11.37:g.74880401T>G	ENSP00000289575:p.Ile211Ser					SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Missense_Mutation_p.I67S|SLCO2B1_uc010rrs.1_Missense_Mutation_p.I95S|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Missense_Mutation_p.I189S	p.I211S	NM_007256	NP_009187	O94956	SO2B1_HUMAN			5	1019	+			211			Helical; Name=4; (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.632T>G	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415796	0.83449	.	.	ENSG00000137491	ENST00000289575;ENST00000532236;ENST00000525650;ENST00000428359;ENST00000526839	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	4.83	4.83	0.62350	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.69522	0.3120	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.74754	-0.3558	10	0.87932	D	0	.	12.4015	0.55416	0.0:0.0:0.0:1.0	.	67;211	E9PPU8;O94956	.;SO2B1_HUMAN	S	211;95;67;189;87	ENSP00000289575:I211S;ENSP00000434112:I95S;ENSP00000436324:I67S;ENSP00000388912:I189S;ENSP00000434742:I87S	ENSP00000289575:I211S	I	+	2	0	SLCO2B1	74558049	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.327000	0.79147	2.032000	0.59987	0.528000	0.53228	ATC		0.597	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		9	92	0	0	0	0	9	92				
GRIN2B	2904	broad.mit.edu	37	12	13717534	13717534	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:13717534G>A	ENST00000609686.1	-	13	2847	c.2638C>T	c.(2638-2640)Cgc>Tgc	p.R880C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	880					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACAGACTGGCGCTCCTCGATC	0.537																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(2638-2640)CGC>TGC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						109.0	98.0	102.0					12																	13717534		2202	4298	6500	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717534G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2638C>T	12.37:g.13717534G>A	ENSP00000477455:p.Arg880Cys						p.R880C	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	2817	-			880			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2638C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865390	0.51588	.	.	ENSG00000150086	ENST00000279593	T	0.12774	2.65	5.3	5.3	0.74995	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.277359	0.39687	N	0.001290	T	0.24044	0.0582	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	T	0.00822	-1.1552	10	0.87932	D	0	.	13.8688	0.63605	0.0:0.0:0.8473:0.1527	.	880	Q13224	NMDE2_HUMAN	C	880	ENSP00000279593:R880C	ENSP00000279593:R880C	R	-	1	0	GRIN2B	13608801	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	4.852000	0.62904	2.492000	0.84095	0.563000	0.77884	CGC		0.537	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			24	125	0	0	0	0	24	125				
PTPRO	5800	broad.mit.edu	37	12	15722430	15722430	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:15722430G>C	ENST00000281171.4	+	19	3157	c.2827G>C	c.(2827-2829)Gag>Cag	p.E943Q	PTPRO_ENST00000442921.2_Missense_Mutation_p.E132Q|PTPRO_ENST00000544244.1_Missense_Mutation_p.E104Q|PTPRO_ENST00000348962.2_Missense_Mutation_p.E915Q|PTPRO_ENST00000542557.1_Missense_Mutation_p.E104Q|PTPRO_ENST00000445537.2_Missense_Mutation_p.E132Q	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	943	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCTTCAGTTTGAGGTGAGTTG	0.448																																						uc001rcv.1		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(2827-2829)GAG>CAG		receptor-type protein tyrosine phosphatase O							185.0	185.0	185.0					12																	15722430		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15722430G>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2827G>C	12.37:g.15722430G>C	ENSP00000281171:p.Glu943Gln					PTPRO_uc001rcw.1_Missense_Mutation_p.E915Q|PTPRO_uc001rcx.1_Missense_Mutation_p.E132Q|PTPRO_uc001rcy.1_Missense_Mutation_p.E132Q|PTPRO_uc001rcz.1_Missense_Mutation_p.E104Q|PTPRO_uc001rda.1_Missense_Mutation_p.E104Q	p.E943Q	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			19	3001	+		Hepatocellular(102;0.244)	943			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2827G>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207877	0.79240	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	4.75	4.75	0.60458	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.46758	D	0.000268	T	0.29288	0.0729	L	0.37630	1.12	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.915;0.993;0.988	T	0.02202	-1.1196	10	0.59425	D	0.04	.	17.9475	0.89043	0.0:0.0:1.0:0.0	.	104;915;943	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	Q	943;915;132;104;132;104	ENSP00000281171:E943Q;ENSP00000343434:E915Q;ENSP00000404188:E132Q;ENSP00000437571:E104Q;ENSP00000393449:E132Q;ENSP00000439234:E104Q	ENSP00000281171:E943Q	E	+	1	0	PTPRO	15613697	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.613000	0.90913	2.482000	0.83794	0.563000	0.77884	GAG		0.448	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			4	49	0	0	0	0	4	49				
KMT2D	8085	broad.mit.edu	37	12	49420564	49420564	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:49420564C>A	ENST00000301067.7	-	48	15184	c.15185G>T	c.(15184-15186)tGt>tTt	p.C5062F		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5062					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)										CCAAAGGGCACAGTTGAGGTG	0.617																																						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.(15184-15186)TGT>TTT		myeloid/lymphoid or mixed-lineage leukemia 2							58.0	64.0	62.0					12																	49420564		2086	4203	6289	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.chr12:49420564C>A	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.15185G>T	12.37:g.49420564C>A	ENSP00000301067:p.Cys5062Phe	HNSCC(34;0.089)					p.C5062F	NM_003482	NP_003473	O14686	MLL2_HUMAN			48	15185	-			5062					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15185G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985715	0.35036	.	.	ENSG00000167548	ENST00000301067	D	0.85702	-2.02	4.62	4.62	0.57501	.	0.000000	0.41605	D	0.000842	D	0.94857	0.8338	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96571	0.9423	10	0.87932	D	0	.	16.6279	0.84984	0.0:1.0:0.0:0.0	.	5062	O14686	MLL2_HUMAN	F	5062	ENSP00000301067:C5062F	ENSP00000301067:C5062F	C	-	2	0	MLL2	47706831	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.308000	0.77769	0.655000	0.94253	TGT		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			19	91	1	0	2.46e-09	3.07e-09	19	91				
TPH2	121278	broad.mit.edu	37	12	72425343	72425343	+	Silent	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:72425343C>T	ENST00000333850.3	+	11	1482	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	447					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAGTATACTTCAATCCCTACA	0.423																																						uc009zrw.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1339-1341)TTC>TTT		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						112.0	101.0	105.0					12																	72425343		2203	4299	6502	SO:0001819	synonymous_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72425343C>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1341C>T	12.37:g.72425343C>T						TPH2_uc001swy.2_Silent_p.F357F	p.F447F	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			11	1482	+			447					A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	c.1341C>T	CCDS31859.1																																																																																				0.423	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		8	55	0	0	0	0	8	55				
RFX4	5992	broad.mit.edu	37	12	107126831	107126831	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:107126831C>A	ENST00000392842.1	+	15	2015	c.1601C>A	c.(1600-1602)cCt>cAt	p.P534H	RFX4_ENST00000357881.4_Missense_Mutation_p.P543H|RFX4_ENST00000229387.5_Missense_Mutation_p.P440H|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	534					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GTTAGCAATCCTTCCCCTGAG	0.517																																						uc001tlr.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1600-1602)CCT>CAT		regulatory factor X4 isoform c							150.0	139.0	143.0					12																	107126831		2203	4300	6503	SO:0001583	missense	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107126831C>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1601C>A	12.37:g.107126831C>A	ENSP00000376585:p.Pro534His					RFX4_uc001tls.2_Missense_Mutation_p.P543H|RFX4_uc001tlt.2_Missense_Mutation_p.P543H|RFX4_uc001tlv.2_Missense_Mutation_p.P440H	p.P534H	NM_213594	NP_998759	Q33E94	RFX4_HUMAN			15	1667	+			534					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	ENST00000392842.1	37	c.1601C>A	CCDS9106.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107654	0.37242	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000229387	T;T;T	0.64438	-0.1;-0.1;0.9	5.16	5.16	0.70880	.	0.175238	0.49305	D	0.000156	T	0.47414	0.1444	N	0.08118	0	0.30560	N	0.764578	P;B;B;B	0.36909	0.573;0.189;0.343;0.119	B;B;B;B	0.43950	0.437;0.281;0.345;0.044	T	0.52170	-0.8611	10	0.30078	T	0.28	-6.1711	12.2476	0.54578	0.2855:0.7145:0.0:0.0	.	440;543;543;534	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	H	534;543;543;440	ENSP00000376585:P534H;ENSP00000350552:P543H;ENSP00000229387:P440H	ENSP00000229387:P440H	P	+	2	0	RFX4	105650961	1.000000	0.71417	0.981000	0.43875	0.533000	0.34776	4.291000	0.59025	2.581000	0.87130	0.561000	0.74099	CCT		0.517	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		5	188	1	0	0.00116845	0.00131656	5	188				
SSH1	54434	broad.mit.edu	37	12	109201543	109201543	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr12:109201543G>A	ENST00000326495.5	-	8	690	c.597C>T	c.(595-597)ccC>ccT	p.P199P	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000326470.5_Silent_p.P210P|SSH1_ENST00000551165.1_Silent_p.P199P	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	199					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTACACCCCCGGGGAAGTAGT	0.612																																						uc001tnm.2		NA																	0				ovary(4)	4						c.(595-597)CCC>CCT		slingshot 1 isoform 1							51.0	53.0	53.0					12																	109201543		2203	4300	6503	SO:0001819	synonymous_variant	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109201543G>A	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.597C>T	12.37:g.109201543G>A						SSH1_uc001tnl.2_5'Flank|SSH1_uc010sxg.1_Silent_p.P210P|SSH1_uc001tnn.3_Silent_p.P199P|SSH1_uc001tno.1_Silent_p.P103P	p.P199P	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			8	684	-			199					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	ENST00000326495.5	37	c.597C>T	CCDS9121.1																																																																																				0.612	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		25	68	0	0	0	0	25	68				
TPTE2	93492	broad.mit.edu	37	13	20041462	20041462	+	Silent	SNP	A	A	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr13:20041462A>G	ENST00000400230.2	-	7	459	c.415T>C	c.(415-417)Tta>Cta	p.L139L	TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Silent_p.L139L|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	139					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATGTTAAATAAGTCAGAAAAA	0.303																																						uc001umd.2		NA																	0					0						c.(415-417)TTA>CTA		TPTE and PTEN homologous inositol lipid							24.0	28.0	26.0					13																	20041462		2193	4278	6471	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20041462A>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.415T>C	13.37:g.20041462A>G						TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Intron|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	p.L139L	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	8	626	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	139					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.415T>C	CCDS45014.1																																																																																				0.303	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		8	28	0	0	0	0	8	28				
DZIP1	22873	broad.mit.edu	37	13	96237020	96237020	+	Missense_Mutation	SNP	C	C	T	rs147653120		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr13:96237020C>T	ENST00000376829.2	-	22	3345	c.2494G>A	c.(2494-2496)Gca>Aca	p.A832T	DZIP1_ENST00000361156.3_Missense_Mutation_p.A813T|DZIP1_ENST00000361396.2_Missense_Mutation_p.A813T|DZIP1_ENST00000347108.3_Missense_Mutation_p.A832T	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	832					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GGATTAAATGCGCCCCAGGCA	0.408																																						uc001vmk.2		NA																	0				ovary(2)	2						c.(2494-2496)GCA>ACA		DAZ interacting protein 1 isoform 2		C	THR/ALA,THR/ALA	0,4406		0,0,2203	114.0	119.0	118.0		2437,2494	0.2	0.1	13	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DZIP1	NM_014934.3,NM_198968.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	813/849,832/868	96237020	1,13005	2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96237020C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2494G>A	13.37:g.96237020C>T	ENSP00000366025:p.Ala832Thr					DZIP1_uc001vmi.2_Missense_Mutation_p.A80T|DZIP1_uc001vmj.2_Missense_Mutation_p.A308T|DZIP1_uc001vml.2_Missense_Mutation_p.A813T|DZIP1_uc001vmm.2_5'Flank	p.A832T	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		22	3346	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		832					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.2494G>A	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337729	0.24253	0.0	1.16E-4	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.07327	3.21;3.2;3.2;3.21	5.38	0.163	0.14986	.	0.625397	0.16537	N	0.210109	T	0.07458	0.0188	L	0.57536	1.79	0.09310	N	1	B;B	0.21688	0.055;0.059	B;B	0.12837	0.008;0.003	T	0.32981	-0.9886	10	0.28530	T	0.3	-1.7599	4.7118	0.12875	0.2229:0.3259:0.3776:0.0737	.	813;832	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	T	832;813;813;832	ENSP00000257312:A832T;ENSP00000355018:A813T;ENSP00000355175:A813T;ENSP00000366025:A832T	ENSP00000257312:A832T	A	-	1	0	DZIP1	95035021	0.004000	0.15560	0.055000	0.19348	0.699000	0.40488	0.342000	0.19926	-0.017000	0.14103	-0.537000	0.04273	GCA		0.408	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934		38	90	0	0	0	0	38	90				
TMTC4	84899	broad.mit.edu	37	13	101289875	101289875	+	Missense_Mutation	SNP	G	G	A	rs141063052		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr13:101289875G>A	ENST00000376234.3	-	8	1048	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	TMTC4_ENST00000328767.5_Missense_Mutation_p.R176C|TMTC4_ENST00000342624.5_Missense_Mutation_p.R306C|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	287						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATCCTCCAGCGCACGTAGAGC	0.627																																						uc001vou.2		NA																	0				ovary(2)|breast(1)	3						c.(859-861)CGC>TGC		transmembrane and tetratricopeptide repeat		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	72.0	72.0		859,916	5.6	1.0	13	dbSNP_134	72	0,8600		0,0,4300	no	missense,missense	TMTC4	NM_001079669.1,NM_032813.2	180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	287/742,306/761	101289875	1,13005	2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101289875G>A		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.859C>T	13.37:g.101289875G>A	ENSP00000365408:p.Arg287Cys					TMTC4_uc001vot.2_Missense_Mutation_p.R306C|TMTC4_uc010tja.1_Missense_Mutation_p.R176C|TMTC4_uc001vov.1_Missense_Mutation_p.R32C|TMTC4_uc001vow.1_Missense_Mutation_p.R70C	p.R287C	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN			8	1019	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		287			Helical; (Potential).		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.859C>T	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408496	0.83340	2.27E-4	0.0	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.67865	-0.25;-0.29;0.47	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84656	0.5520	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	D	0.86535	0.1824	10	0.87932	D	0	.	19.6165	0.95636	0.0:0.0:1.0:0.0	.	176;287;287;306	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	C	287;306;176	ENSP00000365408:R287C;ENSP00000343871:R306C;ENSP00000365409:R176C	ENSP00000365409:R176C	R	-	1	0	TMTC4	100087876	1.000000	0.71417	0.982000	0.44146	0.725000	0.41563	7.304000	0.78882	2.638000	0.89438	0.655000	0.94253	CGC		0.627	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		10	126	0	0	0	0	10	126				
CCNB1IP1	57820	broad.mit.edu	37	14	20781879	20781879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:20781879G>A	ENST00000398169.3	-	6	995	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	CCNB1IP1_ENST00000353689.4_Nonsense_Mutation_p.Q127*|CCNB1IP1_ENST00000437553.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_ENST00000398163.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_ENST00000398160.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_ENST00000358932.4_Nonsense_Mutation_p.Q127*			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	127					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TGTATTTGCTGAGTATATATC	0.383			T	HMGA2	leiomyoma																																	uc001vwv.2		NA		Dom	yes		14	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	0				soft_tissue(2)|ovary(1)	3						c.(379-381)CAG>TAG		cyclin B1 interacting protein 1 isoform 3							72.0	63.0	66.0					14																	20781879		2203	4300	6503	SO:0001587	stop_gained	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20781879G>A	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.379C>T	14.37:g.20781879G>A	ENSP00000381235:p.Gln127*					CCNB1IP1_uc001vww.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_uc001vwx.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_uc001vwy.2_Nonsense_Mutation_p.Q127*|CCNB1IP1_uc001vwz.2_Nonsense_Mutation_p.Q127*	p.Q127*	NM_182851	NP_878271	Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	6	1028	-	all_cancers(95;0.00092)	all_lung(585;0.235)	127			Potential.			Nonsense_Mutation	SNP	ENST00000398169.3	37	c.379C>T	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	G	39	7.750672	0.98468	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163;ENST00000557665	.	.	.	5.23	5.23	0.72850	.	0.060632	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5724	17.5687	0.87928	0.0:0.0:1.0:0.0	.	.	.	.	X	127	.	ENSP00000337396:Q127X	Q	-	1	0	CCNB1IP1	19851719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.694000	0.91293	2.442000	0.82660	0.561000	0.74099	CAG		0.383	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		6	46	0	0	0	0	6	46				
OR6S1	341799	broad.mit.edu	37	14	21109439	21109439	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:21109439T>C	ENST00000320704.3	-	1	411	c.412A>G	c.(412-414)Atg>Gtg	p.M138V		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GCCCCACTCATGAGCAAGGGG	0.587																																						uc001vxv.1		NA																	0				ovary(1)|skin(1)	2						c.(412-414)ATG>GTG		olfactory receptor, family 6, subfamily S,							95.0	73.0	81.0					14																	21109439		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109439T>C	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.412A>G	14.37:g.21109439T>C	ENSP00000313110:p.Met138Val						p.M138V	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	412	-	all_cancers(95;0.00304)		138			Cytoplasmic (Potential).		Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.412A>G	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.205405	0.58234	.	.	ENSG00000181803	ENST00000320704	T	0.01745	4.66	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	T	0.04634	0.0126	M	0.66560	2.04	0.30504	N	0.770072	P	0.38922	0.651	B	0.43018	0.405	T	0.01635	-1.1307	10	0.51188	T	0.08	-31.9422	14.0276	0.64594	0.0:0.0:0.0:1.0	.	138	Q8NH40	OR6S1_HUMAN	V	138	ENSP00000313110:M138V	ENSP00000313110:M138V	M	-	1	0	OR6S1	20179279	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.093000	0.50217	2.193000	0.70182	0.533000	0.62120	ATG		0.587	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			14	54	0	0	0	0	14	54				
ZFP36L1	677	broad.mit.edu	37	14	69257036	69257036	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:69257036G>A	ENST00000439696.2	-	2	532	c.231C>T	c.(229-231)ccC>ccT	p.P77P	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.P77P	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	77					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)	p.P77fs*67(1)		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)		AGCTCAGAGCGGGGGCTGGCT	0.692											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1		NA																	1	Deletion - Frameshift(1)		breast(1)	ovary(1)	1						c.(229-231)CCC>CCT		butyrate response factor 1							17.0	20.0	19.0					14																	69257036		2203	4297	6500	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.chr14:69257036G>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.231C>T	14.37:g.69257036G>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.P77P	p.P77P	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	361	-			77					Q13851	Silent	SNP	ENST00000439696.2	37	c.231C>T	CCDS9791.1																																																																																				0.692	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			11	47	0	0	0	0	11	47				
