#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
PRDM2	7799	broad.mit.edu	37	1	14108768	14108768	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:14108768C>T	ENST00000235372.7	+	8	5334	c.4478C>T	c.(4477-4479)tCa>tTa	p.S1493L	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S1292L|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1493L|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S1292L|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTTTCTCATTCATCTAAGAAA	0.448																																						uc001avi.2		NA																	0				ovary(1)	1						c.(4477-4479)TCA>TTA		retinoblastoma protein-binding zinc finger							115.0	134.0	128.0					1																	14108768		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108768C>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4478C>T	1.37:g.14108768C>T	ENSP00000235372:p.Ser1493Leu					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1493L|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S1292L|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.S1493L	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5334	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1493					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.4478C>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543307	0.65198	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01665	4.81;4.7;4.71;4.71	6.08	6.08	0.98989	.	0.411352	0.25651	N	0.029207	T	0.05181	0.0138	M	0.63428	1.95	0.49299	D	0.999771	P;P;P	0.41978	0.657;0.657;0.767	B;B;B	0.44044	0.255;0.255;0.439	T	0.15983	-1.0418	10	0.62326	D	0.03	.	19.2359	0.93858	0.0:1.0:0.0:0.0	.	1351;1493;1493	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	L	1493;1493;1493;1292;1292	ENSP00000235372:S1493L;ENSP00000312352:S1493L;ENSP00000411103:S1292L;ENSP00000341621:S1292L	ENSP00000235372:S1493L	S	+	2	0	PRDM2	13981355	0.831000	0.29352	0.061000	0.19648	0.961000	0.63080	5.291000	0.65667	2.894000	0.99253	0.591000	0.81541	TCA		0.448	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		56	161	0	0	0	0	56	161				
CROCC	9696	broad.mit.edu	37	1	17275397	17275397	+	Silent	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:17275397C>T	ENST00000375541.5	+	19	2881	c.2812C>T	c.(2812-2814)Ctg>Ttg	p.L938L	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGGCCCTGCTGCTGGCCAA	0.677																																						uc001azt.2		NA																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(2812-2814)CTG>TTG		ciliary rootlet coiled-coil							21.0	25.0	24.0					1																	17275397		2191	4266	6457	SO:0001819	synonymous_variant	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17275397C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2812C>T	1.37:g.17275397C>T						CROCC_uc009voz.1_Intron|CROCC_uc001azu.2_Silent_p.L241L	p.L938L	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	19	2881	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	938			Potential.			Silent	SNP	ENST00000375541.5	37	c.2812C>T	CCDS30616.1																																																																																				0.677	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		5	67	0	0	0	0	5	67				
DOCK7	85440	broad.mit.edu	37	1	63027299	63027299	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:63027299T>C	ENST00000340370.5	-	19	2205	c.2188A>G	c.(2188-2190)Atc>Gtc	p.I730V	DOCK7_ENST00000251157.5_Missense_Mutation_p.I730V	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	730					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGTGTATGGATAGACGAAACA	0.294																																						uc001daq.2		NA																	0				ovary(2)	2						c.(2188-2190)ATC>GTC		dedicator of cytokinesis 7							63.0	68.0	67.0					1																	63027299		2203	4296	6499	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63027299T>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2188A>G	1.37:g.63027299T>C	ENSP00000340742:p.Ile730Val					DOCK7_uc001dan.2_Missense_Mutation_p.I622V|DOCK7_uc001dao.2_Missense_Mutation_p.I622V|DOCK7_uc001dap.2_Missense_Mutation_p.I730V	p.I730V	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			19	2222	-			730			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.2188A>G	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	T	0.209	-1.038527	0.02013	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.35048	1.33;1.33	4.55	-0.245	0.13027	.	0.121143	0.53938	N	0.000043	T	0.09202	0.0227	N	0.01679	-0.765	0.36234	D	0.852852	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.0;0.001	T	0.40590	-0.9555	10	0.02654	T	1	.	6.5905	0.22644	0.0:0.3968:0.1457:0.4575	.	730;730;730;730	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.	V	730	ENSP00000251157:I730V;ENSP00000340742:I730V	ENSP00000251157:I730V	I	-	1	0	DOCK7	62799887	0.974000	0.33945	0.997000	0.53966	0.879000	0.50718	1.139000	0.31504	0.060000	0.16281	-0.604000	0.04097	ATC		0.294	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		39	66	0	0	0	0	39	66				
COL11A1	1301	broad.mit.edu	37	1	103474059	103474059	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:103474059G>T	ENST00000370096.3	-	15	1955	c.1643C>A	c.(1642-1644)tCa>tAa	p.S548*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.S560*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.S509*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.S432*|COL11A1_ENST00000461720.1_5'Flank	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	548	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGCCCCAGATGAACCAGGCCC	0.373																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1642-1644)TCA>TAA		alpha 1 type XI collagen isoform A							55.0	65.0	61.0					1																	103474059		2202	4300	6502	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103474059G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1643C>A	1.37:g.103474059G>T	ENSP00000359114:p.Ser548*					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Nonsense_Mutation_p.S560*|COL11A1_uc001dun.2_Nonsense_Mutation_p.S509*|COL11A1_uc009weh.2_Nonsense_Mutation_p.S432*	p.S548*	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	15	1961	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	548			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.1643C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	40	8.430836	0.98808	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	.	.	.	5.58	4.66	0.58398	.	0.541671	0.19449	N	0.113969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9892	0.47539	0.0706:0.1294:0.8:0.0	.	.	.	.	X	548;560;509;432;560	.	ENSP00000302551:S509X	S	-	2	0	COL11A1	103246647	0.270000	0.24152	0.981000	0.43875	0.867000	0.49689	2.714000	0.47202	1.346000	0.45694	0.655000	0.94253	TCA		0.373	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		14	36	1	0	1.36e-06	1.67e-06	14	36				
ATP1A1	476	broad.mit.edu	37	1	116927412	116927412	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:116927412A>G	ENST00000295598.5	+	3	383	c.131A>G	c.(130-132)cAt>cGt	p.H44R	ATP1A1_ENST00000369496.4_Missense_Mutation_p.H13R|ATP1A1_ENST00000537345.1_Missense_Mutation_p.H44R|AL136376.1_ENST00000598661.1_5'Flank	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	44					ATP biosynthetic process (GO:0006754)|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)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TAGGATGATCATAAACTTAGC	0.313																																						uc001ege.2		NA																	0				ovary(1)	1						c.(130-132)CAT>CGT		Na+/K+ -ATPase alpha 1 subunit isoform a	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						155.0	145.0	149.0					1																	116927412		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116927412A>G	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.131A>G	1.37:g.116927412A>G	ENSP00000295598:p.His44Arg					ATP1A1_uc010owv.1_Missense_Mutation_p.H13R|ATP1A1_uc001egd.2_Missense_Mutation_p.H44R|ATP1A1_uc010oww.1_Missense_Mutation_p.H44R|ATP1A1_uc010owx.1_Missense_Mutation_p.H13R	p.H44R	NM_000701	NP_000692	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	3	470	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	44			Cytoplasmic (Potential).		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.131A>G	CCDS887.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.476412	0.84640	.	.	ENSG00000163399	ENST00000418797;ENST00000295598;ENST00000537345;ENST00000369494;ENST00000339159;ENST00000369496	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.36	5.36	0.76844	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	D	0.94990	0.8133	10	0.87932	D	0	.	14.0676	0.64839	1.0:0.0:0.0:0.0	.	44;44;44	F5H3A1;P05023;P05023-2	.;AT1A1_HUMAN;.	R	13;44;44;13;43;13	ENSP00000400124:H13R;ENSP00000295598:H44R;ENSP00000445306:H44R;ENSP00000358506:H13R;ENSP00000358508:H13R	ENSP00000295598:H44R	H	+	2	0	ATP1A1	116728935	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.782000	0.91809	2.248000	0.74166	0.460000	0.39030	CAT		0.313	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		22	39	0	0	0	0	22	39				
SMG5	23381	broad.mit.edu	37	1	156243195	156243195	+	Silent	SNP	G	G	A	rs151161240	byFrequency	TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:156243195G>A	ENST00000361813.5	-	6	735	c.591C>T	c.(589-591)gcC>gcT	p.A197A	SMG5_ENST00000368267.5_Silent_p.A197A	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	197					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AAAATCTCTCGGCTAGCAGCT	0.468													G|||	2	0.000399361	0.0	0.0	5008	,	,		19508	0.0		0.002	False		,,,				2504	0.0					uc001foc.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(589-591)GCC>GCT		SMG5 homolog nonsense mediated mRNA decay		G		1,4405	2.1+/-5.4	0,1,2202	88.0	84.0	85.0		591	0.4	1.0	1	dbSNP_134	85	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SMG5	NM_015327.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		197/1017	156243195	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156243195G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.591C>T	1.37:g.156243195G>A							p.A197A	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			6	740	-	Hepatocellular(266;0.158)		197					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.591C>T	CCDS1137.1																																																																																				0.468	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		19	32	0	0	0	0	19	32				