EXD2	55218	broad.mit.edu	37	14	69701563	69701563	+	Silent	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:69701563C>T	ENST00000409018.3	+	5	992	c.864C>T	c.(862-864)gtC>gtT	p.V288V	EXD2_ENST00000409014.1_Silent_p.V163V|EXD2_ENST00000449989.1_Silent_p.V163V|EXD2_ENST00000409242.1_Silent_p.V163V|EXD2_ENST00000409675.1_Silent_p.V163V|EXD2_ENST00000409949.1_Silent_p.V163V|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000312994.5_Silent_p.V288V	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	288							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						AGGGTGTGGTCGACATCCCAT	0.433																																						uc001xkt.2		NA																	0					0						c.(487-489)GTC>GTT		exonuclease 3'-5' domain containing 2							72.0	72.0	72.0					14																	69701563		2203	4300	6503	SO:0001819	synonymous_variant	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69701563C>T	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.864C>T	14.37:g.69701563C>T						EXD2_uc001xku.2_Silent_p.V33V|EXD2_uc001xkv.2_Silent_p.V288V|EXD2_uc001xkw.2_Silent_p.V163V|EXD2_uc010aqt.2_Silent_p.V288V|EXD2_uc010tte.1_Silent_p.V288V|EXD2_uc001xky.2_Silent_p.V163V	p.V163V	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN			7	1148	+			163					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Silent	SNP	ENST00000409018.3	37	c.489C>T	CCDS53902.1																																																																																				0.433	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			13	55	0	0	0	0	13	55				
DYNC1H1	1778	broad.mit.edu	37	14	102516786	102516786	+	Silent	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr14:102516786C>G	ENST00000360184.4	+	78	13991	c.13827C>G	c.(13825-13827)gtC>gtG	p.V4609V	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4609					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCTTACCTGTCTACCTGAACT	0.542																																						uc001yks.2		NA																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(13825-13827)GTC>GTG		cytoplasmic dynein 1 heavy chain 1							177.0	182.0	181.0					14																	102516786		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102516786C>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13827C>G	14.37:g.102516786C>G							p.V4609V	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			78	13991	+			4609					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.13827C>G	CCDS9966.1																																																																																				0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		34	266	0	0	0	0	34	266				
TRPM1	4308	broad.mit.edu	37	15	31294456	31294456	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:31294456T>C	ENST00000256552.6	-	28	4594	c.4447A>G	c.(4447-4449)Atc>Gtc	p.I1483V	TRPM1_ENST00000542188.1_Missense_Mutation_p.I1500V|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.I1461V	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGGTCCGTGATTGAACTGTAC	0.468																																						uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(4381-4383)ATC>GTC		transient receptor potential cation channel,							190.0	170.0	176.0					15																	31294456		1951	4154	6105	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294456T>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4447A>G	15.37:g.31294456T>C	ENSP00000256552:p.Ile1483Val					TRPM1_uc010azy.2_Missense_Mutation_p.I1368V|TRPM1_uc001zfl.2_RNA	p.I1461V	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4509	-		all_lung(180;1.92e-11)	1461			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.4381A>G	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	9.188	1.025368	0.19512	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.51574	0.72;0.7;0.72	4.92	-2.11	0.07187	.	0.979541	0.08356	N	0.958421	T	0.33089	0.0851	N	0.20986	0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.30765	-0.9967	10	0.59425	D	0.04	-1.4089	10.5825	0.45263	0.0:0.2871:0.0:0.7129	.	1455;1461	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	V	1461;1500;1483;1461	ENSP00000380897:I1461V;ENSP00000437849:I1500V;ENSP00000256552:I1483V	ENSP00000256552:I1483V	I	-	1	0	TRPM1	29081748	0.000000	0.05858	0.000000	0.03702	0.666000	0.39218	-0.725000	0.04942	-0.680000	0.05211	-0.274000	0.10170	ATC		0.468	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		35	120	0	0	0	0	35	120				
ATP8B4	79895	broad.mit.edu	37	15	50212513	50212513	+	Missense_Mutation	SNP	G	G	A	rs200106056		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:50212513G>A	ENST00000284509.6	-	18	1994	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	ATP8B4_ENST00000559829.1_Missense_Mutation_p.A618V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	618						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A618V(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGCAGCATTCGCATCTTCAAG	0.448																																						uc001zxu.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(1852-1854)GCG>GTG		ATPase class I type 8B member 4							165.0	151.0	156.0					15																	50212513		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50212513G>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1853C>T	15.37:g.50212513G>A	ENSP00000284509:p.Ala618Val					ATP8B4_uc010ber.2_Missense_Mutation_p.A491V|ATP8B4_uc010ufd.1_Missense_Mutation_p.A428V|ATP8B4_uc010ufe.1_RNA	p.A618V	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	18	1995	-		all_lung(180;0.00183)	618			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1853C>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945262	0.73672	.	.	ENSG00000104043	ENST00000284509	T	0.67698	-0.28	5.64	5.64	0.86602	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.057062	0.64402	D	0.000002	D	0.82852	0.5127	M	0.91717	3.235	0.46954	D	0.99926	D	0.54047	0.964	P	0.55391	0.775	D	0.86556	0.1838	10	0.72032	D	0.01	.	17.1963	0.86893	0.0:0.0:1.0:0.0	.	618	Q8TF62	AT8B4_HUMAN	V	618	ENSP00000284509:A618V	ENSP00000284509:A618V	A	-	2	0	ATP8B4	47999805	1.000000	0.71417	0.979000	0.43373	0.956000	0.61745	7.193000	0.77780	2.664000	0.90586	0.561000	0.74099	GCG		0.448	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		9	84	0	0	0	0	9	84				
UACA	55075	broad.mit.edu	37	15	70960742	70960742	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:70960742T>C	ENST00000322954.6	-	16	2466	c.2281A>G	c.(2281-2283)Att>Gtt	p.I761V	UACA_ENST00000539319.1_Missense_Mutation_p.I652V|UACA_ENST00000379983.2_Missense_Mutation_p.I748V|UACA_ENST00000560441.1_Missense_Mutation_p.I746V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	761					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGATCATCAATAATTGCATCA	0.303																																						uc002asr.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2281-2283)ATT>GTT		uveal autoantigen with coiled-coil domains and							66.0	65.0	65.0					15																	70960742		2197	4296	6493	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960742T>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2281A>G	15.37:g.70960742T>C	ENSP00000314556:p.Ile761Val					UACA_uc010uke.1_Missense_Mutation_p.I652V|UACA_uc002asq.2_Missense_Mutation_p.I748V|UACA_uc010bin.1_Missense_Mutation_p.I736V	p.I761V	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			16	2385	-			761			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2281A>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.148403	0.00029	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.28454	1.61;1.62;2.11	5.72	-1.11	0.09840	.	0.580127	0.16539	N	0.210037	T	0.08358	0.0208	N	0.02674	-0.535	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.10450	0.004;0.002;0.002;0.005	T	0.37753	-0.9692	10	0.02654	T	1	-4.7234	6.4493	0.21894	0.0:0.4236:0.1259:0.4505	.	652;761;761;748	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	761;748;652	ENSP00000314556:I761V;ENSP00000369319:I748V;ENSP00000438667:I652V	ENSP00000314556:I761V	I	-	1	0	UACA	68747796	0.003000	0.15002	0.000000	0.03702	0.015000	0.08874	0.012000	0.13287	-0.005000	0.14395	-0.488000	0.04728	ATT		0.303	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			11	37	0	0	0	0	11	37				
TMEM202	338949	broad.mit.edu	37	15	72698993	72698993	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:72698993C>T	ENST00000341689.3	+	3	442	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F	TMEM202_ENST00000567679.1_Silent_p.Y44Y	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	130						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTTTACCATACTTACTGGCCT	0.478																																						uc002auq.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(388-390)CTT>TTT		transmembrane protein 202							173.0	154.0	161.0					15																	72698993		2199	4297	6496	SO:0001583	missense	338949					integral to membrane		g.chr15:72698993C>T		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.388C>T	15.37:g.72698993C>T	ENSP00000340212:p.Leu130Phe					TMEM202_uc002aur.2_RNA	p.L130F	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN			3	388	+			130			Helical; (Potential).			Missense_Mutation	SNP	ENST00000341689.3	37	c.388C>T	CCDS32287.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462084	0.43736	.	.	ENSG00000187806	ENST00000341689	T	0.64991	-0.13	5.42	1.24	0.21308	.	0.277556	0.26122	N	0.026212	T	0.54062	0.1835	L	0.49350	1.555	0.20489	N	0.999898	P	0.50943	0.94	P	0.49421	0.61	T	0.40664	-0.9551	10	0.23302	T	0.38	-19.0206	3.9015	0.09164	0.3351:0.4882:0.0:0.1766	.	130	A6NGA9	TM202_HUMAN	F	130	ENSP00000340212:L130F	ENSP00000340212:L130F	L	+	1	0	TMEM202	70486047	0.001000	0.12720	0.009000	0.14445	0.104000	0.19210	0.014000	0.13333	0.823000	0.34589	0.655000	0.94253	CTT		0.478	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		20	122	0	0	0	0	20	122				
CEMIP	57214	broad.mit.edu	37	15	81173350	81173350	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:81173350C>A	ENST00000394685.3	+	6	909	c.490C>A	c.(490-492)Ctg>Atg	p.L164M	KIAA1199_ENST00000220244.3_Missense_Mutation_p.L164M|KIAA1199_ENST00000356249.5_Missense_Mutation_p.L164M			Q8WUJ3	CEMIP_HUMAN		164	G8. {ECO:0000255|PROSITE- ProRule:PRU00817}.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGACATTTCTGAACAAGAC	0.493																																						uc002bfw.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(490-492)CTG>ATG		KIAA1199 precursor							131.0	126.0	128.0					15																	81173350		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81173350C>A																												ENST00000394685.3:c.490C>A	15.37:g.81173350C>A	ENSP00000378177:p.Leu164Met					KIAA1199_uc010unn.1_Missense_Mutation_p.L164M	p.L164M	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			5	750	+			164			G8.		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.490C>A	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.288586	0.59976	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	D;D;D	0.97529	-4.42;-4.42;-4.42	5.95	5.02	0.67125	G8 domain (2);	0.000000	0.64402	D	0.000011	D	0.98457	0.9486	M	0.88640	2.97	0.46298	D	0.998978	D	0.89917	1.0	D	0.97110	1.0	D	0.98532	1.0628	10	0.72032	D	0.01	-22.1949	12.8901	0.58066	0.0:0.8724:0.0:0.1276	.	164	Q8WUJ3	K1199_HUMAN	M	164	ENSP00000220244:L164M;ENSP00000378177:L164M;ENSP00000348583:L164M	ENSP00000220244:L164M	L	+	1	2	KIAA1199	78960405	0.996000	0.38824	0.783000	0.31826	0.563000	0.35712	0.488000	0.22371	2.811000	0.96726	0.655000	0.94253	CTG		0.493	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			24	129	1	0	7.34e-06	8.89e-06	24	129				
CHSY1	22856	broad.mit.edu	37	15	101775715	101775715	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr15:101775715G>C	ENST00000254190.3	-	2	863	c.388C>G	c.(388-390)Cca>Gca	p.P130A		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	130					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTGGAATTGGTACAGATGTG	0.458																																						uc002bwt.1		NA																	0					0						c.(388-390)CCA>GCA		chondroitin sulfate synthase 1							93.0	95.0	94.0					15																	101775715		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101775715G>C	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.388C>G	15.37:g.101775715G>C	ENSP00000254190:p.Pro130Ala						p.P130A	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	871	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		130			Lumenal (Potential).		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.388C>G	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576751	0.45902	.	.	ENSG00000131873	ENST00000254190	T	0.38887	1.11	5.21	4.29	0.51040	.	0.073163	0.53938	D	0.000043	T	0.36580	0.0972	M	0.68317	2.08	0.58432	D	0.999997	P	0.38863	0.65	B	0.34590	0.186	T	0.24404	-1.0161	10	0.07644	T	0.81	-21.8248	13.7711	0.63026	0.0735:0.0:0.9264:0.0	.	130	Q86X52	CHSS1_HUMAN	A	130	ENSP00000254190:P130A	ENSP00000254190:P130A	P	-	1	0	CHSY1	99593238	1.000000	0.71417	0.039000	0.18376	0.588000	0.36517	7.893000	0.87330	1.206000	0.43276	0.655000	0.94253	CCA		0.458	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		25	102	0	0	0	0	25	102				
ADCY9	115	broad.mit.edu	37	16	4164292	4164292	+	Silent	SNP	A	A	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:4164292A>G	ENST00000294016.3	-	2	1690	c.1152T>C	c.(1150-1152)ccT>ccC	p.P384P		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	384					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCATCTTAAAAGGGCGGAAGG	0.488																																						uc002cvx.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1150-1152)CCT>CCC		adenylate cyclase 9							117.0	113.0	115.0					16																	4164292		2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164292A>G	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1152T>C	16.37:g.4164292A>G							p.P384P	NM_001116	NP_001107	O60503	ADCY9_HUMAN			2	1691	-			384			Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.1152T>C	CCDS32382.1																																																																																				0.488	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			3	133	0	0	0	0	3	133				
ADCY9	115	broad.mit.edu	37	16	4164320	4164320	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:4164320A>T	ENST00000294016.3	-	2	1662	c.1124T>A	c.(1123-1125)aTc>aAc	p.I375N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	375					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGCTTTTTGGATGGAAGACTT	0.463																																						uc002cvx.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1123-1125)ATC>AAC		adenylate cyclase 9							142.0	136.0	138.0					16																	4164320		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164320A>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1124T>A	16.37:g.4164320A>T	ENSP00000294016:p.Ile375Asn						p.I375N	NM_001116	NP_001107	O60503	ADCY9_HUMAN			2	1663	-			375			Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1124T>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	A	18.00	3.525972	0.64860	.	.	ENSG00000162104	ENST00000294016	D	0.84800	-1.9	5.48	5.48	0.80851	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	L	0.51422	1.61	0.58432	D	0.999996	D	0.69078	0.997	P	0.60682	0.878	D	0.88284	0.2938	10	0.41790	T	0.15	.	15.5928	0.76550	1.0:0.0:0.0:0.0	.	375	O60503	ADCY9_HUMAN	N	375	ENSP00000294016:I375N	ENSP00000294016:I375N	I	-	2	0	ADCY9	4104321	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	7.520000	0.81821	2.099000	0.63709	0.454000	0.30748	ATC		0.463	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			33	111	0	0	0	0	33	111				
ABCC12	94160	broad.mit.edu	37	16	48173139	48173139	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:48173139A>G	ENST00000311303.3	-	5	1111	c.766T>C	c.(766-768)Ttt>Ctt	p.F256L	ABCC12_ENST00000416054.1_Missense_Mutation_p.F256L|ABCC12_ENST00000448542.1_Missense_Mutation_p.F256L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	256	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGAATGAAAAAGGCGTACGCC	0.473																																						uc002efc.1		NA																	0				ovary(2)|skin(1)	3						c.(766-768)TTT>CTT		ATP-binding cassette protein C12							126.0	115.0	118.0					16																	48173139		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48173139A>G	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.766T>C	16.37:g.48173139A>G	ENSP00000311030:p.Phe256Leu					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.F256L|ABCC12_uc010vgj.1_RNA	p.F256L	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			5	1112	-		all_cancers(37;0.0474)|all_lung(18;0.047)	256			ABC transmembrane type-1 1.|Helical; (Potential).		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.766T>C	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082112	0.36758	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000416054	D;D;D	0.88664	-2.41;-2.41;-2.41	5.88	4.79	0.61399	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.165896	0.53938	N	0.000045	T	0.76637	0.4015	N	0.11201	0.11	0.37424	D	0.913761	B;B	0.21821	0.061;0.001	B;B	0.28385	0.089;0.004	T	0.69269	-0.5189	10	0.21014	T	0.42	.	7.0398	0.25013	0.775:0.1489:0.0761:0.0	.	256;256	Q96J65-2;Q96J65	.;MRP9_HUMAN	L	256	ENSP00000311030:F256L;ENSP00000401855:F256L;ENSP00000413046:F256L	ENSP00000311030:F256L	F	-	1	0	ABCC12	46730640	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	4.193000	0.58385	1.040000	0.40099	0.533000	0.62120	TTT		0.473	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		3	114	0	0	0	0	3	114				
NFATC3	4775	broad.mit.edu	37	16	68156924	68156924	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:68156924C>G	ENST00000346183.3	+	2	1162	c.1138C>G	c.(1138-1140)Cag>Gag	p.Q380E	NFATC3_ENST00000329524.4_Missense_Mutation_p.Q380E|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000349223.5_Missense_Mutation_p.Q380E|NFATC3_ENST00000575270.1_Missense_Mutation_p.Q380E|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	380					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CCTTGGATCTCAGTATCCTTT	0.453																																						uc002evo.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(1138-1140)CAG>GAG		nuclear factor of activated T-cells,							111.0	116.0	115.0					16																	68156924		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68156924C>G	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1138C>G	16.37:g.68156924C>G	ENSP00000300659:p.Gln380Glu					NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.Q380E|NFATC3_uc002evm.1_Missense_Mutation_p.Q380E|NFATC3_uc002evn.1_Missense_Mutation_p.Q380E|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	p.Q380E	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	1348	+		Ovarian(137;0.0563)	380					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.1138C>G	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051113	0.36181	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.07908	3.15;3.15;3.15	5.52	5.52	0.82312	.	0.070231	0.64402	D	0.000015	T	0.13329	0.0323	L	0.58101	1.795	0.49798	D	0.999822	B;B;B;B	0.26902	0.104;0.163;0.104;0.104	B;B;B;B	0.29440	0.069;0.102;0.069;0.069	T	0.07290	-1.0780	9	.	.	.	-6.0946	19.8024	0.96513	0.0:1.0:0.0:0.0	.	380;380;380;380	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	E	380	ENSP00000264008:Q380E;ENSP00000300659:Q380E;ENSP00000331324:Q380E	.	Q	+	1	0	NFATC3	66714425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.317000	0.65822	2.752000	0.94435	0.655000	0.94253	CAG		0.453	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		20	115	0	0	0	0	20	115				
CA5A	763	broad.mit.edu	37	16	87960541	87960541	+	Silent	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr16:87960541G>C	ENST00000309893.2	-	2	218	c.153C>G	c.(151-153)ctC>ctG	p.L51L	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	51					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	GGACCGTCCAGAGTGGGTGCA	0.632																																						uc002fkn.1		NA																	0					0						c.(151-153)CTC>CTG		carbonic anhydrase VA, mitochondrial precursor							18.0	18.0	18.0					16																	87960541		2194	4299	6493	SO:0001819	synonymous_variant	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87960541G>C	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.153C>G	16.37:g.87960541G>C							p.L51L	NM_001739	NP_001730	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	2	209	-			51					B2RPF2	Silent	SNP	ENST00000309893.2	37	c.153C>G	CCDS10965.1																																																																																				0.632	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		2	7	0	0	0	0	2	7				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	58	0	0	0	0	24	58				
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGGGAGTACTGTAGGAAGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(31)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.e5-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							42.0	42.0	42.0					17																	7578555		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578555C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1G>A	17.37:g.7578555C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	p.Y126_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	570	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.376_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	10	22	0	0	0	0	10	22				