GORAB	92344	broad.mit.edu	37	1	170508524	170508524	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:170508524C>A	ENST00000367763.3	+	2	330	c.310C>A	c.(310-312)Cct>Act	p.P104T	GORAB_ENST00000465717.1_3'UTR|GORAB_ENST00000367762.1_Missense_Mutation_p.P104T	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	104						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TCAAAAACCACCTTTTTCTTC	0.473																																						uc001gha.2		NA																	0					0						c.(310-312)CCT>ACT		golgin, RAB6-interacting isoform a							154.0	142.0	146.0					1																	170508524		2203	4300	6503	SO:0001583	missense	92344					Golgi apparatus|nucleus		g.chr1:170508524C>A	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.310C>A	1.37:g.170508524C>A	ENSP00000356737:p.Pro104Thr					GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.3_Missense_Mutation_p.P104T|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	p.P104T	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN			2	337	+			104					Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	37	c.310C>A	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	C	3.918	-0.018726	0.07681	.	.	ENSG00000120370	ENST00000367763;ENST00000367762	T;T	0.77229	-0.09;-1.08	5.4	1.07	0.20283	.	1.189150	0.05925	N	0.634220	T	0.38639	0.1048	L	0.29908	0.895	0.09310	N	1	B	0.26400	0.148	B	0.21917	0.037	T	0.12682	-1.0538	10	0.23891	T	0.37	-25.3034	1.589	0.02650	0.1297:0.3823:0.2526:0.2354	.	104	Q5T7V8	GORAB_HUMAN	T	104	ENSP00000356737:P104T;ENSP00000356736:P104T	ENSP00000356736:P104T	P	+	1	0	GORAB	168775148	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-0.461000	0.06712	-0.062000	0.13088	0.585000	0.79938	CCT		0.473	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		16	43	1	0	0.000308642	0.000362379	16	43				
MROH9	80133	broad.mit.edu	37	1	170965783	170965783	+	Silent	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:170965783T>C	ENST00000367758.3	+	14	1572	c.1473T>C	c.(1471-1473)gcT>gcC	p.A491A	MROH9_ENST00000367759.4_Silent_p.A491A	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	491																	GCTTTATTGCTAAGTAAGAAC	0.428																																						uc001ghg.2		NA																	0				pancreas(1)	1						c.(1471-1473)GCT>GCC		hypothetical protein LOC80133 isoform 2							201.0	188.0	192.0					1																	170965783		1853	4098	5951	SO:0001819	synonymous_variant	80133						binding	g.chr1:170965783T>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1473T>C	1.37:g.170965783T>C						C1orf129_uc009wvy.2_Silent_p.A298A|C1orf129_uc010plz.1_Silent_p.A491A	p.A491A	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			14	1603	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		491					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.1473T>C	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	T	5.792	0.330480	0.10956	.	.	ENSG00000117501	ENST00000426136	.	.	.	5.53	2.59	0.31030	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.2852	4.4002	0.11383	0.1593:0.6014:0.1539:0.0854	.	.	.	.	Q	98	.	.	X	+	1	0	C1orf129	169232407	1.000000	0.71417	0.990000	0.47175	0.033000	0.12548	0.492000	0.22435	0.275000	0.22094	-0.427000	0.05922	TAA		0.428	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		4	136	0	0	0	0	4	136				
STX6	10228	broad.mit.edu	37	1	180959168	180959168	+	Silent	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:180959168G>C	ENST00000258301.5	-	5	678	c.441C>G	c.(439-441)ctC>ctG	p.L147L	STX6_ENST00000469135.1_5'Flank|STX6_ENST00000542060.1_Silent_p.L46L	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	147					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TGGCTCTCTGGAGCTCTCGGT	0.557																																						uc010pnq.1		NA																	0				ovary(1)	1						c.(439-441)CTC>CTG		syntaxin 6							88.0	80.0	83.0					1																	180959168		2203	4300	6503	SO:0001819	synonymous_variant	10228				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity	g.chr1:180959168G>C	AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.441C>G	1.37:g.180959168G>C						STX6_uc001goo.2_Silent_p.L147L|STX6_uc010pnr.1_Silent_p.L46L	p.L147L	NM_005819	NP_005810	O43752	STX6_HUMAN			5	678	-			147			Cytoplasmic (Potential).		B2R652|B4DR17|Q5VY08|Q6FH83	Silent	SNP	ENST00000258301.5	37	c.441C>G	CCDS1341.1																																																																																				0.557	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085143.1	NM_005819		48	66	0	0	0	0	48	66				
KLHDC8A	55220	broad.mit.edu	37	1	205306715	205306715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:205306715G>A	ENST00000367156.3	-	9	1681	c.865C>T	c.(865-867)Caa>Taa	p.Q289*	KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.Q289*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.Q176*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.Q155*|KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.Q289*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	289								p.Q289E(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACAGTGGGTTGATTCCCTGAA	0.587																																						uc001hcf.1		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(865-867)CAA>TAA		kelch domain containing 8A							102.0	116.0	111.0					1																	205306715		2203	4300	6503	SO:0001587	stop_gained	55220							g.chr1:205306715G>A		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.865C>T	1.37:g.205306715G>A	ENSP00000356124:p.Gln289*					KLHDC8A_uc010prg.1_Nonsense_Mutation_p.Q176*|KLHDC8A_uc001hcg.1_Nonsense_Mutation_p.Q289*	p.Q289*	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		6	1433	-	Breast(84;0.23)		289			Kelch 7.		B3KU70|Q9NVG5	Nonsense_Mutation	SNP	ENST00000367156.3	37	c.865C>T	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	36	5.892672	0.97074	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	.	.	.	5.34	5.34	0.76211	.	0.053612	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.2844	18.6459	0.91410	0.0:0.0:1.0:0.0	.	.	.	.	X	289;289;289;176	.	ENSP00000356123:Q289X	Q	-	1	0	KLHDC8A	203573338	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	6.823000	0.75282	2.500000	0.84329	0.591000	0.81541	CAA		0.587	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		45	51	0	0	0	0	45	51				
INTS7	25896	broad.mit.edu	37	1	212120048	212120048	+	Splice_Site	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:212120048C>T	ENST00000366994.3	-	18	2421		c.e18-1		INTS7_ENST00000440600.2_Splice_Site|INTS7_ENST00000469606.1_Splice_Site|INTS7_ENST00000366993.3_Splice_Site|INTS7_ENST00000366992.3_Intron	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7						cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATGCTGTGTGCTGGGGGAAAA	0.348																																						uc001hiw.1		NA																	0					0						c.e18-1		integrator complex subunit 7							48.0	50.0	50.0					1																	212120048		2203	4300	6503	SO:0001630	splice_region_variant	25896				snRNA processing	integrator complex	protein binding	g.chr1:212120048C>T	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2317-1G>A	1.37:g.212120048C>T						INTS7_uc009xdb.1_Intron|INTS7_uc001hix.1_Splice_Site_p.H649_splice|INTS7_uc001hiy.1_Splice_Site_p.H759_splice|INTS7_uc010pta.1_Splice_Site_p.H724_splice	p.H773_splice	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	18	2422	-								B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Splice_Site	SNP	ENST00000366994.3	37	c.2317_splice	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216601	0.79352	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000440600	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9694	0.97278	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS7	210186671	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.201000	0.77847	2.719000	0.93026	0.655000	0.94253	.		0.348	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434	Intron	3	58	0	0	0	0	3	58				
SPHAR	10638	broad.mit.edu	37	1	229440922	229440922	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:229440922A>G	ENST00000366688.3	+	1	794	c.41A>G	c.(40-42)tAt>tGt	p.Y14C	RAB4A_ENST00000366690.4_3'UTR	NM_006542.3	NP_006533.1	Q15513	SPHAR_HUMAN	S-phase response (cyclin related)	14					DNA replication (GO:0006260)							Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TGTTTTAGATATTTTGAGTTT	0.299																																						uc001htk.3		NA																	0					0						c.(40-42)TAT>TGT		S-phase response (cyclin-related)							72.0	73.0	73.0					1																	229440922		2198	4292	6490	SO:0001583	missense	10638				DNA replication			g.chr1:229440922A>G	BC070287	CCDS1576.1	1q42.13	2009-03-11			ENSG00000213029	ENSG00000213029			16957	protein-coding gene	gene with protein product						7799938	Standard	NM_006542		Approved		uc001htk.4	Q15513	OTTHUMG00000058947	ENST00000366688.3:c.41A>G	1.37:g.229440922A>G	ENSP00000355649:p.Tyr14Cys						p.Y14C	NM_006542	NP_006533	Q15513	SPHAR_HUMAN			1	794	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	14					Q4EW09|Q6NSB9	Missense_Mutation	SNP	ENST00000366688.3	37	c.41A>G	CCDS1576.1	.	.	.	.	.	.	.	.	.	.	A	4.755	0.140311	0.09083	.	.	ENSG00000213029	ENST00000366688	.	.	.	4.67	-7.77	0.01227	.	.	.	.	.	T	0.22704	0.0548	.	.	.	0.09310	N	1	B	0.21452	0.056	B	0.23150	0.044	T	0.32534	-0.9903	7	0.87932	D	0	.	0.3328	0.00321	0.2336:0.2366:0.1617:0.3681	.	14	Q15513	SPHAR_HUMAN	C	14	.	ENSP00000355649:Y14C	Y	+	2	0	SPHAR	227507545	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	-0.896000	0.04114	-1.752000	0.01325	0.460000	0.39030	TAT		0.299	SPHAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130347.1	NM_006542		26	32	0	0	0	0	26	32				
OR2G3	81469	broad.mit.edu	37	1	247769130	247769130	+	Silent	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:247769130C>G	ENST00000320002.2	+	1	275	c.243C>G	c.(241-243)acC>acG	p.T81T	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCCTCAGACCTTAGTTAACT	0.458																																						uc010pyz.1		NA																	0				central_nervous_system(1)	1						c.(241-243)ACC>ACG		olfactory receptor, family 2, subfamily G,							290.0	267.0	275.0					1																	247769130		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769130C>G	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.243C>G	1.37:g.247769130C>G							p.T81T	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	243	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		81			Extracellular (Potential).		B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.243C>G	CCDS31093.1																																																																																				0.458	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			120	194	0	0	0	0	120	194				
OR2G6	391211	broad.mit.edu	37	1	248684984	248684984	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:248684984C>G	ENST00000343414.4	+	1	69	c.37C>G	c.(37-39)Ctt>Gtt	p.L13V		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAGGGATTTCTTCTCCTGGG	0.423																																						uc001ien.1		NA																	0				ovary(2)|skin(1)	3						c.(37-39)CTT>GTT		olfactory receptor, family 2, subfamily G,							152.0	143.0	146.0					1																	248684984		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248684984C>G		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.37C>G	1.37:g.248684984C>G	ENSP00000341291:p.Leu13Val						p.L13V	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	37	+	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)	all_cancers(173;0.0156)	13			Extracellular (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.37C>G	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	-	7.475	0.647504	0.14516	.	.	ENSG00000188558	ENST00000343414	T	0.00569	6.52	3.83	-0.762	0.11034	.	0.380782	0.18907	U	0.127872	T	0.00271	0.0008	N	0.03608	-0.345	0.21553	N	0.999641	B	0.06786	0.001	B	0.04013	0.001	T	0.42103	-0.9471	10	0.35671	T	0.21	.	8.3122	0.32077	0.4702:0.4075:0.1222:0.0	.	13	Q5TZ20	OR2G6_HUMAN	V	13	ENSP00000341291:L13V	ENSP00000341291:L13V	L	+	1	0	OR2G6	246751607	0.125000	0.22332	0.978000	0.43139	0.649000	0.38597	-0.269000	0.08596	0.255000	0.21593	0.400000	0.26472	CTT		0.423	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		44	75	0	0	0	0	44	75				
SH3BP5L	80851	broad.mit.edu	37	1	249107242	249107242	+	Silent	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:249107242G>A	ENST00000366472.5	-	6	1886	c.657C>T	c.(655-657)atC>atT	p.I219I	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.I187I	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	219								p.I219I(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCTCTTGCCGATGGCCCTCC	0.652																																						uc001iew.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(655-657)ATC>ATT		SH3-binding domain protein 5-like							56.0	56.0	56.0					1																	249107242		2203	4300	6503	SO:0001819	synonymous_variant	80851							g.chr1:249107242G>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.657C>T	1.37:g.249107242G>A						SH3BP5L_uc010pzp.1_Silent_p.I112I|SH3BP5L_uc010pzq.1_Silent_p.I187I|SH3BP5L_uc001iev.1_Silent_p.I100I	p.I219I	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		6	1209	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	219			Potential.		B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	c.657C>T	CCDS31126.1																																																																																				0.652	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		25	43	0	0	0	0	25	43				
PCDH15	65217	broad.mit.edu	37	10	55568819	55568819	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr10:55568819C>G	ENST00000395445.1	-	36	5385	c.4991G>C	c.(4990-4992)aGa>aCa	p.R1664T	PCDH15_ENST00000395442.1_Missense_Mutation_p.R529T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.R860T|PCDH15_ENST00000395440.1_Missense_Mutation_p.R598T|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATGGGCCTTCTTCTTGCAAG	0.463										HNSCC(58;0.16)																												uc010qhs.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5005-5007)AGA>ACA		protocadherin 15 isoform CD2-1 precursor							99.0	76.0	83.0					10																	55568819		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55568819C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4991G>C	10.37:g.55568819C>G	ENSP00000378832:p.Arg1664Thr	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.R1662T|PCDH15_uc010qhu.1_3'UTR	p.R1669T	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5401	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.5006G>C		.	.	.	.	.	.	.	.	.	.	C	12.69	2.013514	0.35511	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;D;D;D	0.97114	2.23;-4.25;-4.25;-4.25	5.55	5.55	0.83447	.	.	.	.	.	D	0.92133	0.7506	N	0.14661	0.345	0.80722	D	1	P;P	0.38922	0.651;0.651	B;B	0.33521	0.165;0.165	D	0.92875	0.6318	9	0.87932	D	0	.	13.4359	0.61084	0.0:0.9242:0.0:0.0758	.	1662;1664	C6ZEF5;A2A3E2	.;.	T	1664;860;529;598	ENSP00000378832:R1664T;ENSP00000378833:R860T;ENSP00000378829:R529T;ENSP00000378827:R598T	ENSP00000378827:R598T	R	-	2	0	PCDH15	55238825	0.922000	0.31269	0.947000	0.38551	0.148000	0.21650	2.543000	0.45752	2.611000	0.88343	0.655000	0.94253	AGA		0.463	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		11	25	0	0	0	0	11	25				
LCOR	84458	broad.mit.edu	37	10	98714920	98714920	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr10:98714920G>C	ENST00000371097.4	+	8	1089	c.543G>C	c.(541-543)caG>caC	p.Q181H	LCOR_ENST00000356016.3_Missense_Mutation_p.Q181H|LCOR_ENST00000540664.1_Missense_Mutation_p.Q181H|LCOR_ENST00000371103.3_Missense_Mutation_p.Q181H|LCOR_ENST00000498444.1_Intron			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	181					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CTGGATTACAGAATCATGGAC	0.478																																						uc001kms.1		NA																	0				ovary(3)	3						c.(541-543)CAG>CAC		ligand dependent nuclear receptor corepressor							69.0	66.0	67.0					10																	98714920		2203	4300	6503	SO:0001583	missense	84458					nucleus	DNA binding	g.chr10:98714920G>C		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.543G>C	10.37:g.98714920G>C	ENSP00000360138:p.Gln181His					LCOR_uc001kmr.2_Missense_Mutation_p.Q181H|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.Q181H|LCOR_uc001kmu.1_Missense_Mutation_p.Q181H	p.Q181H	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	8	1064	+		Colorectal(252;0.162)	181					D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	c.543G>C	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	G	9.224	1.034114	0.19590	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.54	5.54	0.83059	.	0.405800	0.28343	N	0.015688	T	0.33702	0.0872	N	0.08118	0	0.32755	N	0.505863	P;P	0.50156	0.932;0.886	P;P	0.50934	0.549;0.654	T	0.45396	-0.9264	9	0.52906	T	0.07	-2.0049	13.1091	0.59263	0.0734:0.0:0.9266:0.0	.	181;181	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	H	181	.	ENSP00000348298:Q181H	Q	+	3	2	LCOR	98704910	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.013000	0.57138	2.768000	0.95171	0.650000	0.86243	CAG		0.478	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			24	34	0	0	0	0	24	34				
OR51G1	79324	broad.mit.edu	37	11	4945555	4945555	+	Silent	SNP	A	A	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:4945555A>C	ENST00000321961.2	-	1	82	c.15T>G	c.(13-15)ctT>ctG	p.L5L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTGCTATTAAGAAGAATTG	0.438																																						uc010qyr.1		NA																	0				ovary(1)|skin(1)	2						c.(13-15)CTT>CTG		olfactory receptor, family 51, subfamily G,							45.0	46.0	46.0					11																	4945555		2201	4298	6499	SO:0001819	synonymous_variant	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945555A>C	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.15T>G	11.37:g.4945555A>C							p.L5L	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	15	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	5			Extracellular (Potential).		B9EGW8|Q6IFH6	Silent	SNP	ENST00000321961.2	37	c.15T>G	CCDS31366.1																																																																																				0.438	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237		31	12	0	0	0	0	31	12				