DNAH9	1770	broad.mit.edu	37	17	11556233	11556233	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:11556233C>G	ENST00000262442.4	+	14	2577	c.2509C>G	c.(2509-2511)Ctt>Gtt	p.L837V	DNAH9_ENST00000454412.2_Missense_Mutation_p.L837V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	837	Stem. {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)		GGAATCCCTTCTTTCTCTGGA	0.388																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(2509-2511)CTT>GTT		dynein, axonemal, heavy chain 9 isoform 2							124.0	120.0	121.0					17																	11556233		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.chr17:11556233C>G	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.2509C>G	17.37:g.11556233C>G	ENSP00000262442:p.Leu837Val					DNAH9_uc010coo.2_Missense_Mutation_p.L131V	p.L837V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	14	2577	+		Breast(5;0.0122)|all_epithelial(5;0.131)	837			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2509C>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950375	0.34377	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.27402	1.72;1.67	5.27	4.3	0.51218	.	0.226102	0.36591	N	0.002510	T	0.52338	0.1728	M	0.88241	2.94	0.80722	D	1	D	0.56968	0.978	P	0.52672	0.706	T	0.61436	-0.7063	10	0.34782	T	0.22	.	15.6884	0.77430	0.1381:0.8619:0.0:0.0	.	837	Q9NYC9	DYH9_HUMAN	V	837	ENSP00000262442:L837V;ENSP00000414874:L837V	ENSP00000262442:L837V	L	+	1	0	DNAH9	11496958	1.000000	0.71417	0.342000	0.25602	0.041000	0.13682	3.547000	0.53663	1.360000	0.45960	-0.158000	0.13435	CTT		0.388	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		18	53	0	0	0	0	18	53				
NEK8	284086	broad.mit.edu	37	17	27068133	27068133	+	Silent	SNP	C	C	T	rs183536507	byFrequency	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:27068133C>T	ENST00000268766.6	+	13	1804	c.1770C>T	c.(1768-1770)caC>caT	p.H590H	TRAF4_ENST00000262395.5_5'Flank|AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000262396.6_5'Flank|TRAF4_ENST00000444415.3_5'Flank|AC010761.6_ENST00000582536.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	590					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GCAATCAGCACGGACAGTTGG	0.582													C|||	9	0.00179712	0.0	0.0	5008	,	,		20466	0.0089		0.0	False		,,,				2504	0.0				NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2		NA																	0				stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(1768-1770)CAC>CAT		NIMA-related kinase 8							94.0	86.0	88.0					17																	27068133		2203	4300	6503	SO:0001819	synonymous_variant	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27068133C>T	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1770C>T	17.37:g.27068133C>T						TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.2_5'Flank	p.H590H	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			13	1770	+	Lung NSC(42;0.0158)		590			RCC1 4.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	c.1770C>T	CCDS32597.1																																																																																				0.582	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			28	118	0	0	0	0	28	118				
SEZ6	124925	broad.mit.edu	37	17	27286791	27286791	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:27286791C>G	ENST00000317338.12	-	8	2124	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.E566Q|SEZ6_ENST00000360295.9_Missense_Mutation_p.E566Q			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	566	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GAGCCCTGCTCCAGGGTGTAG	0.587																																						uc002hdp.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1696-1698)GAG>CAG		seizure related 6 homolog isoform 1							61.0	66.0	65.0					17																	27286791		2084	4243	6327	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27286791C>G	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1696G>C	17.37:g.27286791C>G	ENSP00000312942:p.Glu566Gln					SEZ6_uc010crx.1_5'Flank|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.E566Q|SEZ6_uc002hdq.1_Missense_Mutation_p.E441Q	p.E566Q	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		8	1890	-	Lung NSC(42;0.0137)		566			Extracellular (Potential).|Sushi 2.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.1696G>C	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439231	0.83885	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000541381	T;T	0.23950	1.88;1.88	5.25	4.26	0.50523	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.994;1.0	T	0.46978	-0.9152	10	0.87932	D	0	.	13.176	0.59626	0.1609:0.8391:0.0:0.0	.	566;566	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	Q	566;566;441;566	ENSP00000403784:E566Q;ENSP00000353440:E566Q	ENSP00000312942:E441Q	E	-	1	0	SEZ6	24310917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.479000	0.81095	1.306000	0.44926	0.561000	0.74099	GAG		0.587	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			5	49	0	0	0	0	5	49				
SGCA	6442	broad.mit.edu	37	17	48243421	48243421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:48243421G>A	ENST00000262018.3	+	1	56	c.20G>A	c.(19-21)tGg>tAg	p.W7*	SGCA_ENST00000543315.1_Nonsense_Mutation_p.W7*|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000451235.2_5'UTR|RP11-893F2.14_ENST00000572855.1_RNA|SGCA_ENST00000344627.6_Nonsense_Mutation_p.W7*	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	7					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						ACACTCTTCTGGACTCCTCTC	0.672																																						uc002iqi.2		NA																	0				ovary(2)	2						c.(19-21)TGG>TAG		sarcoglycan, alpha isoform 1 precursor							103.0	115.0	111.0					17																	48243421		2203	4300	6503	SO:0001587	stop_gained	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48243421G>A	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.20G>A	17.37:g.48243421G>A	ENSP00000262018:p.Trp7*					SGCA_uc010wmh.1_5'UTR|SGCA_uc002iqj.2_Nonsense_Mutation_p.W7*|SGCA_uc010wmi.1_RNA	p.W7*	NM_000023	NP_000014	Q16586	SGCA_HUMAN			1	56	+			7					A6NEB8|A8K3K7|Q13710|Q13712	Nonsense_Mutation	SNP	ENST00000262018.3	37	c.20G>A	CCDS32679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.49|16.49	3.138813|3.138813	0.56936|0.56936	.|.	.|.	ENSG00000108823|ENSG00000108823	ENST00000511303|ENST00000344627;ENST00000262018;ENST00000543315	D|.	0.98178|.	-4.77|.	3.78|3.78	3.78|3.78	0.43462|0.43462	.|.	.|0.615359	.|0.15398	.|U	.|0.264443	T|.	0.32852|.	0.0843|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.10200|.	-1.0640|.	6|.	0.66056|0.02654	D|T	0.02|1	-1.7469|-1.7469	11.4643|11.4643	0.50230|0.50230	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	6|7	ENSP00000426104:G6R|.	ENSP00000426104:G6R|ENSP00000262018:W7X	G|W	+|+	1|2	0|0	SGCA|SGCA	45598420|45598420	1.000000|1.000000	0.71417|0.71417	0.445000|0.445000	0.26908|0.26908	0.024000|0.024000	0.10985|0.10985	4.568000|4.568000	0.60857|0.60857	1.803000|1.803000	0.52742|0.52742	0.450000|0.450000	0.29827|0.29827	GGA|TGG		0.672	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023		13	233	0	0	0	0	13	233				
CACNA1G	8913	broad.mit.edu	37	17	48695588	48695588	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:48695588G>A	ENST00000359106.5	+	32	5311	c.5311G>A	c.(5311-5313)Gac>Aac	p.D1771N	CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1726N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1748N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1760N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1753N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1746N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1764N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1726N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1760N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1771N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.D1737N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1719N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1771N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1778N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1737N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1771N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1714N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1760N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1730N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1748N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1737N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1760N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1737N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1753N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1737N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1771					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCAGAGTGTGACGAGACACA	0.622																																						uc002irk.1		NA																	0				breast(1)	1						c.(5311-5313)GAC>AAC		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						61.0	63.0	62.0					17																	48695588		1927	4140	6067	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48695588G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5311G>A	17.37:g.48695588G>A	ENSP00000352011:p.Asp1771Asn					CACNA1G_uc002irj.1_Missense_Mutation_p.D1737N|CACNA1G_uc002irl.1_Missense_Mutation_p.D1748N|CACNA1G_uc002irm.1_Missense_Mutation_p.D1737N|CACNA1G_uc002irn.1_Missense_Mutation_p.D1730N|CACNA1G_uc002iro.1_Missense_Mutation_p.D1737N|CACNA1G_uc002irp.1_Missense_Mutation_p.D1771N|CACNA1G_uc002irq.1_Missense_Mutation_p.D1748N|CACNA1G_uc002irr.1_Missense_Mutation_p.D1771N|CACNA1G_uc002irs.1_Missense_Mutation_p.D1760N|CACNA1G_uc002irt.1_Missense_Mutation_p.D1753N|CACNA1G_uc002irv.1_Missense_Mutation_p.D1760N|CACNA1G_uc002irw.1_Missense_Mutation_p.D1748N|CACNA1G_uc002iru.1_Missense_Mutation_p.D1737N|CACNA1G_uc002irx.1_Missense_Mutation_p.D1684N|CACNA1G_uc002iry.1_Missense_Mutation_p.D1673N|CACNA1G_uc002irz.1_Missense_Mutation_p.D1677N|CACNA1G_uc002isa.1_Missense_Mutation_p.D1650N|CACNA1G_uc002isb.1_Missense_Mutation_p.D1691N|CACNA1G_uc002isc.1_Missense_Mutation_p.D1673N|CACNA1G_uc002isd.1_Missense_Mutation_p.D1659N|CACNA1G_uc002ise.1_Missense_Mutation_p.D1639N|CACNA1G_uc002isf.1_Missense_Mutation_p.D1666N|CACNA1G_uc002isg.1_Missense_Mutation_p.D1632N|CACNA1G_uc002ish.1_Missense_Mutation_p.D1639N|CACNA1G_uc002isi.1_Missense_Mutation_p.D1627N	p.D1771N	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		32	5683	+	Breast(11;6.7e-17)		1771			IV.|Extracellular (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5311G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	14.24	2.477408	0.44044	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85	5.18	5.18	0.71444	Ion transport (1);	0.100880	0.64402	D	0.000003	D	0.97420	0.9156	N	0.21545	0.675	0.50039	D	0.999841	P;B;D;D;D;D;D;D;D;B;D;B;B;D;P;B;B;B;D;B;B;B;P;B;B	0.89917	0.773;0.05;0.999;0.999;1.0;0.993;0.999;0.999;0.999;0.198;0.998;0.035;0.047;0.998;0.716;0.097;0.083;0.012;0.999;0.198;0.051;0.022;0.848;0.022;0.019	P;B;D;D;D;D;D;D;D;B;D;B;B;D;B;B;B;B;D;B;B;B;P;B;B	0.97110	0.81;0.085;0.999;0.998;1.0;0.929;0.998;0.981;0.998;0.085;0.975;0.034;0.085;0.975;0.383;0.085;0.086;0.016;0.981;0.192;0.044;0.101;0.771;0.145;0.026	D	0.96407	0.9301	10	0.33940	T	0.23	.	12.0989	0.53772	0.0788:0.0:0.9212:0.0	.	1714;1726;1719;1753;1726;1746;1778;1737;1764;1760;1771;1748;1760;1760;1753;1760;1771;1748;1771;1737;1730;1737;1748;1771;1737	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	N	1748;1737;1737;1730;1748;1760;1726;1714;1719;1737;1771;1760;1726;1764;1737;1771;1746;1760;1778;1737;1771;1753;1753;1771;1760	ENSP00000353990:D1748N;ENSP00000339302:D1737N;ENSP00000347078:D1737N;ENSP00000409759:D1730N;ENSP00000425522:D1748N;ENSP00000426261:D1760N;ENSP00000425451:D1726N;ENSP00000422407:D1714N;ENSP00000426814:D1719N;ENSP00000427238:D1737N;ENSP00000423112:D1771N;ENSP00000420918:D1760N;ENSP00000426172:D1726N;ENSP00000423045:D1764N;ENSP00000427173:D1737N;ENSP00000426098:D1771N;ENSP00000425698:D1746N;ENSP00000426232:D1760N;ENSP00000423317:D1778N;ENSP00000350979:D1737N;ENSP00000352011:D1771N;ENSP00000414388:D1753N;ENSP00000423155:D1753N;ENSP00000422268:D1771N;ENSP00000421518:D1760N	ENSP00000339302:D1737N	D	+	1	0	CACNA1G	46050587	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.073000	0.41519	2.409000	0.81822	0.637000	0.83480	GAC		0.622	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		22	66	0	0	0	0	22	66				
TEX14	56155	broad.mit.edu	37	17	56676800	56676800	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:56676800T>C	ENST00000240361.8	-	14	2009	c.1924A>G	c.(1924-1926)Ata>Gta	p.I642V	TEX14_ENST00000349033.5_Missense_Mutation_p.I636V|TEX14_ENST00000389934.3_Missense_Mutation_p.I636V			Q8IWB6	TEX14_HUMAN	testis expressed 14	642					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCTCTTCTATGTCATCTTCC	0.502																																						uc010dcz.1		NA																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(1924-1926)ATA>GTA		testis expressed sequence 14 isoform a							88.0	88.0	88.0					17																	56676800		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56676800T>C	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1924A>G	17.37:g.56676800T>C	ENSP00000240361:p.Ile642Val					TEX14_uc002iwr.1_Missense_Mutation_p.I636V|TEX14_uc002iws.1_Missense_Mutation_p.I636V|TEX14_uc010dda.1_Missense_Mutation_p.I416V	p.I642V	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			14	2042	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		642					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.1924A>G	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.185328	0.38609	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.78246	-1.16;-1.16;-1.12	5.54	1.77	0.24775	.	1.199780	0.05861	N	0.622908	T	0.58666	0.2138	N	0.22421	0.69	0.09310	N	1	B;B;B	0.26845	0.1;0.161;0.161	B;B;B	0.20767	0.014;0.031;0.031	T	0.46830	-0.9163	10	0.18710	T	0.47	-1.5137	0.9504	0.01375	0.2745:0.0997:0.1682:0.4576	.	642;636;636	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	V	642;636;636	ENSP00000240361:I642V;ENSP00000374584:I636V;ENSP00000268910:I636V	ENSP00000240361:I642V	I	-	1	0	TEX14	54031799	0.000000	0.05858	0.019000	0.16419	0.415000	0.31203	0.070000	0.14573	0.918000	0.36919	0.533000	0.62120	ATA		0.502	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			18	77	0	0	0	0	18	77				
ABCA6	23460	broad.mit.edu	37	17	67094139	67094139	+	Silent	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:67094139C>T	ENST00000284425.2	-	23	3216	c.3042G>A	c.(3040-3042)ccG>ccA	p.P1014P	MIR4524B_ENST00000581569.1_RNA|ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1014					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGAACCATCCGGCAACCCAG	0.358																																						uc002jhw.1		NA																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(3040-3042)CCG>CCA		ATP-binding cassette, sub-family A, member 6							45.0	44.0	45.0					17																	67094139		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67094139C>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3042G>A	17.37:g.67094139C>T							p.P1014P	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			23	3217	-	Breast(10;5.65e-12)		1014			Helical; (Potential).		Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.3042G>A	CCDS11683.1																																																																																				0.358	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		6	25	0	0	0	0	6	25				
LLGL2	3993	broad.mit.edu	37	17	73568022	73568022	+	Silent	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:73568022C>A	ENST00000392550.3	+	19	2454	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	LLGL2_ENST00000577200.1_Silent_p.I779I|LLGL2_ENST00000167462.5_Silent_p.I779I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	779					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGTGGGCATCCTGGTGCTCG	0.667																																						uc002joh.2		NA																	0				ovary(2)	2						c.(2335-2337)ATC>ATA		lethal giant larvae homolog 2 isoform c							38.0	36.0	37.0					17																	73568022		2202	4300	6502	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73568022C>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2337C>A	17.37:g.73568022C>A						LLGL2_uc002joi.2_Silent_p.I779I|LLGL2_uc010dgg.1_Silent_p.I779I|LLGL2_uc002joj.2_Silent_p.I768I|LLGL2_uc010wsd.1_Silent_p.I406I	p.I779I	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		19	2491	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		779			WD 12.		Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.2337C>A	CCDS32733.1																																																																																				0.667	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		7	31	1	0	0.00198382	0.00222744	7	31				
ST6GALNAC1	55808	broad.mit.edu	37	17	74639688	74639688	+	Silent	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:74639688C>G	ENST00000156626.7	-	1	232	c.33G>C	c.(31-33)ctG>ctC	p.L11L	ST6GALNAC1_ENST00000589992.1_Silent_p.L11L|ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	11					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CGCCTTGGCTCAGGTGCCTGC	0.562																																						uc002jsh.2		NA																	0					0						c.(31-33)CTG>CTC		sialyltransferase 7A							85.0	74.0	78.0					17																	74639688		2203	4300	6503	SO:0001819	synonymous_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74639688C>G	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.33G>C	17.37:g.74639688C>G						ST6GALNAC1_uc002jsi.2_5'UTR|ST6GALNAC1_uc002jsj.2_RNA	p.L11L	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN			1	207	-			11			Cytoplasmic (Potential).		Q6UW90|Q9NSC6	Silent	SNP	ENST00000156626.7	37	c.33G>C	CCDS11748.1																																																																																				0.562	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		6	28	0	0	0	0	6	28				
SOCS3	9021	broad.mit.edu	37	17	76354904	76354904	+	Silent	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:76354904C>T	ENST00000330871.2	-	2	688	c.273G>A	c.(271-273)aaG>aaA	p.K91K	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	91	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			TGCGCAGGTTCTTGGTCCCAG	0.657																																						uc002jvl.2		NA																	0				ovary(1)	1						c.(271-273)AAG>AAA		suppressor of cytokine signaling 3							39.0	35.0	36.0					17																	76354904		2201	4300	6501	SO:0001819	synonymous_variant	9021				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity	g.chr17:76354904C>T	AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.273G>A	17.37:g.76354904C>T							p.K91K	NM_003955	NP_003946	O14543	SOCS3_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)		2	689	-			91			SH2.		O14509	Silent	SNP	ENST00000330871.2	37	c.273G>A	CCDS11756.1																																																																																				0.657	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437300.1			7	35	0	0	0	0	7	35				
PTPRS	5802	broad.mit.edu	37	19	5210481	5210481	+	Splice_Site	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:5210481C>T	ENST00000587303.1	-	34	5585	c.5486G>A	c.(5485-5487)cGg>cAg	p.R1829Q	PTPRS_ENST00000262963.6_Splice_Site_p.R1809Q|PTPRS_ENST00000372412.4_Splice_Site_p.R1830Q|PTPRS_ENST00000588012.1_Splice_Site_p.R1791Q|PTPRS_ENST00000348075.2_Splice_Site_p.R1791Q|PTPRS_ENST00000353284.2_Splice_Site_p.R1382Q|PTPRS_ENST00000357368.4_Splice_Site_p.R1829Q|PTPRS_ENST00000592099.1_Splice_Site_p.R1382Q|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1829	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)	TTCACTCACCCGGGCATCTGT	0.557																																						uc002mbv.2		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(5485-5487)CGG>CAG		protein tyrosine phosphatase, receptor type,							109.0	102.0	104.0					19																	5210481		2203	4300	6503	SO:0001630	splice_region_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5210481C>T	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.5487+1G>A	19.37:g.5210481C>T						PTPRS_uc002mbu.1_Missense_Mutation_p.R1398Q|PTPRS_uc010xin.1_Missense_Mutation_p.R1371Q|PTPRS_uc002mbw.2_Missense_Mutation_p.R1791Q|PTPRS_uc002mbx.2_Missense_Mutation_p.R1386Q|PTPRS_uc002mby.2_Missense_Mutation_p.R1382Q	p.R1829Q	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)	35	5720	-			1829			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5486G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	c	19.98	3.927729	0.73327	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	2.31	2.31	0.28768	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.084158	0.45361	U	0.000376	T	0.22936	0.0554	L	0.28694	0.88	0.80722	D	1	B;B;D;P;B;B	0.89917	0.106;0.387;1.0;0.926;0.205;0.274	B;B;D;B;B;B	0.79108	0.019;0.025;0.992;0.088;0.02;0.036	T	0.03130	-1.1069	10	0.87932	D	0	.	11.9545	0.52974	0.0:1.0:0.0:0.0	.	1411;1382;1386;1791;1829;1424	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	Q	1424;1830;1829;1829;1820;1809;1791;1411;1386;1382	ENSP00000361489:R1830Q;ENSP00000349932:R1829Q;ENSP00000262963:R1809Q;ENSP00000269907:R1791Q;ENSP00000327313:R1382Q	ENSP00000262963:R1809Q	R	-	2	0	PTPRS	5161481	1.000000	0.71417	0.998000	0.56505	0.721000	0.41392	5.796000	0.69080	1.299000	0.44798	0.486000	0.48141	CGG		0.557	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		Missense_Mutation	24	82	0	0	0	0	24	82				