HPX	3263	broad.mit.edu	37	11	6453230	6453230	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:6453230G>C	ENST00000265983.3	-	8	953	c.853C>G	c.(853-855)Ctg>Gtg	p.L285V		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	285					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CTGGTGTCCAGACGCCAGTAG	0.567																																						uc001mdg.2		NA																	0					0						c.(853-855)CTG>GTG		hemopexin precursor							78.0	82.0	80.0					11																	6453230		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6453230G>C	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.853C>G	11.37:g.6453230G>C	ENSP00000265983:p.Leu285Val					HPX_uc001mdf.2_Missense_Mutation_p.L31V|HPX_uc009yfc.2_RNA	p.L285V	NM_000613	NP_000604	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	8	914	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	285			Hemopexin-like 4.		B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.853C>G	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081864	0.55861	.	.	ENSG00000110169	ENST00000265983	T	0.02421	4.3	5.58	3.61	0.41365	Hemopexin/matrixin (2);	0.159391	0.43260	D	0.000584	T	0.03348	0.0097	L	0.45698	1.435	0.41175	D	0.986193	P	0.49307	0.922	P	0.45119	0.47	T	0.56378	-0.7989	10	0.28530	T	0.3	-7.4454	3.9496	0.09363	0.0874:0.1599:0.5874:0.1652	.	285	P02790	HEMO_HUMAN	V	285	ENSP00000265983:L285V	ENSP00000265983:L285V	L	-	1	2	HPX	6409806	0.969000	0.33509	0.999000	0.59377	0.995000	0.86356	0.916000	0.28651	1.364000	0.46038	0.561000	0.74099	CTG		0.567	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		66	31	0	0	0	0	66	31				
GTF2H1	2965	broad.mit.edu	37	11	18369136	18369136	+	Splice_Site	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:18369136G>T	ENST00000265963.4	+	8	999	c.839G>T	c.(838-840)gGc>gTc	p.G280V	GTF2H1_ENST00000530496.2_5'UTR|GTF2H1_ENST00000534641.1_Splice_Site_p.G164V|GTF2H1_ENST00000453096.2_Splice_Site_p.G280V|GTF2H1_ENST00000524753.4_Splice_Site_p.G76V	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	280					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						ttCTCACAGGGCTATGGCATT	0.348								Nucleotide excision repair (NER)																														uc001moi.2		NA																	0					0						c.(838-840)GGC>GTC	NER	general transcription factor IIH, polypeptide 1,							33.0	32.0	33.0					11																	18369136		2199	4293	6492	SO:0001630	splice_region_variant	2965				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	g.chr11:18369136G>T		CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4655	protein-coding gene	gene with protein product		189972	"""general transcription factor IIH, polypeptide 1 (62kD subunit)"""			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.838-1G>T	11.37:g.18369136G>T						GTF2H1_uc001moh.2_Missense_Mutation_p.G280V|GTF2H1_uc009yhm.2_Missense_Mutation_p.G164V|GTF2H1_uc001moj.2_5'UTR	p.G280V	NM_001142307	NP_001135779	P32780	TF2H1_HUMAN			9	1533	+			280					B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	ENST00000265963.4	37	c.839G>T	CCDS7838.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571813	0.86542	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963;ENST00000524753	T;T;T;T	0.35605	1.69;1.67;1.69;1.3	5.71	5.71	0.89125	.	0.044558	0.85682	D	0.000000	T	0.60650	0.2285	M	0.71206	2.165	0.80722	D	1	D	0.71674	0.998	D	0.65323	0.934	T	0.61758	-0.6997	10	0.66056	D	0.02	-9.3587	19.8506	0.96738	0.0:0.0:1.0:0.0	.	280	P32780	TF2H1_HUMAN	V	280;164;280;76	ENSP00000393638:G280V;ENSP00000435375:G164V;ENSP00000265963:G280V;ENSP00000436575:G76V	ENSP00000265963:G280V	G	+	2	0	GTF2H1	18325712	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.202000	0.77856	2.686000	0.91538	0.655000	0.94253	GGC		0.348	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395627.2	NM_005316	Missense_Mutation	10	23	1	0	7.48e-07	9.2e-07	10	23				
LRP4	4038	broad.mit.edu	37	11	46900527	46900527	+	Missense_Mutation	SNP	G	G	C	rs201695857		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:46900527G>C	ENST00000378623.1	-	22	3309	c.3067C>G	c.(3067-3069)Cca>Gca	p.P1023A		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1023					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)		AATCCGCTTGGATTTGGGGAC	0.537																																						uc001ndn.3		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3067-3069)CCA>GCA		low density lipoprotein receptor-related protein							143.0	138.0	140.0					11																	46900527		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.chr11:46900527G>C	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.3067C>G	11.37:g.46900527G>C	ENSP00000367888:p.Pro1023Ala						p.P1023A	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	22	3213	-			1023			Extracellular (Potential).		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3067C>G	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975876	0.74360	.	.	ENSG00000134569	ENST00000378623	D	0.97138	-4.26	5.51	5.51	0.81932	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.97238	0.9097	L	0.41236	1.265	0.80722	D	1	D	0.57899	0.981	D	0.68765	0.96	D	0.95371	0.8464	10	0.16420	T	0.52	.	19.782	0.96420	0.0:0.0:1.0:0.0	.	1023	O75096	LRP4_HUMAN	A	1023	ENSP00000367888:P1023A	ENSP00000367888:P1023A	P	-	1	0	LRP4	46857103	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	9.102000	0.94226	2.757000	0.94681	0.462000	0.41574	CCA		0.537	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		117	125	0	0	0	0	117	125				
OR5W2	390148	broad.mit.edu	37	11	55681486	55681486	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:55681486A>T	ENST00000344514.1	-	1	572	c.573T>A	c.(571-573)gaT>gaA	p.D191E		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGACCTGTGTATCTGAGCGAG	0.383																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1		NA																	0				ovary(1)|skin(1)	2						c.(571-573)GAT>GAA		olfactory receptor, family 5, subfamily W,							66.0	65.0	66.0					11																	55681486		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681486A>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.573T>A	11.37:g.55681486A>T	ENSP00000342448:p.Asp191Glu						p.D191E	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	573	-			191			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.573T>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.013814	0.35511	.	.	ENSG00000187612	ENST00000344514	T	0.00227	8.5	5.0	-4.25	0.03766	GPCR, rhodopsin-like superfamily (1);	0.170932	0.27613	N	0.018584	T	0.00271	0.0008	M	0.76002	2.32	0.09310	N	1	B	0.23990	0.095	B	0.37451	0.25	T	0.38757	-0.9646	10	0.72032	D	0.01	.	12.2501	0.54593	0.4248:0.0:0.5752:0.0	.	191	Q8NH69	OR5W2_HUMAN	E	191	ENSP00000342448:D191E	ENSP00000342448:D191E	D	-	3	2	OR5W2	55438062	0.000000	0.05858	0.030000	0.17652	0.549000	0.35272	-0.514000	0.06298	-0.884000	0.03976	-0.474000	0.04947	GAT		0.383	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		10	68	0	0	0	0	10	68				
SMTNL1	219537	broad.mit.edu	37	11	57310543	57310543	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:57310543A>T	ENST00000399154.2	+	1	428	c.428A>T	c.(427-429)gAg>gTg	p.E143V	SMTNL1_ENST00000527972.1_Missense_Mutation_p.E143V|SMTNL1_ENST00000457912.1_Missense_Mutation_p.E161V			A8MU46	SMTL1_HUMAN	smoothelin-like 1	143	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GAGGAGAAAGAGGCCAAACCT	0.532																																						uc009ymh.1		NA																	0				ovary(1)	1						c.(481-483)GAG>GTG		smoothelin-like 1							36.0	39.0	38.0					11																	57310543		2049	4189	6238	SO:0001583	missense	219537							g.chr11:57310543A>T	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.428A>T	11.37:g.57310543A>T	ENSP00000382108:p.Glu143Val						p.E161V	NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN			2	482	+			143						Missense_Mutation	SNP	ENST00000399154.2	37	c.482A>T		.	.	.	.	.	.	.	.	.	.	A	12.78	2.041334	0.35989	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02682	4.2;4.2;4.2	4.47	0.664	0.17890	.	0.000000	0.31821	U	0.007006	T	0.02012	0.0063	L	0.36672	1.1	0.09310	N	1	P	0.41947	0.766	B	0.33392	0.163	T	0.47886	-0.9082	10	0.87932	D	0	-3.1457	4.4954	0.11835	0.4223:0.3879:0.1898:0.0	.	161	C9J621	.	V	161;143;143	ENSP00000406485:E161V;ENSP00000432651:E143V;ENSP00000382108:E143V	ENSP00000382108:E143V	E	+	2	0	SMTNL1	57067119	0.143000	0.22626	0.000000	0.03702	0.052000	0.14988	1.450000	0.35134	0.012000	0.14892	0.533000	0.62120	GAG		0.532	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		4	18	0	0	0	0	4	18				
C11orf84	144097	broad.mit.edu	37	11	63594564	63594564	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:63594564T>G	ENST00000294244.4	+	6	1398	c.1099T>G	c.(1099-1101)Tcc>Gcc	p.S367A		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	367										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TCTGTCAGAATCCAGCACCAC	0.617																																						uc001nxt.2		NA																	0					0						c.(1099-1101)TCC>GCC		hypothetical protein LOC144097							65.0	55.0	58.0					11																	63594564		2201	4298	6499	SO:0001583	missense	144097							g.chr11:63594564T>G	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.1099T>G	11.37:g.63594564T>G	ENSP00000294244:p.Ser367Ala					C11orf84_uc001nxu.1_RNA	p.S367A	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN			6	1335	+			367					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.1099T>G	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.491950	0.44352	.	.	ENSG00000168005	ENST00000294244	T	0.51325	0.71	5.8	3.36	0.38483	.	1.296880	0.04910	N	0.453044	T	0.43743	0.1261	L	0.50333	1.59	0.28596	N	0.909401	B	0.23937	0.094	B	0.21360	0.034	T	0.41840	-0.9486	10	0.87932	D	0	-18.843	5.4149	0.16368	0.0:0.0889:0.1763:0.7348	.	367	Q9BUA3	CK084_HUMAN	A	367	ENSP00000294244:S367A	ENSP00000294244:S367A	S	+	1	0	C11orf84	63351140	0.898000	0.30612	0.994000	0.49952	0.207000	0.24258	0.885000	0.28227	1.029000	0.39812	0.533000	0.62120	TCC		0.617	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1	NM_138471		11	44	0	0	0	0	11	44				
RELA	5970	broad.mit.edu	37	11	65425831	65425831	+	Silent	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:65425831G>A	ENST00000406246.3	-	8	1065	c.804C>T	c.(802-804)gtC>gtT	p.V268V	RELA_ENST00000525693.1_Silent_p.V268V|RELA_ENST00000308639.9_Silent_p.V265V	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	268	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|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 extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GCTGCATGGAGACACGCACAG	0.627																																						uc001ofg.2		NA																	0				lung(3)|ovary(1)	4						c.(802-804)GTC>GTT		v-rel reticuloendotheliosis viral oncogene							62.0	56.0	58.0					11																	65425831		2201	4297	6498	SO:0001819	synonymous_variant	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|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	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65425831G>A	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.804C>T	11.37:g.65425831G>A						RELA_uc001ofh.2_Silent_p.V265V|RELA_uc010ron.1_Silent_p.V279V|RELA_uc009yqr.2_Silent_p.V215V|RELA_uc001ofe.2_Silent_p.V268V|RELA_uc001off.2_Silent_p.V268V|RELA_uc009yqs.1_Intron	p.V268V	NM_021975	NP_068810	Q04206	TF65_HUMAN			8	944	-			268			RHD.		Q6GTV1|Q6SLK1	Silent	SNP	ENST00000406246.3	37	c.804C>T	CCDS31609.1																																																																																				0.627	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		25	43	0	0	0	0	25	43				
CATSPER1	117144	broad.mit.edu	37	11	65792826	65792826	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:65792826G>T	ENST00000312106.5	-	1	1162	c.1025C>A	c.(1024-1026)gCt>gAt	p.A342D		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	342					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ACGAGAAGCAGCAGGGCCGGG	0.587																																						uc001ogt.2		NA																	0				ovary(2)	2						c.(1024-1026)GCT>GAT		sperm-associated cation channel 1							120.0	97.0	105.0					11																	65792826		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65792826G>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1025C>A	11.37:g.65792826G>T	ENSP00000309052:p.Ala342Asp						p.A342D	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			1	1163	-			342			Cytoplasmic (Potential).		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.1025C>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	9.121	1.009041	0.19199	.	.	ENSG00000175294	ENST00000312106	D	0.97480	-4.4	2.29	-4.58	0.03410	.	5.057910	0.00644	N	0.000522	D	0.94076	0.8101	L	0.50333	1.59	0.09310	N	1	B	0.33694	0.421	B	0.32393	0.145	D	0.88060	0.2793	10	0.38643	T	0.18	0.1042	6.271	0.20955	0.2592:0.1929:0.548:0.0	.	342	Q8NEC5	CTSR1_HUMAN	D	342	ENSP00000309052:A342D	ENSP00000309052:A342D	A	-	2	0	CATSPER1	65549402	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.293000	0.08320	-1.298000	0.02348	-0.565000	0.04167	GCT		0.587	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		30	44	1	0	1.31e-18	1.7e-18	30	44				
SHANK2	22941	broad.mit.edu	37	11	70333469	70333469	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:70333469A>C	ENST00000423696.2	-	15	1828	c.1792T>G	c.(1792-1794)Ttc>Gtc	p.F598V	SHANK2_ENST00000449833.2_Missense_Mutation_p.F382V|SHANK2_ENST00000409161.1_Missense_Mutation_p.F381V|SHANK2_ENST00000338508.4_Missense_Mutation_p.F978V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	598					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTGTTGCGGAAGTTGGCTTGC	0.587																																						uc001oqc.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(2929-2931)TTC>GTC		SH3 and multiple ankyrin repeat domains 2							110.0	114.0	113.0					11																	70333469		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333469A>C	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1792T>G	11.37:g.70333469A>C	ENSP00000394536:p.Phe598Val					SHANK2_uc010rqn.1_Missense_Mutation_p.F389V|SHANK2_uc001opz.2_Missense_Mutation_p.F382V|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.F977V	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3007	-			598					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.2929T>G		.	.	.	.	.	.	.	.	.	.	A	13.20	2.166427	0.38217	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.37584	2.48;2.48;3.2;1.19;2.61;2.61	4.85	3.7	0.42460	.	0.321298	0.33895	N	0.004449	T	0.39226	0.1070	M	0.65975	2.015	0.39497	D	0.96813	B;P;P	0.50819	0.332;0.939;0.594	B;P;P	0.46659	0.186;0.523;0.458	T	0.28299	-1.0048	10	0.17832	T	0.49	.	11.6428	0.51244	0.8511:0.1489:0.0:0.0	.	598;977;382	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	382;381;256;978;598;616;601	ENSP00000399423:F382V;ENSP00000386491:F381V;ENSP00000402944:F256V;ENSP00000345193:F978V;ENSP00000394536:F598V;ENSP00000294018:F601V	ENSP00000294018:F601V	F	-	1	0	SHANK2	70011117	1.000000	0.71417	0.942000	0.38095	0.139000	0.21198	2.642000	0.46596	0.685000	0.31468	0.533000	0.62120	TTC		0.587	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		46	724	0	0	0	0	46	724				
ARAP1	116985	broad.mit.edu	37	11	72415374	72415374	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:72415374G>C	ENST00000393609.3	-	14	2017	c.1815C>G	c.(1813-1815)ttC>ttG	p.F605L	ARAP1_ENST00000455638.2_Missense_Mutation_p.F605L|ARAP1_ENST00000429686.1_Intron|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000359373.5_Missense_Mutation_p.F605L|ARAP1_ENST00000426523.1_Missense_Mutation_p.F360L|ARAP1_ENST00000334211.8_Missense_Mutation_p.F360L|ARAP1_ENST00000393605.3_Missense_Mutation_p.F365L	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	605	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCAGCTGTAAGAAGAGCTGTG	0.667																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2		NA																	0				skin(1)	1						c.(1813-1815)TTC>TTG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							14.0	17.0	16.0					11																	72415374		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72415374G>C	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1815C>G	11.37:g.72415374G>C	ENSP00000377233:p.Phe605Leu					ARAP1_uc001osv.2_Missense_Mutation_p.F605L|ARAP1_uc001osr.2_Missense_Mutation_p.F365L|ARAP1_uc001oss.2_Missense_Mutation_p.F360L|ARAP1_uc009yth.2_Intron|ARAP1_uc010rre.1_Missense_Mutation_p.F360L|ARAP1_uc001osw.1_5'Flank	p.F605L	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			14	2004	-			605			Arf-GAP.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.1815C>G	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361357	0.61403	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000340247	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.41	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	N	0.21508	0.67	0.36303	D	0.857176	B;P;P;B	0.41366	0.171;0.747;0.624;0.296	B;B;P;B	0.48770	0.394;0.397;0.589;0.382	T	0.38457	-0.9660	10	0.42905	T	0.14	.	11.1312	0.48347	0.1555:0.0:0.8445:0.0	.	360;605;605;365	E7EU13;Q96P48-3;Q96P48;Q96P48-1	.;.;ARAP1_HUMAN;.	L	605;605;365;360;605;360;394	ENSP00000352332:F605L;ENSP00000390461:F605L;ENSP00000377230:F365L;ENSP00000335506:F360L;ENSP00000377233:F605L;ENSP00000392264:F360L	ENSP00000335506:F360L	F	-	3	2	ARAP1	72093022	0.999000	0.42202	1.000000	0.80357	0.974000	0.67602	2.908000	0.48750	1.297000	0.44761	0.655000	0.94253	TTC		0.667	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		11	56	0	0	0	0	11	56				
PCF11	51585	broad.mit.edu	37	11	82878338	82878338	+	Silent	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:82878338A>G	ENST00000298281.4	+	6	2441	c.1989A>G	c.(1987-1989)gaA>gaG	p.E663E		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	663					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCAAAAGAGAATTACTTCAAA	0.313																																						uc001ozx.3		NA																	0				ovary(1)	1						c.(1987-1989)GAA>GAG		pre-mRNA cleavage complex II protein Pcf11							47.0	47.0	47.0					11																	82878338		1855	4086	5941	SO:0001819	synonymous_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82878338A>G	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1989A>G	11.37:g.82878338A>G						PCF11_uc010rsu.1_Silent_p.E663E	p.E663E	NM_015885	NP_056969	O94913	PCF11_HUMAN			6	2334	+			663					A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	c.1989A>G	CCDS44689.1																																																																																				0.313	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		12	35	0	0	0	0	12	35				
PICALM	8301	broad.mit.edu	37	11	85718613	85718613	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:85718613T>C	ENST00000393346.3	-	8	927	c.779A>G	c.(778-780)gAc>gGc	p.D260G	PICALM_ENST00000532317.1_Missense_Mutation_p.D260G|PICALM_ENST00000526033.1_Missense_Mutation_p.D260G|PICALM_ENST00000356360.5_Missense_Mutation_p.D260G|PICALM_ENST00000528398.1_Missense_Mutation_p.D209G			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	260	Interaction with FAM64A.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				ATCACCTCTGTCAATTCCAAC	0.289			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	uc001pbm.2		NA		Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	MLLT10|MLL		TALL|AML|		0				urinary_tract(1)|ovary(1)	2						c.(778-780)GAC>GGC		phosphatidylinositol-binding clathrin assembly							121.0	124.0	123.0					11																	85718613		2203	4298	6501	SO:0001583	missense	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85718613T>C	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.779A>G	11.37:g.85718613T>C	ENSP00000377015:p.Asp260Gly					PICALM_uc001pbl.2_Missense_Mutation_p.D260G|PICALM_uc001pbn.2_Missense_Mutation_p.D260G|PICALM_uc010rtl.1_Missense_Mutation_p.D209G|PICALM_uc001pbo.1_5'UTR	p.D260G	NM_007166	NP_009097	Q13492	PICAL_HUMAN			8	1065	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	260					B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	c.779A>G	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596282	0.86953	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	5.57	5.57	0.84162	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.82823	2.61	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.786;1.0	D;D;P;D	0.97110	0.999;1.0;0.682;1.0	T	0.63629	-0.6594	9	.	.	.	-16.4859	14.9035	0.70699	0.0:0.0:0.0:1.0	.	209;260;260;260	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	G	260;260;260;260;209;260	ENSP00000436958:D260G;ENSP00000433846:D260G;ENSP00000377015:D260G;ENSP00000434884:D209G;ENSP00000348718:D260G	.	D	-	2	0	PICALM	85396261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.113000	0.64589	0.482000	0.46254	GAC		0.289	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		3	96	0	0	0	0	3	96				