PRAM1	84106	broad.mit.edu	37	19	8563261	8563261	+	Splice_Site	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:8563261T>C	ENST00000423345.4	-	2	1951	c.1431A>G	c.(1429-1431)atA>atG	p.I477M	PRAM1_ENST00000255612.3_Splice_Site_p.I477M			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	525	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCACCCACCTATGGATGCTG	0.697																																						uc002mkd.2		NA																	0					0						c.(1429-1431)ATA>ATG		PML-RARA regulated adaptor molecule 1							7.0	8.0	8.0					19																	8563261		1886	4057	5943	SO:0001630	splice_region_variant	84106						lipid binding|protein binding	g.chr19:8563261T>C	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1432+1A>G	19.37:g.8563261T>C						PRAM1_uc002mkc.2_Missense_Mutation_p.I477M	p.I477M	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN			2	1451	-			525					Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.1431A>G	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725222	0.30593	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.14391	2.51;2.51	4.05	3.03	0.35002	.	0.716055	0.11544	N	0.553404	T	0.06462	0.0166	N	0.08118	0	0.09310	N	1	P;P	0.41848	0.643;0.763	B;B	0.38056	0.179;0.264	T	0.23084	-1.0198	10	0.51188	T	0.08	.	4.6604	0.12639	0.0:0.1067:0.1935:0.6998	.	477;525	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	M	477	ENSP00000255612:I477M;ENSP00000408342:I477M	ENSP00000255612:I477M	I	-	3	3	PRAM1	8469261	0.993000	0.37304	0.661000	0.29709	0.092000	0.18411	1.125000	0.31332	0.695000	0.31675	0.379000	0.24179	ATA		0.697	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152	Missense_Mutation	6	5	0	0	0	0	6	5				
OR7A5	26659	broad.mit.edu	37	19	14938846	14938846	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:14938846C>A	ENST00000322301.3	-	2	295	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.D70Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	70					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						ACACAAATGTCAGCAAAGGAC	0.488																																						uc002mzw.2		NA																	0				central_nervous_system(2)	2						c.(208-210)GAC>TAC		olfactory receptor, family 7, subfamily A,							167.0	150.0	156.0					19																	14938846		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938846C>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.208G>T	19.37:g.14938846C>A	ENSP00000316955:p.Asp70Tyr					OR7A5_uc010xoa.1_Missense_Mutation_p.D70Y	p.D70Y	NM_017506	NP_059976	Q15622	OR7A5_HUMAN			1	431	-			70			Helical; Name=2; (Potential).		B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.208G>T	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	c	14.26	2.481902	0.44147	.	.	ENSG00000188269	ENST00000322301	T	0.01185	5.21	3.13	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32624	U	0.005849	T	0.08447	0.0210	H	0.99090	4.425	0.29387	N	0.862866	P	0.52842	0.956	P	0.49829	0.623	T	0.27434	-1.0074	10	0.87932	D	0	.	12.2501	0.54593	0.0:1.0:0.0:0.0	.	70	Q15622	OR7A5_HUMAN	Y	70	ENSP00000316955:D70Y	ENSP00000316955:D70Y	D	-	1	0	OR7A5	14799846	0.925000	0.31364	0.148000	0.22405	0.495000	0.33615	2.650000	0.46665	1.807000	0.52817	0.134000	0.15878	GAC		0.488	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		39	104	1	0	4.33e-17	5.49e-17	39	104				
BRD4	23476	broad.mit.edu	37	19	15374344	15374344	+	Missense_Mutation	SNP	G	G	A	rs200659364		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:15374344G>A	ENST00000263377.2	-	7	1449	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	BRD4_ENST00000360016.5_Missense_Mutation_p.R410C|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.R410C	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	410	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGGTACTCACGGGCCTCCAGT	0.532			T	C15orf55	lethal midline carcinoma of young people																																	uc002nar.2		NA		Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		0				ovary(2)	2						c.(1228-1230)CGT>TGT		bromodomain-containing protein 4 isoform long							126.0	96.0	106.0					19																	15374344		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15374344G>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1228C>T	19.37:g.15374344G>A	ENSP00000263377:p.Arg410Cys					BRD4_uc002nas.2_Missense_Mutation_p.R410C|BRD4_uc002nat.3_Missense_Mutation_p.R410C|BRD4_uc002nau.3_Missense_Mutation_p.R410C	p.R410C	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		7	1450	-			410			Bromo 2.		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.1228C>T	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578251	0.45902	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.32023	1.47;1.47;1.47	4.58	4.58	0.56647	Bromodomain (5);	0.000000	0.64402	D	0.000013	T	0.45696	0.1355	L	0.55017	1.72	0.58432	D	0.999995	D;P;D	0.89917	1.0;0.787;1.0	D;B;D	0.65773	0.938;0.135;0.928	T	0.37753	-0.9692	10	0.54805	T	0.06	-11.2998	10.264	0.43445	0.094:0.0:0.906:0.0	.	410;410;410	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	C	410	ENSP00000263377:R410C;ENSP00000360901:R410C;ENSP00000353112:R410C	ENSP00000263377:R410C	R	-	1	0	BRD4	15235344	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.510000	0.53393	2.271000	0.75665	0.407000	0.27541	CGT		0.532	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		17	34	0	0	0	0	17	34				
LILRA1	11024	broad.mit.edu	37	19	55107880	55107880	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr19:55107880C>G	ENST00000251372.3	+	7	1367	c.1185C>G	c.(1183-1185)taC>taG	p.Y395*	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	395	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CGGGGACCTACAGGTGCTACG	0.582																																						uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(1183-1185)TAC>TAG		leukocyte immunoglobulin-like receptor,							144.0	132.0	136.0					19																	55107880		2203	4300	6503	SO:0001587	stop_gained	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107880C>G	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1185C>G	19.37:g.55107880C>G	ENSP00000251372:p.Tyr395*					LILRA2_uc010yfg.1_Nonsense_Mutation_p.Y393*|LILRA1_uc010yfh.1_Nonsense_Mutation_p.Y395*	p.Y395*	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	7	1367	+			395			Ig-like C2-type 4.|Extracellular (Potential).		O75018|Q3MJA6	Nonsense_Mutation	SNP	ENST00000251372.3	37	c.1185C>G	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944989	0.73672	.	.	ENSG00000104974	ENST00000251372	.	.	.	1.8	-0.935	0.10423	.	0.307617	0.17987	U	0.155321	.	.	.	.	.	.	0.25300	N	0.989284	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7708	0.18251	0.5876:0.4124:0.0:0.0	.	.	.	.	X	395	.	ENSP00000251372:Y395X	Y	+	3	2	LILRA1	59799692	0.996000	0.38824	0.418000	0.26571	0.023000	0.10783	0.511000	0.22739	-0.143000	0.11334	0.205000	0.17691	TAC		0.582	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		10	210	0	0	0	0	10	210				
NBAS	51594	broad.mit.edu	37	2	15417095	15417095	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:15417095C>T	ENST00000281513.5	-	43	5294	c.5269G>A	c.(5269-5271)Gaa>Aaa	p.E1757K	NBAS_ENST00000441750.1_Missense_Mutation_p.E1637K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1757					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCAGCCTTTCGTGATCAAAG	0.438																																						uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(5269-5271)GAA>AAA		neuroblastoma-amplified protein							92.0	87.0	89.0					2																	15417095		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15417095C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5269G>A	2.37:g.15417095C>T	ENSP00000281513:p.Glu1757Lys					NBAS_uc010exl.1_Missense_Mutation_p.E829K|NBAS_uc002rcd.1_RNA	p.E1757K	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			43	5295	-			1757					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5269G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475530	0.43942	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.10099	2.91;3.08	5.61	4.73	0.59995	.	0.350885	0.34411	N	0.003987	T	0.13586	0.0329	L	0.47716	1.5	0.22511	N	0.999034	D;P	0.58268	0.982;0.729	B;B	0.43018	0.405;0.121	T	0.06197	-1.0840	10	0.87932	D	0	.	15.4884	0.75584	0.0:0.5835:0.4165:0.0	.	1637;1757	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	K	1637;1757	ENSP00000413201:E1637K;ENSP00000281513:E1757K	ENSP00000281513:E1757K	E	-	1	0	NBAS	15334546	0.168000	0.22989	0.708000	0.30435	0.910000	0.53928	1.456000	0.35201	1.544000	0.49359	-0.122000	0.15005	GAA		0.438	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		12	41	0	0	0	0	12	41				
ALK	238	broad.mit.edu	37	2	29462560	29462560	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:29462560C>T	ENST00000389048.3	-	13	3247	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	781					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGGCAGGCGTCCTCTCCCTGC	0.602			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(2341-2343)GAC>AAC		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						89.0	79.0	82.0					2																	29462560		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29462560C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2341G>A	2.37:g.29462560C>T	ENSP00000373700:p.Asp781Asn						p.D781N	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			13	3248	-	Acute lymphoblastic leukemia(172;0.155)		781			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2341G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711326	0.89112	.	.	ENSG00000171094	ENST00000389048	T	0.42900	0.96	5.16	5.16	0.70880	.	0.000000	0.49916	D	0.000135	T	0.59183	0.2175	L	0.46567	1.45	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55698	-0.8100	9	.	.	.	.	18.6541	0.91441	0.0:1.0:0.0:0.0	.	781	Q9UM73	ALK_HUMAN	N	781	ENSP00000373700:D781N	.	D	-	1	0	ALK	29316064	1.000000	0.71417	0.993000	0.49108	0.966000	0.64601	4.848000	0.62874	2.420000	0.82092	0.561000	0.74099	GAC		0.602	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		14	52	0	0	0	0	14	52				
NLRC4	58484	broad.mit.edu	37	2	32477515	32477515	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:32477515G>A	ENST00000404025.2	-	4	723	c.235C>T	c.(235-237)Cct>Tct	p.P79S	NLRC4_ENST00000402280.1_Missense_Mutation_p.P79S|NLRC4_ENST00000360906.5_Missense_Mutation_p.P79S|NLRC4_ENST00000342905.6_Missense_Mutation_p.P79S			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	79	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.P79S(1)|p.P79T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAAATAGAGGATAGTTCCAC	0.413																																						uc002roi.2		NA																	2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(235-237)CCT>TCT		caspase recruitment domain protein 12							88.0	88.0	88.0					2																	32477515		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32477515G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.235C>T	2.37:g.32477515G>A	ENSP00000385090:p.Pro79Ser					NLRC4_uc002roj.1_Missense_Mutation_p.P79S|NLRC4_uc010ezt.1_Missense_Mutation_p.P79S	p.P79S	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			3	481	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		79			CARD.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.235C>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	4.916	0.170148	0.09339	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	4.1	-0.286	0.12862	DEATH-like (2);Caspase Recruitment (2);	0.644144	0.13321	N	0.396706	T	0.10465	0.0256	L	0.27053	0.805	0.27514	N	0.951604	B;B	0.27932	0.194;0.032	B;B	0.21546	0.035;0.017	T	0.29941	-0.9995	9	0.21014	T	0.42	-1.6523	4.0161	0.09644	0.2892:0.3587:0.3521:0.0	.	79;79	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	S	79	ENSP00000354159:P79S;ENSP00000385428:P79S;ENSP00000339666:P79S;ENSP00000385090:P79S	ENSP00000339666:P79S	P	-	1	0	NLRC4	32331019	0.538000	0.26394	0.179000	0.23059	0.469000	0.32828	-0.049000	0.11924	0.071000	0.16664	0.411000	0.27672	CCT		0.413	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		9	62	0	0	0	0	9	62				
PNPT1	87178	broad.mit.edu	37	2	55895069	55895069	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:55895069T>G	ENST00000447944.2	-	12	1087	c.1001A>C	c.(1000-1002)tAt>tCt	p.Y334S		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	334					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TATTATTTCATATGGATCGGC	0.279																																						uc002rzf.2		NA																	0					0						c.(1000-1002)TAT>TCT		polyribonucleotide nucleotidyltransferase 1							47.0	49.0	48.0					2																	55895069		2200	4291	6491	SO:0001583	missense	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55895069T>G	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1001A>C	2.37:g.55895069T>G	ENSP00000400646:p.Tyr334Ser					PNPT1_uc002rzg.2_RNA	p.Y334S	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		12	1054	-			334					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.1001A>C	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	T	6.609	0.480809	0.12581	.	.	ENSG00000138035	ENST00000447944	T	0.56103	0.48	5.83	-3.48	0.04739	Polynucleotide phosphorylase, phosphorolytic RNA-binding, bacterial/organelle-type (3);	0.342788	0.31685	N	0.007240	T	0.21307	0.0513	N	0.12182	0.205	0.36186	D	0.849721	B	0.02656	0.0	B	0.09377	0.004	T	0.17684	-1.0361	10	0.08599	T	0.76	-2.7904	4.3429	0.11119	0.5305:0.0603:0.1051:0.3041	.	334	Q8TCS8	PNPT1_HUMAN	S	334	ENSP00000400646:Y334S	ENSP00000386075:Y334S	Y	-	2	0	PNPT1	55748573	1.000000	0.71417	0.433000	0.26760	0.432000	0.31715	0.567000	0.23608	-0.333000	0.08476	-0.309000	0.09137	TAT		0.279	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		13	34	0	0	0	0	13	34				
VWA3B	200403	broad.mit.edu	37	2	98914471	98914471	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:98914471G>A	ENST00000477737.1	+	24	3463	c.3259G>A	c.(3259-3261)Gcc>Acc	p.A1087T	AC092675.1_ENST00000401293.1_RNA|VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1087										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTGGGGGGCGCCATGCCCTG	0.587																																						uc002syo.2		NA																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(3259-3261)GCC>ACC		von Willebrand factor A domain containing 3B							63.0	68.0	67.0					2																	98914471		2099	4193	6292	SO:0001583	missense	200403							g.chr2:98914471G>A	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.3259G>A	2.37:g.98914471G>A	ENSP00000417955:p.Ala1087Thr					VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.A744T|VWA3B_uc002syp.1_Missense_Mutation_p.A479T|VWA3B_uc002syq.1_Missense_Mutation_p.A363T|VWA3B_uc002syr.1_Missense_Mutation_p.A404T|VWA3B_uc002sys.2_RNA	p.A1087T	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			24	3523	+			1087					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.3259G>A	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.39|18.39	3.614548|3.614548	0.66672|0.66672	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737;ENST00000358269|ENST00000473149	T|.	0.25085|.	1.82|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.000000|.	0.32548|.	U|.	0.005960|.	T|T	0.70168|0.70168	0.3193|0.3193	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.979|.	D;B|.	0.87578|.	0.998;0.328|.	T|T	0.67654|0.67654	-0.5615|-0.5615	10|5	0.87932|.	D|.	0|.	.|.	15.5072|15.5072	0.75750|0.75750	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	479;1087|.	Q502W6-5;Q502W6|.	.;VWA3B_HUMAN|.	T|H	1087;209|497	ENSP00000417955:A1087T|.	ENSP00000351009:A209T|.	A|R	+|+	1|2	0|0	VWA3B|VWA3B	98280903|98280903	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.756000|0.756000	0.42949|0.42949	2.975000|2.975000	0.49281|0.49281	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.587	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		21	89	0	0	0	0	21	89				
TTN	7273	broad.mit.edu	37	2	179474486	179474486	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr2:179474486C>T	ENST00000591111.1	-	222	46965	c.46741G>A	c.(46741-46743)Gtg>Atg	p.V15581M	TTN_ENST00000589042.1_Missense_Mutation_p.V17222M|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V8157M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V8282M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V8349M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V14654M			Q8WZ42	TITIN_HUMAN	titin	15581	Fibronectin type-III 13. {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)			TCTGCTCGCACACGGAATTGG	0.483																																						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.(43960-43962)GTG>ATG		titin isoform N2-A							309.0	293.0	298.0					2																	179474486		1905	4119	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474486C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46741G>A	2.37:g.179474486C>T	ENSP00000465570:p.Val15581Met					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V8349M|TTN_uc010zfi.1_Missense_Mutation_p.V8282M|TTN_uc010zfj.1_Missense_Mutation_p.V8157M	p.V14654M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		221	44184	-			15581					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.43960G>A		.	.	.	.	.	.	.	.	.	.	C	16.47	3.133300	0.56828	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	5.85	5.85	0.93711	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88009	0.6322	M	0.88512	2.96	0.58432	D	0.999999	D;D;D;D	0.61697	0.99;0.99;0.99;0.99	P;P;P;P	0.60886	0.88;0.88;0.88;0.88	D	0.89413	0.3704	9	0.87932	D	0	.	20.1649	0.98147	0.0:1.0:0.0:0.0	.	8157;8282;8349;15581	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	14654;8157;8349;8282;8157	ENSP00000343764:V14654M;ENSP00000434586:V8157M;ENSP00000340554:V8349M;ENSP00000352154:V8282M	ENSP00000340554:V8349M	V	-	1	0	TTN	179182731	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.093000	0.71422	2.753000	0.94483	0.655000	0.94253	GTG		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	411	0	0	0	0	15	411				
DEFB121	245934	broad.mit.edu	37	20	29992772	29992772	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:29992772C>T	ENST00000376314.2	-	2	288	c.175G>A	c.(175-177)Gta>Ata	p.V59I	DEFB121_ENST00000376312.3_5'UTR	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	59					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTTGGTTTTACAGGTACATAC	0.413																																						uc002wvv.1		NA																	0					0						c.(175-177)GTA>ATA		defensin, beta 121 precursor							292.0	263.0	273.0					20																	29992772		2203	4300	6503	SO:0001583	missense	245934				defense response to bacterium	extracellular region		g.chr20:29992772C>T	AI476463	CCDS33456.1	20q11.1	2008-07-17			ENSG00000204548	ENSG00000204548		"""Defensins, beta"""	18101	protein-coding gene	gene with protein product	"""defensin, beta 21"""					11854508	Standard	NM_001011878		Approved	DEFB-21	uc021wbq.1	Q5J5C9	OTTHUMG00000032171	ENST00000376314.2:c.175G>A	20.37:g.29992772C>T	ENSP00000417128:p.Val59Ile						p.V59I	NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	211	-	all_hematologic(12;0.158)		59					A1L4N1	Missense_Mutation	SNP	ENST00000376314.2	37	c.175G>A	CCDS33456.1	.	.	.	.	.	.	.	.	.	.	C	8.503	0.864774	0.17250	.	.	ENSG00000204548	ENST00000376314	T	0.09350	2.99	3.09	-1.58	0.08479	.	2.527230	0.02106	N	0.054370	T	0.03739	0.0106	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.25467	-1.0131	9	0.06757	T	0.87	-1.8525	0.338	0.00329	0.2325:0.3332:0.1713:0.263	.	59	Q5J5C9	DB121_HUMAN	I	59	ENSP00000417128:V59I	ENSP00000417128:V59I	V	-	1	0	DEFB121	29456433	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	-0.791000	0.04599	-0.303000	0.08856	0.563000	0.77884	GTA		0.413	DEFB121-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354404.1	NM_001011878		21	56	0	0	0	0	21	56				
NCOA6	23054	broad.mit.edu	37	20	33369945	33369945	+	Missense_Mutation	SNP	C	C	T	rs371910976		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:33369945C>T	ENST00000374796.2	-	4	2784	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	NCOA6_ENST00000359003.2_Missense_Mutation_p.V72M			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	72	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AAATTGGGCACGTTTTTCAAT	0.313																																						uc002xav.2		NA																	0				ovary(3)|breast(3)|central_nervous_system(1)	7						c.(214-216)GTG>ATG		nuclear receptor coactivator 6		C	MET/VAL,MET/VAL	1,4401	2.1+/-5.4	0,1,2200	45.0	42.0	43.0		214,214	5.8	1.0	20		43	0,8598		0,0,4299	no	missense,missense	NCOA6	NM_001242539.1,NM_014071.3	21,21	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	72/1071,72/2064	33369945	1,12999	2201	4299	6500	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33369945C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.214G>A	20.37:g.33369945C>T	ENSP00000363929:p.Val72Met					NCOA6_uc002xaw.2_Missense_Mutation_p.V72M|NCOA6_uc010gew.1_Missense_Mutation_p.V72M	p.V72M	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			4	2785	-			72			TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.214G>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967312	0.74131	2.27E-4	0.0	ENSG00000198646	ENST00000374796;ENST00000359003;ENST00000397675	T;T	0.27557	1.66;1.66	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000006	T	0.46386	0.1390	L	0.27053	0.805	0.45541	D	0.998492	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.37407	-0.9707	10	0.52906	T	0.07	-9.9013	20.1295	0.97995	0.0:1.0:0.0:0.0	.	72;72	F6M2K2;Q14686	.;NCOA6_HUMAN	M	72	ENSP00000363929:V72M;ENSP00000351894:V72M	ENSP00000351894:V72M	V	-	1	0	NCOA6	32833606	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.059000	0.64306	2.758000	0.94735	0.591000	0.81541	GTG		0.313	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		7	25	0	0	0	0	7	25				