TAF1D	79101	broad.mit.edu	37	11	93472441	93472441	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:93472441G>C	ENST00000448108.2	-	2	680	c.30C>G	c.(28-30)gaC>gaG	p.D10E	C11orf54_ENST00000354421.3_5'Flank|C11orf54_ENST00000540113.1_5'Flank|C11orf54_ENST00000528288.1_5'Flank|C11orf54_ENST00000528099.1_5'Flank|C11orf54_ENST00000331239.4_5'Flank	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	10					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						ATGTCACATGGTCAAGAGAAT	0.308																																						uc001ped.2		NA																	0					0						c.(28-30)GAC>GAG		TATA box binding protein (TBP)-associated							161.0	150.0	154.0					11																	93472441		2201	4298	6499	SO:0001583	missense	79101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr11:93472441G>C		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.30C>G	11.37:g.93472441G>C	ENSP00000410409:p.Asp10Glu					TAF1D_uc001pdz.2_RNA|TAF1D_uc001pea.1_RNA|C11orf54_uc001pee.1_5'Flank|C11orf54_uc001pef.2_5'Flank|C11orf54_uc009ywi.2_5'Flank|C11orf54_uc001peg.2_5'Flank|C11orf54_uc001peh.2_5'Flank|C11orf54_uc001pei.2_5'Flank	p.D10E	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN			2	232	-			10					Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	c.30C>G	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059193	0.19987	.	.	ENSG00000166012	ENST00000448108	.	.	.	3.22	3.22	0.36961	.	1.566040	0.04270	N	0.341934	T	0.23014	0.0556	N	0.14661	0.345	0.09310	N	1	P	0.36535	0.557	B	0.30646	0.118	T	0.12192	-1.0557	9	0.31617	T	0.26	-19.8556	10.2028	0.43094	0.0:0.0:1.0:0.0	.	10	Q9H5J8	TAF1D_HUMAN	E	10	.	ENSP00000314971:D10E	D	-	3	2	TAF1D	93112089	0.001000	0.12720	0.004000	0.12327	0.003000	0.03518	0.523000	0.22925	2.103000	0.63969	0.655000	0.94253	GAC		0.308	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116		14	69	0	0	0	0	14	69				
CNTN5	53942	broad.mit.edu	37	11	99715973	99715973	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:99715973G>C	ENST00000524871.1	+	6	846	c.556G>C	c.(556-558)Gaa>Caa	p.E186Q	CNTN5_ENST00000279463.3_Missense_Mutation_p.E186Q|CNTN5_ENST00000528682.1_Missense_Mutation_p.E186Q|CNTN5_ENST00000527185.1_Missense_Mutation_p.E186Q|CNTN5_ENST00000418526.2_Missense_Mutation_p.E112Q	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	186	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTTAGTAGAGAAGCTACACT	0.338																																						uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(556-558)GAA>CAA		contactin 5 isoform long							134.0	126.0	128.0					11																	99715973		1825	4090	5915	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99715973G>C	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.556G>C	11.37:g.99715973G>C	ENSP00000435637:p.Glu186Gln					CNTN5_uc009ywv.1_Missense_Mutation_p.E186Q|CNTN5_uc001pfz.2_Missense_Mutation_p.E186Q|CNTN5_uc001pgb.2_Missense_Mutation_p.E112Q	p.E186Q	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	6	895	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	186			Ig-like C2-type 1.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.556G>C	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789604	0.70337	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.8	5.8	0.92144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.160914	0.56097	D	0.000037	T	0.47930	0.1472	L	0.49126	1.545	0.58432	D	0.999999	P;B;P	0.41159	0.74;0.35;0.74	B;B;B	0.43950	0.437;0.18;0.345	T	0.47586	-0.9106	10	0.72032	D	0.01	.	19.0307	0.92955	0.0:0.0:1.0:0.0	.	186;112;186	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	Q	186;186;186;112;186	ENSP00000433575:E186Q;ENSP00000436185:E186Q;ENSP00000435637:E186Q;ENSP00000393229:E112Q;ENSP00000279463:E186Q	ENSP00000279463:E186Q	E	+	1	0	CNTN5	99221183	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	9.397000	0.97276	2.745000	0.94114	0.650000	0.86243	GAA		0.338	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		38	362	0	0	0	0	38	362				
PDGFD	80310	broad.mit.edu	37	11	103870957	103870957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:103870957G>A	ENST00000393158.2	-	2	330	c.151C>T	c.(151-153)Cga>Tga	p.R51*	PDGFD_ENST00000302251.5_Nonsense_Mutation_p.R45*			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	51					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TCATCTCTTCGGTACAAGTCT	0.458																																						uc001phq.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(151-153)CGA>TGA		platelet derived growth factor D isoform 1							174.0	144.0	154.0					11																	103870957		2202	4299	6501	SO:0001587	stop_gained	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103870957G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.151C>T	11.37:g.103870957G>A	ENSP00000376865:p.Arg51*					PDGFD_uc001php.2_Nonsense_Mutation_p.R45*	p.R51*	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	2	523	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	51					A8K9T6|Q9BWV5	Nonsense_Mutation	SNP	ENST00000393158.2	37	c.151C>T	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	37	6.159056	0.97334	.	.	ENSG00000170962	ENST00000393158;ENST00000302251;ENST00000529268	.	.	.	5.85	5.85	0.93711	.	0.220001	0.39834	N	0.001246	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1772	20.1445	0.98072	0.0:0.0:1.0:0.0	.	.	.	.	X	51;45;74	.	ENSP00000302193:R45X	R	-	1	2	PDGFD	103376167	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.400000	0.97290	2.765000	0.95021	0.561000	0.74099	CGA		0.458	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		25	353	0	0	0	0	25	353				
DSCAML1	57453	broad.mit.edu	37	11	117387378	117387378	+	Silent	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:117387378G>A	ENST00000321322.6	-	8	1768	c.1767C>T	c.(1765-1767)atC>atT	p.I589I	DSCAML1_ENST00000527706.1_Silent_p.I319I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	529					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGGATAGCCGATGACCCTGC	0.592																																						uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1765-1767)ATC>ATT		Down syndrome cell adhesion molecule like 1							78.0	70.0	73.0					11																	117387378		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117387378G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1767C>T	11.37:g.117387378G>A							p.I589I	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	8	1769	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	529			Extracellular (Potential).|Ig-like C2-type 6.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.1767C>T	CCDS8384.1																																																																																				0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		7	23	0	0	0	0	7	23				
TECTA	7007	broad.mit.edu	37	11	121000847	121000847	+	Silent	SNP	T	T	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr11:121000847T>G	ENST00000392793.1	+	10	3139	c.2868T>G	c.(2866-2868)tcT>tcG	p.S956S	TECTA_ENST00000264037.2_Silent_p.S956S			O75443	TECTA_HUMAN	tectorin alpha	956					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCTGTGACTCTGTGGCCCGGT	0.602																																						uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(2866-2868)TCT>TCG		tectorin alpha precursor							60.0	62.0	61.0					11																	121000847		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121000847T>G	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2868T>G	11.37:g.121000847T>G							p.S956S	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	9	2868	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	956						Silent	SNP	ENST00000392793.1	37	c.2868T>G	CCDS8434.1																																																																																				0.602	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		21	43	0	0	0	0	21	43				
SOX5	6660	broad.mit.edu	37	12	23716248	23716248	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:23716248C>G	ENST00000451604.2	-	11	1533	c.1432G>C	c.(1432-1434)Gat>Cat	p.D478H	SOX5_ENST00000381381.2_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.D92H|SOX5_ENST00000537393.1_Missense_Mutation_p.D443H|SOX5_ENST00000546136.1_Missense_Mutation_p.D465H|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.D468H|SOX5_ENST00000309359.1_Missense_Mutation_p.D465H			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	478					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACCTTCCCATCAAGCACCTGT	0.418																																						uc001rfw.2		NA																	0				ovary(5)|lung(1)	6						c.(1432-1434)GAT>CAT		SRY (sex determining region Y)-box 5 isoform a							170.0	147.0	155.0					12																	23716248		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23716248C>G	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1432G>C	12.37:g.23716248C>G	ENSP00000398273:p.Asp478His					SOX5_uc001rfx.2_Missense_Mutation_p.D465H|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Missense_Mutation_p.D92H|SOX5_uc010siv.1_Missense_Mutation_p.D465H|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.D430H	p.D478H	NM_006940	NP_008871	P35711	SOX5_HUMAN			11	1534	-			478			Potential.		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1432G>C	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900317	0.72754	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.971;0.971	T	0.62277	-0.6888	10	0.28530	T	0.3	.	20.33	0.98713	0.0:1.0:0.0:0.0	.	443;478;92	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	H	465;465;478;430;443;92;468	ENSP00000437487:D465H;ENSP00000308927:D465H;ENSP00000398273:D478H;ENSP00000439832:D443H;ENSP00000379328:D92H;ENSP00000443520:D468H	ENSP00000308927:D465H	D	-	1	0	SOX5	23607515	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.474000	0.81024	2.810000	0.96702	0.585000	0.79938	GAT		0.418	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		38	49	0	0	0	0	38	49				
TMEM117	84216	broad.mit.edu	37	12	44537363	44537363	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:44537363A>G	ENST00000266534.3	+	4	573	c.446A>G	c.(445-447)aAt>aGt	p.N149S	TMEM117_ENST00000536799.1_Intron|TMEM117_ENST00000551577.1_Missense_Mutation_p.N149S	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	149						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GGCATCCGAAATGAAAGTTTC	0.408																																						uc001rod.2		NA																	0					0						c.(445-447)AAT>AGT		transmembrane protein 117							121.0	121.0	121.0					12																	44537363		2203	4300	6503	SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44537363A>G	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.446A>G	12.37:g.44537363A>G	ENSP00000266534:p.Asn149Ser					TMEM117_uc001roe.2_Intron|TMEM117_uc009zkc.2_Missense_Mutation_p.N149S	p.N149S	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	4	512	+	Lung SC(27;0.192)		149						Missense_Mutation	SNP	ENST00000266534.3	37	c.446A>G	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477563	0.84640	.	.	ENSG00000139173	ENST00000551577;ENST00000266534	T;T	0.54479	0.57;0.57	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.61218	1.895	0.80722	D	1	D;D	0.67145	0.974;0.996	D;D	0.70935	0.953;0.971	T	0.71971	-0.4431	10	0.62326	D	0.03	-24.1111	15.7322	0.77814	1.0:0.0:0.0:0.0	.	149;149	F8VS00;Q9H0C3	.;TM117_HUMAN	S	149	ENSP00000448595:N149S;ENSP00000266534:N149S	ENSP00000266534:N149S	N	+	2	0	TMEM117	42823630	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.794000	0.91867	2.194000	0.70268	0.533000	0.62120	AAT		0.408	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		20	36	0	0	0	0	20	36				
CCT2	10576	broad.mit.edu	37	12	69986801	69986801	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:69986801G>C	ENST00000299300.6	+	9	984	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q	CCT2_ENST00000543146.2_Missense_Mutation_p.E219Q|CCT2_ENST00000544368.2_Missense_Mutation_p.E266Q	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	266					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AAAGGTTGCAGAAATAGAACA	0.343																																						uc001svb.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(796-798)GAA>CAA		chaperonin containing TCP1, subunit 2							87.0	87.0	87.0					12																	69986801		2203	4300	6503	SO:0001583	missense	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69986801G>C	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.796G>C	12.37:g.69986801G>C	ENSP00000299300:p.Glu266Gln					CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.E266Q|CCT2_uc010stl.1_Missense_Mutation_p.E219Q	p.E266Q	NM_006431	NP_006422	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		9	890	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		266					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.796G>C	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100197	0.56183	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.79247	-1.25;-1.25;-1.25	5.71	4.82	0.62117	.	0.091450	0.64402	D	0.000001	T	0.79851	0.4517	L	0.52206	1.635	0.58432	D	0.999999	P;P	0.50710	0.709;0.938	B;P	0.52217	0.351;0.693	T	0.78942	-0.2005	9	.	.	.	-19.6138	14.8661	0.70416	0.0688:0.0:0.9312:0.0	.	266;266	F5GWF6;P78371	.;TCPB_HUMAN	Q	266;266;219	ENSP00000299300:E266Q;ENSP00000441847:E266Q;ENSP00000445471:E219Q	.	E	+	1	0	CCT2	68273068	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.031000	0.93731	1.427000	0.47276	0.644000	0.83932	GAA		0.343	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431		13	35	0	0	0	0	13	35				
TRHDE	29953	broad.mit.edu	37	12	72667201	72667201	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:72667201C>A	ENST00000261180.4	+	1	739	c.643C>A	c.(643-645)Cag>Aag	p.Q215K	TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000550334.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	215					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCCGCAAACCCAGGTCTTAGT	0.572																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(643-645)CAG>AAG		thyrotropin-releasing hormone degrading enzyme							61.0	61.0	61.0					12																	72667201		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667201C>A	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.643C>A	12.37:g.72667201C>A	ENSP00000261180:p.Gln215Lys					LOC283392_uc010stv.1_5'UTR	p.Q215K	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			1	673	+			215			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.643C>A	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449516	0.63178	.	.	ENSG00000072657	ENST00000261180	T	0.04603	3.59	5.11	5.11	0.69529	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.130837	0.52532	D	0.000065	T	0.09686	0.0238	M	0.73598	2.24	0.54753	D	0.999986	P	0.37708	0.606	B	0.34180	0.177	T	0.02705	-1.1121	10	0.72032	D	0.01	.	17.3223	0.87239	0.0:1.0:0.0:0.0	.	215	Q9UKU6	TRHDE_HUMAN	K	215	ENSP00000261180:Q215K	ENSP00000261180:Q215K	Q	+	1	0	TRHDE	70953468	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	7.253000	0.78320	2.362000	0.80069	0.514000	0.50259	CAG		0.572	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		28	34	1	0	1.75e-13	2.25e-13	28	34				
SLC6A15	55117	broad.mit.edu	37	12	85266514	85266514	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:85266514G>A	ENST00000266682.5	-	8	1710	c.1169C>T	c.(1168-1170)cCc>cTc	p.P390L	SLC6A15_ENST00000552192.1_Missense_Mutation_p.P283L|SLC6A15_ENST00000551388.1_5'Flank|SLC6A15_ENST00000309283.7_Missense_Mutation_p.P98L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	390					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GATATGATGGGGAATAATATC	0.323																																						uc001szv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1168-1170)CCC>CTC		solute carrier family 6, member 15 isoform 1							72.0	73.0	73.0					12																	85266514		2203	4298	6501	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85266514G>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1169C>T	12.37:g.85266514G>A	ENSP00000266682:p.Pro390Leu					SLC6A15_uc010sul.1_Missense_Mutation_p.P283L|SLC6A15_uc001szw.1_Missense_Mutation_p.P98L	p.P390L	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			8	1662	-			390			Extracellular (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.1169C>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455523	0.84209	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818	T;T;T	0.78816	-1.21;-0.8;-1.0	5.68	4.76	0.60689	.	0.109173	0.64402	D	0.000006	D	0.88844	0.6547	M	0.84585	2.705	0.80722	D	1	D;P	0.89917	1.0;0.536	D;B	0.83275	0.996;0.306	D	0.88974	0.3403	10	0.45353	T	0.12	.	16.7355	0.85446	0.0:0.1287:0.8713:0.0	.	98;390	F8WJN6;Q9H2J7	.;S6A15_HUMAN	L	98;390;106;283;98	ENSP00000311645:P98L;ENSP00000266682:P390L;ENSP00000450145:P283L	ENSP00000266682:P390L	P	-	2	0	SLC6A15	83790645	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.249000	0.78278	2.666000	0.90696	0.467000	0.42956	CCC		0.323	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		3	37	0	0	0	0	3	37				
KIAA1033	23325	broad.mit.edu	37	12	105556620	105556620	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:105556620A>G	ENST00000332180.5	+	30	3241	c.3154A>G	c.(3154-3156)Atg>Gtg	p.M1052V	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TGGCTTTGCCATGGGTAAGCT	0.308																																						uc001tld.2		NA																	0				kidney(1)|central_nervous_system(1)	2						c.(3154-3156)ATG>GTG		hypothetical protein LOC23325							39.0	36.0	37.0					12																	105556620		1790	4062	5852	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105556620A>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.3154A>G	12.37:g.105556620A>G	ENSP00000328062:p.Met1052Val					KIAA1033_uc010swr.1_Missense_Mutation_p.M1053V|KIAA1033_uc010sws.1_Missense_Mutation_p.M864V	p.M1052V	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			30	3241	+			1052						Missense_Mutation	SNP	ENST00000332180.5	37	c.3154A>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681661	0.88542	.	.	ENSG00000136051	ENST00000332180	T	0.76186	-1.0	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	L	0.61218	1.895	0.80722	D	1	D;D	0.60160	0.987;0.987	P;P	0.61874	0.895;0.895	D	0.84426	0.0574	10	0.59425	D	0.04	.	16.1814	0.81903	1.0:0.0:0.0:0.0	.	1053;1052	B7ZKT9;Q2M389	.;WASH7_HUMAN	V	1052	ENSP00000328062:M1052V	ENSP00000328062:M1052V	M	+	1	0	KIAA1033	104080750	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.090000	0.94144	2.234000	0.73211	0.533000	0.62120	ATG		0.308	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		4	16	0	0	0	0	4	16				