TRPC4AP	26133	broad.mit.edu	37	20	33587469	33587469	+	IGR	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:33587469G>A	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.E1588K			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CGAGAAGAGTGAGATCCAGGC	0.622																																						uc002xbi.1		NA																	0				ovary(1)|breast(1)	2						c.(4762-4764)GAG>AAG		myosin, heavy polypeptide 7B, cardiac muscle,							54.0	66.0	62.0					20																	33587469		2098	4227	6325	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33587469G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33587469G>A							p.E1588K	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		35	4854	+			1546			Potential.		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.4762G>A	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795328	0.70452	.	.	ENSG00000078814	ENST00000262873	D	0.81739	-1.53	4.26	4.26	0.50523	Myosin tail (1);	0.000000	0.35124	N	0.003437	D	0.84813	0.5555	M	0.92970	3.365	0.58432	D	0.999997	P	0.43231	0.801	B	0.37780	0.258	D	0.89962	0.4087	10	0.87932	D	0	.	17.288	0.87147	0.0:0.0:1.0:0.0	.	1546	A7E2Y1	MYH7B_HUMAN	K	1588	ENSP00000262873:E1588K	ENSP00000262873:E1588K	E	+	1	0	MYH7B	33051130	1.000000	0.71417	0.990000	0.47175	0.898000	0.52572	7.694000	0.84235	2.381000	0.81170	0.555000	0.69702	GAG		0.622	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		9	41	0	0	0	0	9	41				
SEMG1	6406	broad.mit.edu	37	20	43836893	43836893	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr20:43836893G>A	ENST00000372781.3	+	2	1012	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	SEMG1_ENST00000244069.6_Intron	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	319	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TAGCCAAACTGAAGAGAAAGC	0.378																																						uc002xni.2		NA																	0				skin(2)	2						c.(955-957)GAA>AAA		semenogelin I preproprotein							73.0	69.0	70.0					20																	43836893		2201	4294	6495	SO:0001583	missense	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836893G>A		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.955G>A	20.37:g.43836893G>A	ENSP00000361867:p.Glu319Lys					SEMG1_uc002xnj.2_Intron|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.E319K	p.E319K	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	1012	+		Myeloproliferative disorder(115;0.0122)	319			58 AA repeat 1.		Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.955G>A	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	G	7.670	0.686779	0.14973	.	.	ENSG00000124233	ENST00000372781	T	0.10288	2.89	1.54	-2.47	0.06442	.	.	.	.	.	T	0.17408	0.0418	M	0.82716	2.605	0.09310	N	1	P;P	0.50819	0.58;0.939	B;P	0.51453	0.303;0.67	T	0.11567	-1.0582	9	0.24483	T	0.36	.	2.6535	0.05005	0.402:0.2627:0.3353:0.0	.	319;319	P04279;E7EPD3	SEMG1_HUMAN;.	K	319	ENSP00000361867:E319K	ENSP00000361867:E319K	E	+	1	0	SEMG1	43270307	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.018000	0.13422	-0.721000	0.04929	-0.259000	0.10710	GAA		0.378	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		7	32	0	0	0	0	7	32				
TTC3	7267	broad.mit.edu	37	21	38467718	38467718	+	Missense_Mutation	SNP	C	C	G	rs375469497		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr21:38467718C>G	ENST00000399017.2	+	9	3503	c.756C>G	c.(754-756)atC>atG	p.I252M	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000399010.1_Missense_Mutation_p.I252M|TTC3_ENST00000354749.2_Missense_Mutation_p.I252M|TTC3_ENST00000355666.1_Missense_Mutation_p.I252M	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	252					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TAGCTATTATCTATTACACCA	0.333																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(754-756)ATC>ATG		tetratricopeptide repeat domain 3							69.0	75.0	73.0					21																	38467718		2203	4299	6502	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38467718C>G	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.756C>G	21.37:g.38467718C>G	ENSP00000381981:p.Ile252Met					TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.I252M|TTC3_uc002ywb.2_Missense_Mutation_p.I252M|TTC3_uc010gnf.2_Missense_Mutation_p.I17M|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.I252M	p.I252M	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			9	861	+		Myeloproliferative disorder(46;0.0412)	252			TPR 1.		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.756C>G	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305804	0.60305	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.59502	1.27;1.27;1.27;0.26;0.26;0.26;0.26	5.34	2.45	0.29901	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.108391	0.39210	N	0.001438	T	0.57125	0.2032	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56135	-0.8029	10	0.48119	T	0.1	-3.613	3.3286	0.07076	0.1909:0.5435:0.0:0.2656	.	252	P53804	TTC3_HUMAN	M	252;252;234;252;252;252;252	ENSP00000403943:I252M;ENSP00000408456:I252M;ENSP00000391891:I234M;ENSP00000347889:I252M;ENSP00000381974:I252M;ENSP00000381981:I252M;ENSP00000346791:I252M	ENSP00000346791:I252M	I	+	3	3	TTC3	37389588	0.973000	0.33851	1.000000	0.80357	0.995000	0.86356	-0.146000	0.10250	0.715000	0.32103	-0.188000	0.12872	ATC		0.333	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			6	73	0	0	0	0	6	73				
TRPM2	7226	broad.mit.edu	37	21	45859043	45859044	+	Missense_Mutation	DNP	GG	GG	TT	rs142254503	byFrequency	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr21:45859043_45859044GG>TT	ENST00000397928.1	+	30	4706_4707	c.4261_4262GG>TT	c.(4261-4263)GGc>TTc	p.G1421F	TRPM2_ENST00000300481.9_Missense_Mutation_p.G1367F|snoZ6_ENST00000583496.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.G1471F|TRPM2_ENST00000300482.5_Missense_Mutation_p.G1421F|TRPM2_ENST00000498430.1_3'UTR|snoZ6_ENST00000581669.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1421	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTGAAGTGCGGCATGGAGGTA	0.599																																						uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4261-4263)GGC>TTC		transient receptor potential cation channel,																																				SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45859043_45859044GG>TT	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	Exception_encountered	21.37:g.45859043_45859044delinsTT	ENSP00000381023:p.Gly1421Phe					TRPM2_uc002zeu.1_Missense_Mutation_p.G1421F|TRPM2_uc002zew.1_Missense_Mutation_p.G1421F|TRPM2_uc010gpt.1_Missense_Mutation_p.G1471F|TRPM2_uc002zex.1_Missense_Mutation_p.G1207F|TRPM2_uc002zey.1_Missense_Mutation_p.G900F|TRPM2_uc011aff.1_Missense_Mutation_p.G102F	p.G1421F	NM_003307	NP_003298	O94759	TRPM2_HUMAN			31	4474_4475	+			1421			Nudix hydrolase.|Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	DNP	ENST00000397928.1	37	c.4261_4262GG>TT	CCDS13710.1																																																																																				0.599	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		7	31	0	0	0	0	7	31				
CCDC116	164592	broad.mit.edu	37	22	21988525	21988525	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr22:21988525G>T	ENST00000292779.3	+	3	448	c.287G>T	c.(286-288)cGc>cTc	p.R96L	CCDC116_ENST00000607942.1_Missense_Mutation_p.R96L	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	96			R -> C (in dbSNP:rs861854).					p.R96L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCGACTGAGCGCATGGCTGCC	0.632																																						uc002zve.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(286-288)CGC>CTC		coiled-coil domain containing 116							101.0	92.0	95.0					22																	21988525		2203	4300	6503	SO:0001583	missense	164592							g.chr22:21988525G>T	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.287G>T	22.37:g.21988525G>T	ENSP00000292779:p.Arg96Leu					CCDC116_uc011aih.1_Missense_Mutation_p.R96L	p.R96L	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN			3	380	+	Colorectal(54;0.105)		96			Potential.		Q8N9Y9	Missense_Mutation	SNP	ENST00000292779.3	37	c.287G>T	CCDS13791.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196369	0.58126	.	.	ENSG00000161180	ENST00000292779	T	0.22945	1.93	4.55	2.44	0.29823	.	0.657051	0.13333	N	0.395798	T	0.19725	0.0474	L	0.43923	1.385	0.09310	N	1	B;B	0.32573	0.262;0.376	B;B	0.34722	0.062;0.188	T	0.14364	-1.0475	9	.	.	.	-64.5118	5.1816	0.15163	0.1046:0.0:0.6906:0.2048	.	96;96	B7Z7H5;Q8IYX3-2	.;.	L	96	ENSP00000292779:R96L	.	R	+	2	0	CCDC116	20318525	0.086000	0.21541	0.026000	0.17262	0.883000	0.51084	0.211000	0.17474	1.259000	0.44117	0.585000	0.79938	CGC		0.632	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1	NM_152612		26	66	1	0	4.6e-10	5.75e-10	26	66				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496|rs146546850	byFrequency	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr22:29091840_29091841TG>CA	ENST00000405598.1	-	12	1307_1308	c.1116_1117CA>TG	c.(1114-1119)tcCAag>tcTGag	p.K373E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCAA	0.416			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NA	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			17	Substitution - Missense(9)|Substitution - coding silent(8)	p.K373E(2)|p.S372S(1)	kidney(8)|prostate(4)|endometrium(2)|central_nervous_system(2)|stomach(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1114-1119)TCCAAG>TCTGAG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a																																				SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840_29091841TG>CA	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116_1117delinsCA	22.37:g.29091840_29091841delinsCA	ENSP00000386087:p.Lys373Glu					CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E	p.K373E	NM_007194	NP_009125	O96017	CHK2_HUMAN			11	1188_1189	-			373			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	DNP	ENST00000405598.1	37	c.1116_1117CA>TG	CCDS13843.1																																																																																				0.416	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	27	0	0	0	0	6	27				
AP1B1	162	broad.mit.edu	37	22	29737728	29737728	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr22:29737728G>A	ENST00000405198.1	-	12	1589	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	AP1B1_ENST00000357586.2_Missense_Mutation_p.R520W|AP1B1_ENST00000402502.1_Missense_Mutation_p.R520W|AP1B1_ENST00000432560.2_Missense_Mutation_p.R520W|AP1B1_ENST00000356015.2_Missense_Mutation_p.R520W|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000317368.7_Missense_Mutation_p.R520W|AP1B1_ENST00000415447.1_Missense_Mutation_p.R520W			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	520					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCACGGTCCCGCAGGTCTGGG	0.597																																						uc003afj.2		NA																	0				ovary(1)|skin(1)	2						c.(1558-1560)CGG>TGG		adaptor-related protein complex 1 beta 1 subunit							48.0	45.0	46.0					22																	29737728		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29737728G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1558C>T	22.37:g.29737728G>A	ENSP00000384194:p.Arg520Trp					AP1B1_uc003afi.2_Missense_Mutation_p.R520W|AP1B1_uc003afk.2_Missense_Mutation_p.R520W|AP1B1_uc003afl.2_Missense_Mutation_p.R520W|AP1B1_uc011ako.1_Missense_Mutation_p.R73W	p.R520W	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			13	1742	-			520					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.1558C>T	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846424	0.91277	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.66	5.66	0.87406	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	H	0.98802	4.335	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.86875	0.2038	10	0.87932	D	0	-27.0152	19.3511	0.94387	0.0:0.0:1.0:0.0	.	73;520;520;520;520	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	W	520	ENSP00000350199:R520W;ENSP00000348297:R520W;ENSP00000400065:R520W;ENSP00000384194:R520W;ENSP00000319361:R520W;ENSP00000386071:R520W;ENSP00000387612:R520W;ENSP00000400022:R520W	ENSP00000319361:R520W	R	-	1	2	AP1B1	28067728	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.505000	0.45424	2.665000	0.90641	0.655000	0.94253	CGG		0.597	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		20	36	0	0	0	0	20	36				
HRH1	3269	broad.mit.edu	37	3	11300945	11300945	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:11300945G>A	ENST00000397056.1	+	3	413	c.222G>A	c.(220-222)ttG>ttA	p.L74L	HRH1_ENST00000438284.2_Silent_p.L74L|HRH1_ENST00000431010.2_Silent_p.L74L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	74					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TGGCGGACTTGATCGTGGGTG	0.577																																						uc010hdr.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(220-222)TTG>TTA		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						159.0	126.0	137.0					3																	11300945		2203	4300	6503	SO:0001819	synonymous_variant	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11300945G>A		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.222G>A	3.37:g.11300945G>A						HRH1_uc010hds.2_Silent_p.L74L|HRH1_uc010hdt.2_Silent_p.L74L|HRH1_uc003bwb.3_Silent_p.L74L	p.L74L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN			2	564	+			74			Helical; Name=2; (Potential).		A8K047|Q6P9E5	Silent	SNP	ENST00000397056.1	37	c.222G>A	CCDS2604.1																																																																																				0.577	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2			13	97	0	0	0	0	13	97				
GALNT15	117248	broad.mit.edu	37	3	16216900	16216900	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:16216900T>C	ENST00000339732.5	+	1	745	c.242T>C	c.(241-243)cTg>cCg	p.L81P	GALNT15_ENST00000437509.1_Missense_Mutation_p.L81P	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	81					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TACAGCCCTCTGGAGGGCCTG	0.617																																						uc003car.3		NA																	0				breast(1)	1						c.(241-243)CTG>CCG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							75.0	75.0	75.0					3																	16216900		2203	4300	6503	SO:0001583	missense	117248					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr3:16216900T>C	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.242T>C	3.37:g.16216900T>C	ENSP00000344260:p.Leu81Pro					GALNTL2_uc003caq.3_Intron	p.L81P	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN			1	717	+			81			Lumenal (Potential).		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.242T>C	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356894	0.61293	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.60672	0.4;0.17	4.17	4.17	0.49024	.	5.580450	0.00166	N	0.000003	T	0.63165	0.2488	N	0.14661	0.345	0.58432	D	0.999992	D	0.65815	0.995	P	0.60886	0.88	T	0.53056	-0.8492	10	0.72032	D	0.01	.	12.1354	0.53968	0.0:0.0:0.0:1.0	.	81	Q8N3T1	GLTL2_HUMAN	P	81	ENSP00000344260:L81P;ENSP00000395873:L81P	ENSP00000344260:L81P	L	+	2	0	GALNTL2	16191904	0.998000	0.40836	0.845000	0.33349	0.937000	0.57800	3.258000	0.51507	1.693000	0.51124	0.363000	0.22086	CTG		0.617	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		4	64	0	0	0	0	4	64				
CD200R1L	344807	broad.mit.edu	37	3	112538730	112538730	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:112538730G>A	ENST00000398214.1	-	5	917	c.692C>T	c.(691-693)tCa>tTa	p.S231L	CD200R1L_ENST00000448932.1_Missense_Mutation_p.S210L|CD200R1L_ENST00000488794.1_Missense_Mutation_p.S210L	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	231						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TGGAGATCCTGAGGTTCTGAG	0.353																																						uc003dzi.1		NA																	0				ovary(1)	1						c.(691-693)TCA>TTA		CD200 cell surface glycoprotein receptor 2							84.0	81.0	82.0					3																	112538730		1852	4094	5946	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112538730G>A	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.692C>T	3.37:g.112538730G>A	ENSP00000381272:p.Ser231Leu					CD200R1L_uc011bhw.1_Missense_Mutation_p.S210L|CD200R1L_uc010hqf.1_Missense_Mutation_p.S210L	p.S231L	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN			5	918	-			231			Extracellular (Potential).		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.692C>T	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	G	6.574	0.474155	0.12521	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.18657	2.2;2.22;2.22	4.46	0.207	0.15214	.	2.511590	0.01933	N	0.041356	T	0.12008	0.0292	N	0.14661	0.345	0.09310	N	1	B	0.25105	0.118	B	0.19666	0.026	T	0.16482	-1.0401	10	0.25751	T	0.34	.	3.7393	0.08523	0.3517:0.2002:0.4481:0.0	.	231	Q6Q8B3	MO2R2_HUMAN	L	231;210;210	ENSP00000381272:S231L;ENSP00000418413:S210L;ENSP00000415132:S210L	ENSP00000381272:S231L	S	-	2	0	CD200R1L	114021420	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.491000	0.22419	0.019000	0.15079	0.650000	0.86243	TCA		0.353	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		8	58	0	0	0	0	8	58				
ZXDC	79364	broad.mit.edu	37	3	126180734	126180734	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:126180734G>A	ENST00000389709.3	-	6	1824	c.1771C>T	c.(1771-1773)Ctg>Ttg	p.L591L	ZXDC_ENST00000336332.5_Silent_p.L591L	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	591	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCCTGCTGCAGAACCGTGGCT	0.602																																						uc003eiv.2		NA																	0				ovary(1)	1						c.(1771-1773)CTG>TTG		ZXD family zinc finger C isoform 1							70.0	77.0	74.0					3																	126180734		2155	4265	6420	SO:0001819	synonymous_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126180734G>A	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1771C>T	3.37:g.126180734G>A						ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Silent_p.L591L	p.L591L	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	6	1825	-			591			Required for transcriptional activation.		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Silent	SNP	ENST00000389709.3	37	c.1771C>T	CCDS43145.1																																																																																				0.602	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		23	90	0	0	0	0	23	90				
ATP13A3	79572	broad.mit.edu	37	3	194126832	194126832	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr3:194126832C>T	ENST00000439040.1	-	33	4288	c.3497G>A	c.(3496-3498)cGg>cAg	p.R1166Q	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R1166Q			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1166						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTTTCCCCACCGATCCACTGA	0.433																																						uc003fty.3		NA																	0				ovary(1)	1						c.(3496-3498)CGG>CAG		ATPase type 13A3							89.0	84.0	85.0					3																	194126832		2019	4213	6232	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194126832C>T	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3497G>A	3.37:g.194126832C>T	ENSP00000416508:p.Arg1166Gln					ATP13A3_uc003ftx.3_Missense_Mutation_p.R75Q	p.R1166Q	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	32	3899	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1166					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.3497G>A	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762819	0.31228	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	T;T	0.47177	0.85;0.85	5.79	3.88	0.44766	.	0.735097	0.13465	N	0.385802	T	0.29882	0.0747	N	0.19112	0.55	0.21064	N	0.999796	B	0.09022	0.002	B	0.04013	0.001	T	0.15093	-1.0449	10	0.10111	T	0.7	-18.4112	11.0125	0.47671	0.0:0.8405:0.0:0.1595	.	1166	Q9H7F0	AT133_HUMAN	Q	1166	ENSP00000416508:R1166Q;ENSP00000256031:R1166Q	ENSP00000256031:R1166Q	R	-	2	0	ATP13A3	195608121	0.152000	0.22762	0.980000	0.43619	0.992000	0.81027	1.335000	0.33839	1.313000	0.45069	0.650000	0.86243	CGG		0.433	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		7	61	0	0	0	0	7	61				
GK2	2712	broad.mit.edu	37	4	80328273	80328273	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:80328273A>G	ENST00000358842.3	-	1	1099	c.1082T>C	c.(1081-1083)gTc>gCc	p.V361A		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAAGGCTGGGACAAAGTAACA	0.413																																						uc003hlu.2		NA																	0				ovary(2)|skin(2)	4						c.(1081-1083)GTC>GCC		glycerol kinase 2							104.0	100.0	101.0					4																	80328273		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328273A>G	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1082T>C	4.37:g.80328273A>G	ENSP00000351706:p.Val361Ala						p.V361A	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	1100	-			361					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.1082T>C	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591788	0.66219	.	.	ENSG00000196475	ENST00000358842	D	0.86694	-2.16	4.04	4.04	0.47022	Carbohydrate kinase, FGGY, C-terminal (1);	0.060780	0.64402	D	0.000004	D	0.95809	0.8636	H	0.99454	4.575	0.58432	D	0.999998	P	0.52061	0.95	P	0.62014	0.897	D	0.96565	0.9418	10	0.87932	D	0	-14.9841	11.5957	0.50972	1.0:0.0:0.0:0.0	.	361	Q14410	GLPK2_HUMAN	A	361	ENSP00000351706:V361A	ENSP00000351706:V361A	V	-	2	0	GK2	80547297	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.273000	0.89887	2.068000	0.61886	0.477000	0.44152	GTC		0.413	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		17	89	0	0	0	0	17	89				
HADH	3033	broad.mit.edu	37	4	108935703	108935703	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:108935703G>A	ENST00000309522.3	+	3	527	c.378G>A	c.(376-378)gtG>gtA	p.V126V	HADH_ENST00000454409.2_Silent_p.V130V|HADH_ENST00000505878.1_Silent_p.V130V|HADH_ENST00000403312.1_Silent_p.V185V|HADH_ENST00000603302.1_Silent_p.V126V	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	454					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		ATCTGAAGGTGAAAAACGAGC	0.448																																						uc003hyq.2		NA																	0				ovary(1)	1						c.(376-378)GTG>GTA		L-3-hydroxyacyl-Coenzyme A dehydrogenase	NADH(DB00157)						159.0	144.0	149.0					4																	108935703		2203	4300	6503	SO:0001819	synonymous_variant	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108935703G>A	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.378G>A	4.37:g.108935703G>A						HADH_uc010ilx.2_Silent_p.V126V|HADH_uc010ily.2_Intron|HADH_uc003hyr.2_Silent_p.V130V	p.V126V	NM_005327	NP_005318	Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	3	527	+		Hepatocellular(203;0.217)	126					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000309522.3	37	c.378G>A	CCDS3678.1																																																																																				0.448	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		19	87	0	0	0	0	19	87				
MGARP	84709	broad.mit.edu	37	4	140196504	140196504	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:140196504G>C	ENST00000398955.1	-	2	304	c.125C>G	c.(124-126)tCt>tGt	p.S42C		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	42					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											ATTTGATCCAGATGATCCAGG	0.368																																						uc003ihr.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(124-126)TCT>TGT		ovary-specific acidic protein							119.0	109.0	112.0					4																	140196504		1920	4124	6044	SO:0001583	missense	84709					integral to membrane		g.chr4:140196504G>C	AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"""ovary-specific acidic protein"", ""corneal endothelium-specific protein 1"", ""hypoxia up-regulated mitochondrial movement regulator"""		"""chromosome 4 open reading frame 49"""	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.125C>G	4.37:g.140196504G>C	ENSP00000381928:p.Ser42Cys						p.S42C	NM_032623	NP_116012	Q8TDB4	CD049_HUMAN			2	305	-			42			Helical; (Potential).		Q9BZC3	Missense_Mutation	SNP	ENST00000398955.1	37	c.125C>G	CCDS43269.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635678	0.67130	.	.	ENSG00000137463	ENST00000398955	T	0.60040	0.22	5.73	4.86	0.63082	.	0.163705	0.56097	D	0.000034	T	0.71913	0.3396	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.74450	-0.3661	10	0.59425	D	0.04	-12.2543	12.8402	0.57797	0.0:0.1638:0.8362:0.0	.	42	Q8TDB4	CD049_HUMAN	C	42	ENSP00000381928:S42C	ENSP00000381928:S42C	S	-	2	0	C4orf49	140415954	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.446000	0.52928	1.503000	0.48686	0.555000	0.69702	TCT		0.368	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1	NM_032623		3	53	0	0	0	0	3	53				
FHDC1	85462	broad.mit.edu	37	4	153897721	153897721	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:153897721G>A	ENST00000511601.1	+	12	3466	c.3278G>A	c.(3277-3279)cGg>cAg	p.R1093Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R1093Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1093									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGCAGTGCCCGGGCCCCCAAG	0.682																																						uc003inf.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(3277-3279)CGG>CAG		FH2 domain containing 1							18.0	23.0	21.0					4																	153897721		2201	4300	6501	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153897721G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3278G>A	4.37:g.153897721G>A	ENSP00000427567:p.Arg1093Gln						p.R1093Q	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			11	3353	+	all_hematologic(180;0.093)		1093						Missense_Mutation	SNP	ENST00000511601.1	37	c.3278G>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466604	0.43839	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.48836	0.8;0.8	5.76	5.76	0.90799	.	0.770624	0.12578	N	0.456653	T	0.43831	0.1265	L	0.32530	0.975	0.25734	N	0.985231	D	0.60160	0.987	P	0.45377	0.478	T	0.42548	-0.9445	10	0.72032	D	0.01	.	13.2052	0.59790	0.0726:0.0:0.9274:0.0	.	1093	Q9C0D6	FHDC1_HUMAN	Q	1093	ENSP00000427567:R1093Q;ENSP00000260008:R1093Q	ENSP00000260008:R1093Q	R	+	2	0	FHDC1	154117171	0.967000	0.33354	0.073000	0.20177	0.346000	0.29079	5.018000	0.64054	2.728000	0.93425	0.655000	0.94253	CGG		0.682	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		5	29	0	0	0	0	5	29				
CCDC125	202243	broad.mit.edu	37	5	68616363	68616363	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr5:68616363C>T	ENST00000396496.2	-	2	112	c.5G>A	c.(4-6)aGc>aAc	p.S2N	CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000383374.2_Missense_Mutation_p.S2N|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.S2N			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	2						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TGCCACCTTGCTCATGAGCCA	0.448																																						uc003jvv.1		NA																	0					0						c.(4-6)AGC>AAC		coiled-coil domain containing 125							85.0	81.0	83.0					5																	68616363		2203	4300	6503	SO:0001583	missense	202243					cytoplasm		g.chr5:68616363C>T	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.5G>A	5.37:g.68616363C>T	ENSP00000379754:p.Ser2Asn					CCDC125_uc003jvx.1_Missense_Mutation_p.S2N|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Missense_Mutation_p.S2N	p.S2N	NM_176816	NP_789786	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	1	48	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	2					Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.5G>A	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	c	13.95	2.388553	0.42308	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374	T;T;T	0.55588	0.56;0.56;0.51	4.92	4.05	0.47172	.	0.313848	0.30076	N	0.010462	T	0.67961	0.2949	M	0.70595	2.14	0.25130	N	0.990579	D;D	0.67145	0.996;0.996	D;D	0.78314	0.991;0.991	T	0.60084	-0.7332	10	0.87932	D	0	-4.0343	9.5415	0.39255	0.0:0.9011:0.0:0.0989	.	2;2	F8W912;Q86Z20	.;CC125_HUMAN	N	2	ENSP00000379754:S2N;ENSP00000379756:S2N;ENSP00000372865:S2N	ENSP00000372865:S2N	S	-	2	0	CCDC125	68652119	0.998000	0.40836	0.993000	0.49108	0.083000	0.17756	1.086000	0.30853	1.219000	0.43474	-0.389000	0.06534	AGC		0.448	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		13	60	0	0	0	0	13	60				
PCDHGC4	56098	broad.mit.edu	37	5	140866446	140866446	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr5:140866446G>A	ENST00000306593.1	+	1	1706	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	569					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R569L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGTCCTCGGGCCCGGCCT	0.572																																						uc003lky.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1705-1707)CGG>CAG		protocadherin gamma subfamily C, 4 isoform 1							76.0	74.0	75.0					5																	140866446		2203	4300	6503	SO:0001583	missense	56098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140866446G>A	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1706G>A	5.37:g.140866446G>A	ENSP00000306918:p.Arg569Gln					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_uc011dbb.1_Missense_Mutation_p.R569Q|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	p.R569Q	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1706	+			569			Extracellular (Potential).		Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.1706G>A	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	G	5.741	0.321164	0.10845	.	.	ENSG00000242419	ENST00000306593	T	0.63417	-0.04	5.57	3.76	0.43208	Cadherin-like (1);	.	.	.	.	T	0.35711	0.0941	N	0.05554	-0.025	0.09310	N	1	B;B	0.25772	0.134;0.011	B;B	0.18263	0.021;0.004	T	0.11743	-1.0575	9	0.13108	T	0.6	.	7.9926	0.30250	0.1286:0.1385:0.7329:0.0	.	569;569	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	Q	569	ENSP00000306918:R569Q	ENSP00000306918:R569Q	R	+	2	0	PCDHGC4	140846630	0.000000	0.05858	0.999000	0.59377	0.919000	0.55068	0.467000	0.22035	2.618000	0.88619	0.591000	0.81541	CGG		0.572	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		30	101	0	0	0	0	30	101				
PDGFRB	5159	broad.mit.edu	37	5	149516594	149516594	+	Missense_Mutation	SNP	G	G	A	rs150173975		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr5:149516594G>A	ENST00000261799.4	-	2	486	c.17C>T	c.(16-18)gCg>gTg	p.A6V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	6					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCTGGCATCGCACCCGGAAG	0.642			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								G|||	1	0.000199681	0.0	0.0	5008	,	,		17838	0.0		0.001	False		,,,				2504	0.0					uc003lro.2		NA		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(16-18)GCG>GTG		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	58.0	56.0	57.0		17	-0.5	0.0	5	dbSNP_134	57	5,8595	4.3+/-15.6	0,5,4295	yes	missense	PDGFRB	NM_002609.3	64	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	benign	6/1107	149516594	6,13000	2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149516594G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.17C>T	5.37:g.149516594G>A	ENSP00000261799:p.Ala6Val					PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Missense_Mutation_p.A6V	p.A6V	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	486	-		all_hematologic(541;0.224)	6					B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.17C>T	CCDS4303.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.179	-0.638714	0.03557	2.27E-4	5.81E-4	ENSG00000113721	ENST00000261799;ENST00000517957	T;T	0.75704	-0.96;2.22	4.04	-0.516	0.11950	.	1.132890	0.06800	N	0.788550	T	0.48314	0.1493	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.34428	-0.9829	10	0.05833	T	0.94	.	7.3243	0.26547	0.7217:0.0:0.2783:0.0	.	6;6	B5A957;P09619	.;PGFRB_HUMAN	V	6	ENSP00000261799:A6V;ENSP00000430715:A6V	ENSP00000261799:A6V	A	-	2	0	PDGFRB	149496787	0.000000	0.05858	0.004000	0.12327	0.681000	0.39784	-0.678000	0.05209	-0.100000	0.12241	-1.111000	0.02071	GCG		0.642	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		11	45	0	0	0	0	11	45				
C6orf106	64771	broad.mit.edu	37	6	34614452	34614452	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:34614452A>C	ENST00000374023.3	-	3	680	c.437T>G	c.(436-438)aTg>aGg	p.M146R	C6orf106_ENST00000374026.3_Intron|C6orf106_ENST00000374021.1_Missense_Mutation_p.M72R	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	146										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						GGGGCTGCACATCTGGACGCT	0.522																																						uc003ojr.2		NA																	0				skin(2)|ovary(1)	3						c.(436-438)ATG>AGG		chromosome 6 open reading frame 106 isoform a							184.0	166.0	172.0					6																	34614452		2203	4300	6503	SO:0001583	missense	64771							g.chr6:34614452A>C	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.437T>G	6.37:g.34614452A>C	ENSP00000363135:p.Met146Arg					C6orf106_uc003ojs.2_Intron	p.M146R	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN			3	682	-			146					B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	ENST00000374023.3	37	c.437T>G	CCDS4796.1	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626174	0.66901	.	.	ENSG00000196821	ENST00000374023;ENST00000374021	.	.	.	5.35	5.35	0.76521	.	0.045590	0.85682	D	0.000000	T	0.61590	0.2359	M	0.84082	2.675	0.80722	D	1	B	0.28178	0.202	B	0.28991	0.097	T	0.69202	-0.5207	9	0.87932	D	0	-4.171	15.3722	0.74573	1.0:0.0:0.0:0.0	.	146	Q9H6K1	CF106_HUMAN	R	146;72	.	ENSP00000363133:M72R	M	-	2	0	C6orf106	34722430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.027000	0.59764	0.460000	0.39030	ATG		0.522	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758		18	234	0	0	0	0	18	234				
FGD2	221472	broad.mit.edu	37	6	36989314	36989314	+	Silent	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:36989314C>T	ENST00000274963.8	+	12	1431	c.1260C>T	c.(1258-1260)atC>atT	p.I420I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	420					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|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)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TTGACCAAATCGAGAAGCGGA	0.597											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010jwp.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|pancreas(1)	3						c.(1258-1260)ATC>ATT		FYVE, RhoGEF and PH domain containing 2							54.0	48.0	50.0					6																	36989314		2203	4300	6503	SO:0001819	synonymous_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36989314C>T	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1260C>T	6.37:g.36989314C>T			OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	867	FGD2_uc003ong.2_Silent_p.I142I|FGD2_uc011dtv.1_Silent_p.I48I|FGD2_uc003onj.1_5'Flank	p.I420I	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN			12	1431	+			420					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.1260C>T	CCDS4829.1																																																																																				0.597	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		7	26	0	0	0	0	7	26				
LRFN2	57497	broad.mit.edu	37	6	40360623	40360623	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:40360623C>T	ENST00000338305.6	-	3	1971	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	477	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTGTTGACCACGAAGGCCTTG	0.597																																						uc003oph.1		NA																	0				ovary(2)|skin(1)	3						c.(1429-1431)GTG>ATG		leucine rich repeat and fibronectin type III							43.0	45.0	44.0					6																	40360623		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360623C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1429G>A	6.37:g.40360623C>T	ENSP00000345985:p.Val477Met						p.V477M	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			3	1894	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		477			Fibronectin type-III.|Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1429G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	c	16.24	3.066261	0.55539	.	.	ENSG00000156564	ENST00000338305	T	0.57595	0.39	5.29	4.41	0.53225	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.186140	0.46145	D	0.000318	T	0.40670	0.1126	L	0.47716	1.5	0.45403	D	0.998387	P	0.51057	0.941	P	0.48901	0.594	T	0.26395	-1.0104	10	0.35671	T	0.21	.	14.1131	0.65134	0.1512:0.8488:0.0:0.0	.	477	Q9ULH4	LRFN2_HUMAN	M	477	ENSP00000345985:V477M	ENSP00000345985:V477M	V	-	1	0	LRFN2	40468601	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.631000	0.24568	1.191000	0.43056	0.651000	0.88453	GTG		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		3	34	0	0	0	0	3	34				
SYNE1	23345	broad.mit.edu	37	6	152832220	152832220	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:152832220T>A	ENST00000367255.5	-	7	929	c.328A>T	c.(328-330)Aac>Tac	p.N110Y	SYNE1_ENST00000341594.5_Missense_Mutation_p.N110Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.N110Y|SYNE1_ENST00000466159.2_Missense_Mutation_p.N110Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.N117Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.N117Y|SYNE1_ENST00000367253.4_Missense_Mutation_p.N110Y|SYNE1_ENST00000413186.2_Missense_Mutation_p.N110Y|SYNE1_ENST00000367248.3_Missense_Mutation_p.N117Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	110	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCGGTGGAGTTAATGTTGACT	0.328										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(328-330)AAC>TAC		spectrin repeat containing, nuclear envelope 1							135.0	139.0	138.0					6																	152832220		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152832220T>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.328A>T	6.37:g.152832220T>A	ENSP00000356224:p.Asn110Tyr	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.N117Y|SYNE1_uc003qou.3_Missense_Mutation_p.N110Y|SYNE1_uc010kjb.1_Missense_Mutation_p.N110Y|SYNE1_uc003qpa.1_Missense_Mutation_p.N110Y	p.N110Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	7	930	-		Ovarian(120;0.0955)	110			Actin-binding.|Cytoplasmic (Potential).|CH 1.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.328A>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	18.61	3.661378	0.67700	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	5.65	5.65	0.86999	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.64402	D	0.000007	D	0.96876	0.8980	M	0.69185	2.1	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.995;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.988;0.909;0.988;0.984	D	0.97572	1.0105	10	0.66056	D	0.02	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	110;110;110;110;117	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	Y	110;117;110;117;110;110;117;110;110;110	ENSP00000356224:N110Y;ENSP00000396024:N117Y;ENSP00000265368:N110Y;ENSP00000390975:N117Y;ENSP00000341887:N110Y;ENSP00000356222:N110Y;ENSP00000356217:N117Y;ENSP00000414510:N110Y;ENSP00000446021:N110Y;ENSP00000441264:N110Y	ENSP00000265368:N110Y	N	-	1	0	SYNE1	152873913	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.124000	0.57924	2.150000	0.67090	0.519000	0.50382	AAC		0.328	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		32	109	0	0	0	0	32	109				
RAPGEF5	9771	broad.mit.edu	37	7	22190076	22190076	+	Silent	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:22190076G>C	ENST00000401957.2	-	8	1171	c.924C>G	c.(922-924)ctC>ctG	p.L308L	RAPGEF5_ENST00000344041.6_Silent_p.L458L			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	308					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAGATGCCTCGAGGGATTTGG	0.403																																						uc003svg.2		NA																	0				ovary(1)	1						c.(1372-1374)CTC>CTG		Rap guanine nucleotide exchange factor (GEF) 5							132.0	129.0	130.0					7																	22190076		1854	4088	5942	SO:0001819	synonymous_variant	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22190076G>C	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.924C>G	7.37:g.22190076G>C						RAPGEF5_uc011jyl.1_Silent_p.L139L	p.L458L	NM_012294	NP_036426	Q92565	RPGF5_HUMAN			18	1687	-			308					A4D140|Q8IXU5	Silent	SNP	ENST00000401957.2	37	c.1374C>G																																																																																					0.403	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		10	121	0	0	0	0	10	121				
OGDH	4967	broad.mit.edu	37	7	44684960	44684960	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:44684960G>C	ENST00000222673.5	+	3	299	c.257G>C	c.(256-258)gGa>gCa	p.G86A	OGDH_ENST00000449767.1_Missense_Mutation_p.G86A|OGDH_ENST00000444676.1_Missense_Mutation_p.G86A|OGDH_ENST00000443864.2_Missense_Mutation_p.G86A|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Missense_Mutation_p.G26A|OGDH_ENST00000447398.1_Missense_Mutation_p.G86A	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	86					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ACGAATGCCGGAGCCCCACCG	0.582																																						uc003tln.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(256-258)GGA>GCA		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						128.0	127.0	127.0					7																	44684960		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44684960G>C	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.257G>C	7.37:g.44684960G>C	ENSP00000222673:p.Gly86Ala					OGDH_uc003tlm.2_Missense_Mutation_p.G86A|OGDH_uc011kbx.1_Missense_Mutation_p.G86A|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Missense_Mutation_p.G86A|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	p.G86A	NM_002541	NP_002532	Q02218	ODO1_HUMAN			3	366	+			86					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.257G>C	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.744910	0.69418	.	.	ENSG00000105953	ENST00000443864;ENST00000449767;ENST00000447398;ENST00000419661;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	L	0.56199	1.76	0.80722	D	1	B;B;B;D	0.56968	0.312;0.312;0.312;0.978	B;B;B;P	0.56612	0.21;0.21;0.21;0.802	T	0.49143	-0.8970	10	0.38643	T	0.18	-14.352	19.6888	0.95989	0.0:0.0:1.0:0.0	.	86;86;86;86	E9PBM1;E9PDF2;Q02218;Q96DD3	.;.;ODO1_HUMAN;.	A	86;86;86;86;86;86;26	ENSP00000388084:G86A;ENSP00000392878:G86A;ENSP00000388183:G86A;ENSP00000411830:G86A;ENSP00000414662:G86A;ENSP00000222673:G86A;ENSP00000443821:G26A	ENSP00000222673:G86A	G	+	2	0	OGDH	44651485	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	9.476000	0.97823	2.736000	0.93811	0.655000	0.94253	GGA		0.582	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			21	162	0	0	0	0	21	162				
MYO1G	64005	broad.mit.edu	37	7	45010561	45010561	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:45010561G>A	ENST00000258787.7	-	8	1080	c.944C>T	c.(943-945)aCg>aTg	p.T315M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	315	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGGTGTGGCCGTCAGCTCAGC	0.657																																						uc003tmh.2		NA																	0				breast(2)|ovary(1)|pancreas(1)	4						c.(943-945)ACG>ATG		myosin IG							60.0	49.0	53.0					7																	45010561		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45010561G>A	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.944C>T	7.37:g.45010561G>A	ENSP00000258787:p.Thr315Met					MYO1G_uc003tmf.2_5'Flank|MYO1G_uc003tmg.2_Missense_Mutation_p.T77M|MYO1G_uc010kym.2_Missense_Mutation_p.T200M|MYO1G_uc003tmi.1_Missense_Mutation_p.T227M|MYO1G_uc003tmj.2_Missense_Mutation_p.T77M	p.T315M	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			8	1088	-			315			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.944C>T	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366403	0.61513	.	.	ENSG00000136286	ENST00000258787	D	0.86366	-2.11	5.3	4.43	0.53597	Myosin head, motor domain (2);	0.000000	0.41938	D	0.000787	T	0.67373	0.2886	N	0.02412	-0.56	0.39604	D	0.969779	P;P	0.43412	0.8;0.806	B;B	0.36766	0.209;0.232	T	0.74028	-0.3796	10	0.72032	D	0.01	.	8.4286	0.32744	0.1776:0.0:0.8224:0.0	.	315;315	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	M	315	ENSP00000258787:T315M	ENSP00000258787:T315M	T	-	2	0	MYO1G	44977086	1.000000	0.71417	0.879000	0.34478	0.924000	0.55760	3.481000	0.53179	1.384000	0.46424	0.655000	0.94253	ACG		0.657	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2			9	36	0	0	0	0	9	36				
PEX1	5189	broad.mit.edu	37	7	92146635	92146635	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:92146635G>C	ENST00000248633.4	-	5	1289	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.I398M|PEX1_ENST00000541751.1_De_novo_Start_OutOfFrame	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	398					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGGTATATTTGATGGCATTGT	0.343																																						uc003uly.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1192-1194)ATC>ATG		peroxin1							135.0	136.0	136.0					7																	92146635		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146635G>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1194C>G	7.37:g.92146635G>C	ENSP00000248633:p.Ile398Met					PEX1_uc011khr.1_Missense_Mutation_p.I190M|PEX1_uc010ley.2_Missense_Mutation_p.I398M|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	p.I398M	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1290	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	398					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1194C>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	3.987	-0.005257	0.07773	.	.	ENSG00000127980	ENST00000248633;ENST00000428214;ENST00000545192	D;D	0.94537	-3.41;-3.45	5.94	-2.71	0.05986	.	0.645754	0.16832	N	0.197722	D	0.88908	0.6565	L	0.53249	1.67	0.09310	N	0.999996	B;B	0.10296	0.003;0.003	B;B	0.13407	0.009;0.009	T	0.78548	-0.2162	10	0.66056	D	0.02	-0.0273	2.0019	0.03469	0.1112:0.1889:0.324:0.376	.	190;398	B4DER6;O43933	.;PEX1_HUMAN	M	398	ENSP00000248633:I398M;ENSP00000394413:I398M	ENSP00000248633:I398M	I	-	3	3	PEX1	91984571	0.000000	0.05858	0.027000	0.17364	0.241000	0.25554	-0.553000	0.06012	-0.405000	0.07599	-0.410000	0.06199	ATC		0.343	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		22	110	0	0	0	0	22	110				
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:164038C>G	ENST00000356521.4	-	5	519		c.e5-1		CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000377447.3_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding (GO:0005524)	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284																																						uc003zga.3		NA																	2	Unknown(2)		lung(2)	ovary(1)	1						c.e5-1		COBW domain containing 1 isoform 1							44.0	70.0	61.0					9																	164038		1423	2635	4058	SO:0001630	splice_region_variant	55871						ATP binding|protein binding	g.chr9:164038C>G	AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.431-1G>C	9.37:g.164038C>G						CBWD1_uc010mgs.2_Splice_Site|CBWD1_uc003zgb.3_Splice_Site_p.G108_splice|CBWD1_uc003zgc.3_Splice_Site_p.G144_splice|CBWD1_uc011llr.1_Splice_Site_p.G108_splice	p.G144_splice	NM_018491	NP_060961	Q9BRT8	CBWD1_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	5	537	-	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)						A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Splice_Site	SNP	ENST00000356521.4	37	c.431_splice	CCDS6438.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304448	0.60305	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6706	0.77270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD1	154038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.833000	0.75334	2.049000	0.60858	0.549000	0.68633	.		0.284	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051463.1	NM_018491	Intron	3	55	0	0	0	0	3	55				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|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 cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L	p.R58*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	384	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		12	7	0	0	0	0	12	7				
CHMP5	51510	broad.mit.edu	37	9	33276501	33276501	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:33276501C>G	ENST00000223500.8	+	6	572	c.435C>G	c.(433-435)atC>atG	p.I145M	CHMP5_ENST00000419016.2_Missense_Mutation_p.I145M	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	145	Interaction with VTA1.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			CAAATGAAATCCAAGAAGCAC	0.358																																						uc003zsl.3		NA																	0				ovary(1)	1						c.(433-435)ATC>ATG		chromatin modifying protein 5							92.0	95.0	94.0					9																	33276501		2203	4300	6503	SO:0001583	missense	51510				cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding	g.chr9:33276501C>G	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765	ENST00000223500.8:c.435C>G	9.37:g.33276501C>G	ENSP00000223500:p.Ile145Met					SUGT1P1_uc010mjq.1_Intron|CHMP5_uc003zsm.3_Missense_Mutation_p.I145M|CHMP5_uc011lnv.1_Missense_Mutation_p.I145M	p.I145M	NM_016410	NP_057494	Q9NZZ3	CHMP5_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		7	790	+			145			Potential.|Interaction with VTA1.		B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	c.435C>G	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310757	0.40895	.	.	ENSG00000086065	ENST00000223500;ENST00000419016	T;T	0.78481	-1.18;-1.18	5.54	1.66	0.24008	.	0.151709	0.64402	D	0.000015	D	0.83308	0.5226	H	0.94542	3.55	0.38094	D	0.937054	B;B	0.29552	0.248;0.108	B;B	0.38842	0.249;0.283	T	0.82147	-0.0601	10	0.87932	D	0	-12.0042	7.0456	0.25044	0.0:0.5657:0.0:0.4343	.	145;145	B4DIR6;Q9NZZ3	.;CHMP5_HUMAN	M	145	ENSP00000223500:I145M;ENSP00000442725:I145M	ENSP00000223500:I145M	I	+	3	3	CHMP5	33266501	0.969000	0.33509	1.000000	0.80357	0.998000	0.95712	0.161000	0.16481	0.399000	0.25367	0.655000	0.94253	ATC		0.358	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		10	68	0	0	0	0	10	68				
UNC13B	10497	broad.mit.edu	37	9	35389842	35389842	+	Splice_Site	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:35389842G>C	ENST00000378495.3	+	24	3069		c.e24-1		UNC13B_ENST00000378496.4_Splice_Site|UNC13B_ENST00000396787.1_Splice_Site	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)						apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TCTGGATCAAGAAGCAGGAGC	0.498																																						uc003zwq.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.e24-1		UNC13 (C. elegans)-like							87.0	89.0	88.0					9																	35389842		2203	4300	6503	SO:0001630	splice_region_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35389842G>C	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2848-1G>C	9.37:g.35389842G>C						UNC13B_uc003zwr.2_Splice_Site_p.K950_splice	p.K950_splice	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		24	3140	+	all_epithelial(49;0.212)							Q5VYM8	Splice_Site	SNP	ENST00000378495.3	37	c.2848_splice	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338531	0.41398	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.39	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1826	0.31319	0.2187:0.0:0.7813:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC13B	35379842	0.999000	0.42202	1.000000	0.80357	0.588000	0.36517	0.382000	0.20635	2.677000	0.91161	0.655000	0.94253	.		0.498	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	Intron	18	196	0	0	0	0	18	196				
TLN1	7094	broad.mit.edu	37	9	35724572	35724572	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:35724572C>G	ENST00000314888.9	-	5	861	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	TLN1_ENST00000540444.1_Missense_Mutation_p.E170Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	170	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				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)			TGCTTACACTCATCATCTGTG	0.448																																						uc003zxt.2		NA																	0				lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13						c.(508-510)GAG>CAG		talin 1							317.0	299.0	305.0					9																	35724572		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.chr9:35724572C>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.508G>C	9.37:g.35724572C>G	ENSP00000316029:p.Glu170Gln					TLN1_uc003zxu.3_Missense_Mutation_p.E170Q	p.E170Q	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)		5	862	-	all_epithelial(49;0.167)		170			FERM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.508G>C	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608605	0.87258	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.69806	-0.41;-0.43	5.93	5.93	0.95920	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.048934	0.85682	D	0.000000	D	0.83848	0.5343	M	0.83603	2.65	0.80722	D	1	D;P	0.71674	0.998;0.889	D;P	0.68943	0.961;0.68	D	0.84668	0.0710	10	0.66056	D	0.02	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	170;170	Q5TCU5;Q9Y490	.;TLN1_HUMAN	Q	170	ENSP00000316029:E170Q;ENSP00000442981:E170Q	ENSP00000316029:E170Q	E	-	1	0	TLN1	35714572	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.694000	0.84235	2.814000	0.96858	0.655000	0.94253	GAG		0.448	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		244	170	0	0	0	0	244	170				
ANXA1	301	broad.mit.edu	37	9	75775272	75775272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:75775272G>T	ENST00000376911.1	+	4	1246	c.364G>T	c.(364-366)Gaa>Taa	p.E122*	ANXA1_ENST00000257497.6_Nonsense_Mutation_p.E122*			P04083	ANXA1_HUMAN	annexin A1	122					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	TGATGCTGATGAACTTCGTGC	0.428																																						uc004ajf.1		NA																	0				breast(1)|central_nervous_system(1)	2						c.(364-366)GAA>TAA		annexin I	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						101.0	99.0	100.0					9																	75775272		2203	4300	6503	SO:0001587	stop_gained	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75775272G>T	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.364G>T	9.37:g.75775272G>T	ENSP00000366109:p.Glu122*					ANXA1_uc004aje.1_Nonsense_Mutation_p.E122*|ANXA1_uc004ajg.1_Nonsense_Mutation_p.E122*	p.E122*	NM_000700	NP_000691	P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	5	438	+		all_epithelial(88;2.54e-11)	122						Nonsense_Mutation	SNP	ENST00000376911.1	37	c.364G>T	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	G	44	11.099198	0.99515	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	.	.	.	5.92	3.98	0.46160	.	0.140854	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.3819	0.60773	0.0685:0.122:0.8095:0.0	.	.	.	.	X	122;133;122	.	ENSP00000257497:E122X	E	+	1	0	ANXA1	74965092	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.349000	0.44054	1.504000	0.48704	0.650000	0.86243	GAA		0.428	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700		14	114	1	0	7.93e-07	9.73e-07	14	114				
BAAT	570	broad.mit.edu	37	9	104130542	104130542	+	Missense_Mutation	SNP	G	G	A	rs200347226		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:104130542G>A	ENST00000395051.3	-	2	599	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	BAAT_ENST00000259407.2_Missense_Mutation_p.R177W			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	177					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AGGCTGGCCCGAAATTCAAGC	0.478																																						uc010mtd.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(529-531)CGG>TGG		bile acid Coenzyme A: amino acid	Glycine(DB00145)						57.0	55.0	56.0					9																	104130542		2203	4300	6503	SO:0001583	missense	570				acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity	g.chr9:104130542G>A	L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"""glycine N-choloyltransferase"""	602938	"""bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)"", ""bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"""				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.529C>T	9.37:g.104130542G>A	ENSP00000378491:p.Arg177Trp					BAAT_uc004bbd.3_Missense_Mutation_p.R177W	p.R177W	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN			3	638	-		Acute lymphoblastic leukemia(62;0.0559)	177					Q3B7W9|Q96L31	Missense_Mutation	SNP	ENST00000395051.3	37	c.529C>T	CCDS6752.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436675	0.43224	.	.	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.48522	0.81;0.81	4.47	3.56	0.40772	.	0.000000	0.53938	D	0.000059	T	0.72518	0.3470	M	0.91406	3.205	0.42364	D	0.992427	D	0.89917	1.0	D	0.91635	0.999	T	0.78283	-0.2264	10	0.87932	D	0	-20.9138	11.3856	0.49782	0.0:0.0:0.818:0.182	.	177	Q14032	BAAT_HUMAN	W	177	ENSP00000259407:R177W;ENSP00000378491:R177W	ENSP00000259407:R177W	R	-	1	2	BAAT	103170363	0.336000	0.24757	0.154000	0.22540	0.234000	0.25298	0.941000	0.29005	1.067000	0.40740	0.561000	0.74099	CGG		0.478	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053433.1			7	42	0	0	0	0	7	42				
ABCA1	19	broad.mit.edu	37	9	107591238	107591238	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:107591238G>T	ENST00000374736.3	-	15	2468	c.2074C>A	c.(2074-2076)Cct>Act	p.P692T	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	692					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACAAGAAGAGGAATGAGGCTA	0.542																																						uc004bcl.2		NA																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(2074-2076)CCT>ACT		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						115.0	92.0	100.0					9																	107591238		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107591238G>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2074C>A	9.37:g.107591238G>T	ENSP00000363868:p.Pro692Thr						p.P692T	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	15	2387	-			692			Helical; (Potential).		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.2074C>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181277	0.78677	.	.	ENSG00000165029	ENST00000374736	D	0.82984	-1.67	6.02	6.02	0.97574	.	0.047579	0.85682	N	0.000000	D	0.88945	0.6575	L	0.54863	1.705	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	D	0.84084	0.0386	10	0.19590	T	0.45	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	692	O95477	ABCA1_HUMAN	T	692	ENSP00000363868:P692T	ENSP00000363868:P692T	P	-	1	0	ABCA1	106631059	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.903000	0.87398	2.865000	0.98341	0.655000	0.94253	CCT		0.542	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		10	45	1	0	1.09e-07	1.34e-07	10	45				
OR1B1	347169	broad.mit.edu	37	9	125391138	125391138	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr9:125391138C>G	ENST00000304833.3	-	1	714	c.677G>C	c.(676-678)cGa>cCa	p.R226P	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GGCCCCAATTCGGACATAAGA	0.542																																						uc011lyz.1		NA																	0					0						c.(676-678)CGA>CCA		olfactory receptor, family 1, subfamily B,							65.0	65.0	65.0					9																	125391138		2203	4300	6503	SO:0001583	missense	347169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125391138C>G	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.677G>C	9.37:g.125391138C>G	ENSP00000303151:p.Arg226Pro						p.R226P	NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN			1	677	-			226			Cytoplasmic (Potential).		Q6IFN3	Missense_Mutation	SNP	ENST00000304833.3	37	c.677G>C	CCDS35126.1	.	.	.	.	.	.	.	.	.	.	c	9.561	1.118509	0.20877	.	.	ENSG00000171484	ENST00000304833	T	0.00123	8.7	4.61	-0.52	0.11935	GPCR, rhodopsin-like superfamily (1);	0.167504	0.28349	N	0.015672	T	0.00210	0.0006	L	0.43598	1.365	0.09310	N	1	P	0.41978	0.767	P	0.54889	0.763	T	0.45571	-0.9252	10	0.66056	D	0.02	-1.3283	3.9388	0.09318	0.2561:0.4467:0.0:0.2971	.	226	Q8NGR6	OR1B1_HUMAN	P	226	ENSP00000303151:R226P	ENSP00000303151:R226P	R	-	2	0	OR1B1	124430959	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.351000	0.02622	-0.194000	0.10399	-0.148000	0.13756	CGA		0.542	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		5	79	0	0	0	0	5	79				
FAM47B	170062	broad.mit.edu	37	X	34961479	34961479	+	Silent	SNP	C	C	T	rs149160457		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:34961479C>T	ENST00000329357.5	+	1	567	c.531C>T	c.(529-531)acC>acT	p.T177T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	177										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGGTACCCACCGAGTCTGGTA	0.612																																						uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(529-531)ACC>ACT		hypothetical protein LOC170062		C		1,3832		0,1,1630,571	31.0	31.0	31.0		531	-1.7	0.0	X	dbSNP_134	31	0,6728		0,0,2428,1872	no	coding-synonymous	FAM47B	NM_152631.2		0,1,4058,2443	TT,TC,CC,C		0.0,0.0261,0.0095		177/646	34961479	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34961479C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.531C>T	X.37:g.34961479C>T							p.T177T	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	549	+			177					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.531C>T	CCDS14236.1																																																																																				0.612	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		11	22	0	0	0	0	11	22				
MAOA	4128	broad.mit.edu	37	X	43601196	43601196	+	Splice_Site	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:43601196G>C	ENST00000338702.3	+	12	1287		c.e12-1		MAOA_ENST00000542639.1_Splice_Site	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A						cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	CTGAACTGCAGCCAGTGCATT	0.423																																						uc004dfy.2		NA																	0				breast(2)|ovary(1)	3						c.e12-1		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						83.0	70.0	74.0					X																	43601196		2203	4300	6503	SO:0001630	splice_region_variant	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43601196G>C		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.1165-1G>C	X.37:g.43601196G>C						MAOA_uc011mkw.1_Splice_Site_p.P256_splice	p.P389_splice	NM_000240	NP_000231	P21397	AOFA_HUMAN			12	1346	+								B4DF46|Q16426	Splice_Site	SNP	ENST00000338702.3	37	c.1165_splice	CCDS14260.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.955131	0.34471	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	.	.	.	5.74	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0999	0.65049	0.074:0.0:0.926:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAOA	43486140	1.000000	0.71417	0.994000	0.49952	0.157000	0.22087	8.976000	0.93442	1.195000	0.43115	0.529000	0.55759	.		0.423	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240	Intron	5	17	0	0	0	0	5	17				
PRAF2	11230	broad.mit.edu	37	X	48931479	48931479	+	Silent	SNP	G	G	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:48931479G>A	ENST00000376390.4	-	1	251	c.168C>T	c.(166-168)ctC>ctT	p.L56L	PRAF2_ENST00000376386.3_Silent_p.L56L|WDR45_ENST00000553851.1_Intron|AF196779.12_ENST00000376358.3_Intron|PRAF2_ENST00000491199.1_5'UTR	NM_007213.1	NP_009144.1	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	56			L -> F (in dbSNP:rs34565429).		L-glutamate transport (GO:0015813)|protein transport (GO:0015031)	endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.L56L(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						CGGCGAGAGCGAGGCCGATGC	0.647																																						uc004dmi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)CTC>CTT		PRA1 domain family, member 2							66.0	57.0	60.0					X																	48931479		2203	4300	6503	SO:0001819	synonymous_variant	11230				L-glutamate transport|protein transport	endosome membrane|integral to membrane		g.chrX:48931479G>A	BC021213	CCDS14317.1	Xp11.23	2008-02-05	2004-11-15		ENSG00000243279	ENSG00000243279			28911	protein-coding gene	gene with protein product		300840	"""PRA1 domain family 2"""			16481131	Standard	NM_007213		Approved	JM4		O60831	OTTHUMG00000034499	ENST00000376390.4:c.168C>T	X.37:g.48931479G>A						PRAF2_uc004dmh.2_5'Flank|PRAF2_uc011mmt.1_Intron	p.L56L	NM_007213	NP_009144	O60831	PRAF2_HUMAN			1	184	-			56			Helical; (Potential).		B2RD20	Silent	SNP	ENST00000376390.4	37	c.168C>T	CCDS14317.1																																																																																				0.647	PRAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083415.2	NM_007213		19	24	0	0	0	0	19	24				
GLRA4	441509	broad.mit.edu	37	X	102979135	102979135	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:102979135G>T	ENST00000372617.4	-	4	785	c.365C>A	c.(364-366)tCc>tAc	p.S122Y	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	122						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTCCAGCATGGAGGGATCGAG	0.527																																						uc011mse.1		NA																	0					0						c.(364-366)TCC>TAC		glycine receptor, alpha 4 precursor							137.0	137.0	137.0					X																	102979135		2144	4281	6425	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102979135G>T	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.365C>A	X.37:g.102979135G>T	ENSP00000361700:p.Ser122Tyr					GLRA4_uc010nou.2_Missense_Mutation_p.S122Y	p.S122Y	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			4	786	-			122			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000372617.4	37	c.365C>A	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949296	0.73787	.	.	ENSG00000188828	ENST00000372617	T	0.80214	-1.35	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.82412	0.5031	M	0.65975	2.015	0.58432	D	0.999999	P;B	0.47762	0.9;0.367	P;B	0.46419	0.516;0.209	D	0.84976	0.0885	10	0.66056	D	0.02	.	15.022	0.71637	0.0:0.0:1.0:0.0	.	122;81	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	Y	122	ENSP00000361700:S122Y	ENSP00000361700:S122Y	S	-	2	0	GLRA4	102865791	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	9.869000	0.99810	2.132000	0.65825	0.513000	0.50165	TCC		0.527	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		49	53	1	0	1.02e-35	1.32e-35	49	53				
IGSF1	3547	broad.mit.edu	37	X	130409171	130409171	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:130409171G>C	ENST00000361420.3	-	17	3353	c.3274C>G	c.(3274-3276)Cca>Gca	p.P1092A	IGSF1_ENST00000370903.3_Missense_Mutation_p.P1097A|IGSF1_ENST00000370910.1_Missense_Mutation_p.P1083A|IGSF1_ENST00000370904.1_Missense_Mutation_p.P1083A|IGSF1_ENST00000467244.1_5'Flank			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1092	Ig-like C2-type 11.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTTGAGTCTGGCAGTTCCCCT	0.547																																						uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3274-3276)CCA>GCA		immunoglobulin superfamily, member 1 isoform 1							129.0	130.0	129.0					X																	130409171		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409171G>C	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3274C>G	X.37:g.130409171G>C	ENSP00000355010:p.Pro1092Ala					IGSF1_uc004ewe.3_Missense_Mutation_p.P1086A|IGSF1_uc004ewf.2_Missense_Mutation_p.P1072A	p.P1092A	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			17	3512	-			1092			Extracellular (Potential).|Ig-like C2-type 11.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3274C>G	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.773824	0.00080	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.03065	4.06;4.06;4.06;4.06	4.83	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.542478	0.18165	N	0.149660	T	0.05777	0.0151	L	0.28504	0.86	0.34066	D	0.657834	B;D;B	0.54397	0.0;0.966;0.001	B;P;B	0.59357	0.002;0.856;0.008	T	0.30880	-0.9963	10	0.09843	T	0.71	.	7.1325	0.25510	0.1194:0.0:0.8806:0.0	.	1083;536;1092	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	A	1083;1092;1083;1097	ENSP00000359947:P1083A;ENSP00000355010:P1092A;ENSP00000359941:P1083A;ENSP00000359940:P1097A	ENSP00000355010:P1092A	P	-	1	0	IGSF1	130236852	0.999000	0.42202	0.959000	0.39883	0.018000	0.09664	2.745000	0.47459	2.376000	0.81061	0.594000	0.82650	CCA		0.547	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			7	132	0	0	0	0	7	132				
ARHGAP4	393	broad.mit.edu	37	X	153175297	153175297	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:153175297T>C	ENST00000350060.5	-	19	2353	c.2312A>G	c.(2311-2313)gAc>gGc	p.D771G	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.D811G|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.D593G|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.D750G|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.D748G	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	771	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)					CCGCAGTACGTCCCCCCGCCG	0.701																																						uc004fjk.1		NA																	0				central_nervous_system(1)	1						c.(2311-2313)GAC>GGC		Rho GTPase activating protein 4 isoform 2							12.0	14.0	13.0					X																	153175297		2186	4275	6461	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:153175297T>C	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.2312A>G	X.37:g.153175297T>C	ENSP00000203786:p.Asp771Gly					ARHGAP4_uc004fjj.1_Missense_Mutation_p.D122G|ARHGAP4_uc011mzf.1_Missense_Mutation_p.D748G|ARHGAP4_uc004fjl.1_Missense_Mutation_p.D811G|ARHGAP4_uc010nup.1_RNA	p.D771G	NM_001666	NP_001657	P98171	RHG04_HUMAN			19	2354	-	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)		771			SH3.		Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.2312A>G	CCDS14736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.616|6.616	0.482084|0.482084	0.12581|0.12581	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000454164;ENST00000442172	T;T;T;T;T|.	0.65549|.	-0.16;-0.16;-0.16;-0.16;-0.16|.	4.44|4.44	3.23|3.23	0.37069|0.37069	Src homology-3 domain (4);|.	0.000000|.	0.34853|.	N|.	0.003628|.	T|T	0.78027|0.78027	0.4219|0.4219	H|H	0.98068|0.98068	4.14|4.14	0.25326|0.25326	N|N	0.989076|0.989076	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.81914|.	0.995;0.995|.	T|T	0.70274|0.70274	-0.4917|-0.4917	10|5	0.13853|.	T|.	0.58|.	.|.	8.5524|8.5524	0.33460|0.33460	0.0:0.0:0.1934:0.8066|0.0:0.0:0.1934:0.8066	.|.	811;771|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	G|A	593;811;771;750;748|193;260	ENSP00000377322:D593G;ENSP00000359045:D811G;ENSP00000203786:D771G;ENSP00000359033:D750G;ENSP00000444169:D748G|.	ENSP00000203786:D771G|.	D|T	-|-	2|1	0|0	ARHGAP4|ARHGAP4	152828491|152828491	0.901000|0.901000	0.30685|0.30685	0.080000|0.080000	0.20451|0.20451	0.033000|0.033000	0.12548|0.12548	1.364000|1.364000	0.34171|0.34171	0.406000|0.406000	0.25560|0.25560	0.427000|0.427000	0.28365|0.28365	GAC|ACG		0.701	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		2	3	0	0	0	0	2	3				
IRAK1	3654	broad.mit.edu	37	X	153284101	153284101	+	Silent	SNP	C	C	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:153284101C>A	ENST00000369980.3	-	5	845	c.678G>T	c.(676-678)gtG>gtT	p.V226V	MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000393687.2_Silent_p.V226V|IRAK1_ENST00000429936.2_Silent_p.V252V|IRAK1_ENST00000369974.2_Silent_p.V226V|IRAK1_ENST00000393682.1_Silent_p.V252V	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|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 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCCCGGTACACGCACCCAA	0.612																																						uc004fjs.1		NA																	0				lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9						c.(676-678)GTG>GTT		interleukin-1 receptor-associated kinase 1							165.0	139.0	148.0					X																	153284101		2203	4300	6503	SO:0001819	synonymous_variant	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153284101C>A	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.678G>T	X.37:g.153284101C>A						IRAK1_uc004fjr.1_Silent_p.V226V|IRAK1_uc004fjt.1_Silent_p.V226V|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Silent_p.V252V	p.V226V	NM_001569	NP_001560	P51617	IRAK1_HUMAN			5	757	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		226			ATP (By similarity).|Protein kinase.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Silent	SNP	ENST00000369980.3	37	c.678G>T	CCDS14740.1																																																																																				0.612	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			51	70	1	0	1.66e-12	2.09e-12	51	70				
EMD	2010	broad.mit.edu	37	X	153608360	153608360	+	Silent	SNP	T	T	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chrX:153608360T>A	ENST00000369842.4	+	3	534	c.246T>A	c.(244-246)gcT>gcA	p.A82A	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Silent_p.A47A	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	82	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					AAGAGGACGCTTTACTCTACC	0.557																																						uc004fkl.2		NA																	0					0						c.(244-246)GCT>GCA		emerin							137.0	141.0	139.0					X																	153608360		2203	4300	6503	SO:0001819	synonymous_variant	2010				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding	g.chrX:153608360T>A	X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.246T>A	X.37:g.153608360T>A							p.A82A	NM_000117	NP_000108	P50402	EMD_HUMAN			3	494	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		82			Interaction with F-actin (Probable).		Q6FI02	Silent	SNP	ENST00000369842.4	37	c.246T>A	CCDS14745.1																																																																																				0.557	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1			63	78	0	0	0	0	63	78				
GATAD2B	57459	broad.mit.edu	37	1	153790617	153790618	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:153790617_153790618insA	ENST00000368655.4	-	5	870_871	c.627_628insT	c.(625-630)attgttfs	p.V210fs		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	210					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GATGGCTGAACAATAGATGCTG	0.475																																						uc001fdb.3		NA																	0					0						c.(625-630)ATTGTTfs		GATA zinc finger domain containing 2B																																				SO:0001589	frameshift_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153790617_153790618insA	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.628dupT	1.37:g.153790619_153790619dupA	ENSP00000357644:p.Val210fs						p.I209fs	NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		5	871_872	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		209_210					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Frame_Shift_Ins	INS	ENST00000368655.4	37	c.627_628insT	CCDS1054.1																																																																																				0.475	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		26	126	NA	NA	NA	NA	26	126	---	---	---	---
IVNS1ABP	10625	broad.mit.edu	37	1	185274695	185274696	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr1:185274695_185274696insCT	ENST00000367498.3	-	8	1359_1360	c.737_738insAG	c.(736-738)agtfs	p.S246fs	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Frame_Shift_Ins_p.S28fs	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	246	Sufficient for AHR interaction and signaling.				negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GGTCATCATCACTGCCAAACAC	0.416																																						uc001grl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(736-738)AGTfs		influenza virus NS1A binding protein																																				SO:0001589	frameshift_variant	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185274695_185274696insCT	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.736_737dupAG	1.37:g.185274696_185274697dupCT	ENSP00000356468:p.Ser246fs					IVNS1ABP_uc001grj.2_5'UTR|IVNS1ABP_uc009wyj.2_Frame_Shift_Ins_p.S28fs|IVNS1ABP_uc009wyk.2_RNA	p.S246fs	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			8	1360_1361	-			246			Sufficient for AHR interaction and signaling.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Frame_Shift_Ins	INS	ENST00000367498.3	37	c.737_738insAG	CCDS1368.1																																																																																				0.416	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		11	67	NA	NA	NA	NA	11	67	---	---	---	---
SPECC1	92521	broad.mit.edu	37	17	20109115	20109115	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr17:20109115delA	ENST00000261503.5	+	4	1804	c.1753delA	c.(1753-1755)aaafs	p.K585fs	SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395525.3_Frame_Shift_Del_p.K504fs|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Frame_Shift_Del_p.K585fs|SPECC1_ENST00000584527.1_Frame_Shift_Del_p.K3fs|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Frame_Shift_Del_p.K504fs|SPECC1_ENST00000395530.2_Frame_Shift_Del_p.K504fs|SPECC1_ENST00000395527.4_Frame_Shift_Del_p.K585fs	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	585					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGAAATGTTGAAAGTAGCCCG	0.458																																						uc002gwq.2		NA																	0					0						c.(1753-1755)AAAfs		spectrin domain with coiled-coils 1 NSP5b3b							72.0	75.0	74.0					17																	20109115		2203	4300	6503	SO:0001589	frameshift_variant	92521					nucleus		g.chr17:20109115delA	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1753delA	17.37:g.20109115delA	ENSP00000261503:p.Lys585fs					CYTSB_uc010cqx.2_Frame_Shift_Del_p.K585fs|CYTSB_uc002gwr.2_Frame_Shift_Del_p.K585fs|CYTSB_uc002gws.2_Frame_Shift_Del_p.K585fs|CYTSB_uc002gwv.2_Frame_Shift_Del_p.K504fs|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Frame_Shift_Del_p.K361fs|CYTSB_uc002gwt.2_Frame_Shift_Del_p.K504fs|CYTSB_uc002gwu.2_Frame_Shift_Del_p.K504fs	p.K585fs	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN			4	1898	+			585			Potential.		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Frame_Shift_Del	DEL	ENST00000261503.5	37	c.1753delA	CCDS32590.1																																																																																				0.458	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		20	74	NA	NA	NA	NA	20	74	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187629576	187629580	+	Frame_Shift_Del	DEL	TTGTA	TTGTA	-	rs187074121	byFrequency	TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr4:187629576_187629580delTTGTA	ENST00000441802.2	-	2	1611_1615	c.1402_1406delTACAA	c.(1402-1407)tacaaafs	p.YK468fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	468	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAAAGCAGCTTTGTACGCTGTCTGG	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(1402-1407)TACAAAfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629576_187629580delTTGTA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1402_1406delTACAA	4.37:g.187629576_187629580delTTGTA	ENSP00000406229:p.Tyr468fs	HNSCC(5;0.00058)				FAT1_uc010iso.1_Frame_Shift_Del_p.Y468fs	p.Y468fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	1590_1594	-			468_469			Extracellular (Potential).|Cadherin 4.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.1402_1406delTACAA	CCDS47177.1																																																																																				0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		50	210	NA	NA	NA	NA	50	210	---	---	---	---
WRNIP1	56897	broad.mit.edu	37	6	2766468	2766469	+	Frame_Shift_Ins	INS	-	-	GGGG	rs148900120		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:2766468_2766469insGGGG	ENST00000380773.4	+	1	821_822	c.612_613insGGGG	c.(613-615)gggfs	p.G205fs	WRNIP1_ENST00000380764.1_5'Flank|WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.G205fs|WRNIP1_ENST00000380769.4_5'UTR	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GGGCCAGTggcgggggccgccc	0.752																																						uc003mtz.2		NA																	0				ovary(1)|pancreas(1)	2						c.(610-615)GGCGGGfs		Werner helicase interacting protein isoform 1																																				SO:0001589	frameshift_variant	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2766468_2766469insGGGG	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.613_616dupGGGG	6.37:g.2766469_2766472dupGGGG	ENSP00000370150:p.Gly205fs					WRNIP1_uc003mua.2_Frame_Shift_Ins_p.G204fs	p.G204fs	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN			1	803_804	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	204_205						Frame_Shift_Ins	INS	ENST00000380773.4	37	c.612_613insGGGG	CCDS4475.1																																																																																				0.752	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		4	7	NA	NA	NA	NA	4	7	---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83832654	83832656	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr6:83832654_83832656delTTA	ENST00000349129.2	+	12	1553_1555	c.1293_1295delTTA	c.(1291-1296)ccttat>cct	p.Y433del	DOPEY1_ENST00000369739.3_In_Frame_Del_p.Y424del|DOPEY1_ENST00000237163.5_In_Frame_Del_p.Y424del	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	433					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CCTTCGAACCTTATTATATGTGG	0.315																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1291-1296)CCTTAT>CCT		dopey family member 1																																				SO:0001651	inframe_deletion	23033				protein transport			g.chr6:83832654_83832656delTTA	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1293_1295delTTA	6.37:g.83832657_83832659delTTA	ENSP00000195654:p.Tyr433del					DOPEY1_uc011dyy.1_In_Frame_Del_p.Y424del|DOPEY1_uc010kbl.1_In_Frame_Del_p.Y424del	p.Y433del	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	12	1553_1555	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	433					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	In_Frame_Del	DEL	ENST00000349129.2	37	c.1293_1295delTTA	CCDS4996.1																																																																																				0.315	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		7	20	NA	NA	NA	NA	7	20	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21609805	21609806	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:21609805_21609806insA	ENST00000409508.3	+	7	1344_1345	c.1313_1314insA	c.(1312-1317)agaaaafs	p.RK438fs	DNAH11_ENST00000328843.6_Frame_Shift_Ins_p.RK438fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	438	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R438T(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCAACTATAGAAAAAAATTGG	0.391									Kartagener syndrome																													uc003svc.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(1312-1314)AGAfs		dynein, axonemal, heavy chain 11																																				SO:0001589	frameshift_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21609805_21609806insA	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1320dupA	7.37:g.21609812_21609812dupA	ENSP00000475939:p.Arg438fs						p.R438fs	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			7	1344_1345	+			438			Stem (By similarity).		Q9UJ82	Frame_Shift_Ins	INS	ENST00000409508.3	37	c.1313_1314insA																																																																																					0.391	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		11	66	NA	NA	NA	NA	11	66	---	---	---	---
ELN	2006	broad.mit.edu	37	7	73474233	73474250	+	In_Frame_Del	DEL	GGCGTGGCTCCTGGAGTT	GGCGTGGCTCCTGGAGTT	-	rs373060543		TCGA-CN-5370-01A-01D-2012-08	TCGA-CN-5370-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f4ca6755-68ca-4702-b08b-65005d31e9be	34dbe31b-1d26-47b3-b6f7-bad6d590e415	g.chr7:73474233_73474250delGGCGTGGCTCCTGGAGTT	ENST00000252034.7	+	23	1831_1848	c.1432_1449delGGCGTGGCTCCTGGAGTT	c.(1432-1449)ggcgtggctcctggagttdel	p.GVAPGV490del	ELN_ENST00000380553.4_In_Frame_Del_p.GVAPGV354del|ELN_ENST00000380575.4_In_Frame_Del_p.GVAPGV461del|ELN_ENST00000380562.4_In_Frame_Del_p.GVAPGV496del|ELN_ENST00000357036.5_In_Frame_Del_p.GVAPGV495del|ELN_ENST00000380576.5_In_Frame_Del_p.GVAPGV471del|ELN_ENST00000320399.6_In_Frame_Del_p.GVAPGV490del|ELN_ENST00000320492.7_In_Frame_Del_p.GVAPGV409del|ELN_ENST00000429192.1_In_Frame_Del_p.GVAPGV476del|ELN_ENST00000380584.4_In_Frame_Del_p.GVAPGV457del|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_In_Frame_Del_p.GVAPGV466del|ELN_ENST00000445912.1_In_Frame_Del_p.GVAPGV490del|ELN_ENST00000358929.4_In_Frame_Del_p.GVAPGV525del|ELN_ENST00000458204.1_In_Frame_Del_p.GVAPGV480del	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.G478R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TCCTGGTGTCGGCGTGGCTCCTGGAGTTGGCGTGGCTC	0.587			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.2		NA		Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		1	Substitution - Missense(1)		breast(1)	ovary(3)|pancreas(2)	5						c.(1450-1467)GGCGTGGCTCCTGGAGTTdel		elastin isoform a precursor	Rofecoxib(DB00533)																																			SO:0001651	inframe_deletion	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474233_73474250delGGCGTGGCTCCTGGAGTT		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1432_1449delGGCGTGGCTCCTGGAGTT	7.37:g.73474233_73474250delGGCGTGGCTCCTGGAGTT	ENSP00000252034:p.Gly490_Val495del					RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_In_Frame_Del_p.GVAPGV490del|ELN_uc003tzz.2_In_Frame_Del_p.GVAPGV409del|ELN_uc003tzo.2_In_Frame_Del_p.GVAPGV457del|ELN_uc003tzp.2_In_Frame_Del_p.GVAPGV401del|ELN_uc003tzq.2_In_Frame_Del_p.GVAPGV354del|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_In_Frame_Del_p.GVAPGV471del|ELN_uc003tzt.2_In_Frame_Del_p.GVAPGV495del|ELN_uc003tzu.2_In_Frame_Del_p.GVAPGV476del|ELN_uc003tzv.2_In_Frame_Del_p.GVAPGV461del|ELN_uc003tzx.2_In_Frame_Del_p.GVAPGV480del|ELN_uc011kff.1_In_Frame_Del_p.GVAPGV490del|ELN_uc003tzy.2_In_Frame_Del_p.GVAPGV466del	p.GVAPGV496del	NM_000501	NP_001075224	P15502	ELN_HUMAN			23	1541_1558	+		Lung NSC(55;0.159)	519_524			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	In_Frame_Del	DEL	ENST00000252034.7	37	c.1450_1467delGGCGTGGCTCCTGGAGTT	CCDS5562.2																																																																																				0.587	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		80	366	NA	NA	NA	NA	80	366	---	---	---	---