SH2B3	10019	broad.mit.edu	37	12	111886081	111886081	+	Missense_Mutation	SNP	T	T	C	rs199803113	byFrequency	TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:111886081T>C	ENST00000341259.2	+	8	2060	c.1703T>C	c.(1702-1704)aTa>aCa	p.I568T	SH2B3_ENST00000538307.1_Missense_Mutation_p.I366T	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	568					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	CTGCGGGCCATAGACAATCAG	0.562													T|||	2	0.000399361	0.0	0.0014	5008	,	,		18748	0.001		0.0	False		,,,				2504	0.0					uc001tse.2		NA																	0				ovary(1)	1						c.(1702-1704)ATA>ACA		SH2B adaptor protein 3		T	THR/ILE	0,4406		0,0,2203	83.0	99.0	94.0		1703	5.5	1.0	12		94	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SH2B3	NM_005475.2	89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	568/576	111886081	1,13005	2203	4300	6503	SO:0001583	missense	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111886081T>C	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1703T>C	12.37:g.111886081T>C	ENSP00000345492:p.Ile568Thr					SH2B3_uc010syf.1_Missense_Mutation_p.I568T|SH2B3_uc001tsf.2_Missense_Mutation_p.I569T|SH2B3_uc010syg.1_Missense_Mutation_p.I366T	p.I568T	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN			8	2060	+			568					B9EGG5|O95184	Missense_Mutation	SNP	ENST00000341259.2	37	c.1703T>C	CCDS9153.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	23.7	4.452380	0.84209	0.0	1.16E-4	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.44482	0.95;0.92	5.51	5.51	0.81932	.	0.156823	0.52532	D	0.000067	T	0.60222	0.2252	M	0.61703	1.905	0.53688	D	0.999978	D;D;D	0.67145	0.996;0.993;0.991	D;P;P	0.63283	0.913;0.84;0.871	T	0.63950	-0.6521	10	0.87932	D	0	-24.7033	15.9183	0.79539	0.0:0.0:0.0:1.0	.	366;432;568	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	T	568;378;366	ENSP00000345492:I568T;ENSP00000440597:I366T	ENSP00000345492:I568T	I	+	2	0	SH2B3	110370464	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.605000	0.67634	2.225000	0.72522	0.379000	0.24179	ATA		0.562	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		6	10	0	0	0	0	6	10				
TAOK3	51347	broad.mit.edu	37	12	118650751	118650751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:118650751G>A	ENST00000392533.3	-	11	1277	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	TAOK3_ENST00000419821.2_Nonsense_Mutation_p.Q263*	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCTTTCCTGAGGTATTTTC	0.348																																						uc001twx.2		NA																	0				lung(5)|central_nervous_system(1)	6						c.(787-789)CAG>TAG		TAO kinase 3							83.0	77.0	79.0					12																	118650751		2203	4300	6503	SO:0001587	stop_gained	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118650751G>A	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.787C>T	12.37:g.118650751G>A	ENSP00000376317:p.Gln263*					TAOK3_uc001tww.2_Nonsense_Mutation_p.Q93*|TAOK3_uc001twy.3_Nonsense_Mutation_p.Q263*	p.Q263*	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			11	1082	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		263			Protein kinase.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Nonsense_Mutation	SNP	ENST00000392533.3	37	c.787C>T	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	G	43	9.975435	0.99308	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000538601	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.1244	0.93376	0.0:0.0:1.0:0.0	.	.	.	.	X	263;263;161	.	ENSP00000376317:Q263X	Q	-	1	0	TAOK3	117135134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.741000	0.93983	0.650000	0.86243	CAG		0.348	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		17	12	0	0	0	0	17	12				
NCOR2	9612	broad.mit.edu	37	12	124821412	124821412	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr12:124821412G>C	ENST00000405201.1	-	38	6002	c.6002C>G	c.(6001-6003)cCt>cGt	p.P2001R	NCOR2_ENST00000356219.3_Missense_Mutation_p.P2008R|NCOR2_ENST00000404121.2_Missense_Mutation_p.P1562R|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1992R|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1991R|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1991R			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2012					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCGTGGTGAGGTGCGAGGTT	0.687																																						uc010tay.1		NA																	0				skin(3)|ovary(1)	4						c.(6031-6033)CCT>CGT		nuclear receptor co-repressor 2 isoform 1							25.0	30.0	28.0					12																	124821412		1983	4145	6128	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124821412G>C	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6002C>G	12.37:g.124821412G>C	ENSP00000384018:p.Pro2001Arg					NCOR2_uc010taz.1_Missense_Mutation_p.P1995R|NCOR2_uc010tax.1_Missense_Mutation_p.P122R	p.P2011R	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	40	6188	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2012					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6032C>G	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	g	8.488	0.861378	0.17178	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.17691	2.26;2.52;2.26;2.52;2.26;2.52	4.78	3.87	0.44632	.	0.628292	0.15319	N	0.268643	T	0.12603	0.0306	N	0.14661	0.345	0.26769	N	0.969837	P;P;P	0.48640	0.828;0.913;0.859	B;P;B	0.45138	0.276;0.471;0.347	T	0.10730	-1.0617	10	0.25751	T	0.34	-8.0739	12.4791	0.55831	0.0:0.0:0.6311:0.3689	.	1992;2001;2012	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	R	2001;1991;2008;1992;2000;1562;93;1991	ENSP00000384018:P2001R;ENSP00000384202:P1991R;ENSP00000348551:P2008R;ENSP00000380513:P1992R;ENSP00000385618:P1562R;ENSP00000400281:P1991R	ENSP00000348551:P2008R	P	-	2	0	NCOR2	123387365	1.000000	0.71417	0.663000	0.29738	0.456000	0.32438	2.225000	0.42954	0.963000	0.38082	0.556000	0.70494	CCT		0.687	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		18	16	0	0	0	0	18	16				
NHLRC3	387921	broad.mit.edu	37	13	39621219	39621219	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr13:39621219G>A	ENST00000379600.3	+	6	1043	c.721G>A	c.(721-723)Gat>Aat	p.D241N	NHLRC3_ENST00000379599.2_Missense_Mutation_p.D174N|NHLRC3_ENST00000470258.1_Missense_Mutation_p.D44N	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	241						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CCAAGTATTTGATAAAGACAC	0.363																																						uc001uxc.2		NA																	0				skin(1)	1						c.(721-723)GAT>AAT		NHL repeat containing 3 isoform a							142.0	145.0	144.0					13																	39621219		2203	4300	6503	SO:0001583	missense	387921					extracellular region		g.chr13:39621219G>A		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.721G>A	13.37:g.39621219G>A	ENSP00000368920:p.Asp241Asn					NHLRC3_uc001uxd.2_Missense_Mutation_p.D174N|NHLRC3_uc001uxe.2_Missense_Mutation_p.D44N	p.D241N	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	6	1043	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	241			NHL 3.		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	c.721G>A	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.108017	0.56291	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	D;D;D	0.92099	-2.97;-2.97;-2.97	5.68	4.84	0.62591	Six-bladed beta-propeller, TolB-like (1);	0.142674	0.64402	D	0.000006	D	0.88919	0.6568	L	0.49350	1.555	0.39440	D	0.967232	B;B	0.18968	0.006;0.032	B;B	0.17722	0.004;0.019	D	0.85435	0.1151	9	.	.	.	-18.2629	14.258	0.66065	0.0719:0.0:0.9281:0.0	.	174;241	B4DTL0;Q5JS37	.;NHLC3_HUMAN	N	44;241;174	ENSP00000418127:D44N;ENSP00000368920:D241N;ENSP00000368919:D174N	.	D	+	1	0	NHLRC3	38519219	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.834000	0.55798	1.538000	0.49270	0.563000	0.77884	GAT		0.363	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		53	25	0	0	0	0	53	25				
VWA8	23078	broad.mit.edu	37	13	42293870	42293870	+	Silent	SNP	C	C	T	rs140209374		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr13:42293870C>T	ENST00000379310.3	-	26	3041	c.2973G>A	c.(2971-2973)ccG>ccA	p.P991P	VWA8_ENST00000281496.6_Silent_p.P991P	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	991						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GACCTTCAGTCGGAAATTTCT	0.303																																						uc001uyj.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(2971-2973)CCG>CCA		hypothetical protein LOC23078 isoform a		G	,	1,4405		0,1,2202	80.0	74.0	76.0		2973,2973	-0.9	0.8	13	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIAA0564	NM_001009814.1,NM_015058.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	991/1040,991/1906	42293870	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42293870C>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2973G>A	13.37:g.42293870C>T						KIAA0564_uc001uyk.2_Silent_p.P991P	p.P991P	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	26	3043	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	991					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.2973G>A	CCDS41881.1																																																																																				0.303	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		28	14	0	0	0	0	28	14				
ACIN1	22985	broad.mit.edu	37	14	23547373	23547373	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr14:23547373T>C	ENST00000262710.1	-	8	2611	c.2284A>G	c.(2284-2286)Att>Gtt	p.I762V	ACIN1_ENST00000457657.1_Missense_Mutation_p.I722V|ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000555053.1_Missense_Mutation_p.I762V|ACIN1_ENST00000605057.1_Missense_Mutation_p.I704V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	762					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTGTGATGAATTCTTTCTGAT	0.493																																						uc001wit.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2284-2286)ATT>GTT		apoptotic chromatin condensation inducer 1							242.0	231.0	235.0					14																	23547373		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23547373T>C	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2284A>G	14.37:g.23547373T>C	ENSP00000262710:p.Ile762Val					ACIN1_uc001wis.3_Missense_Mutation_p.I444V|ACIN1_uc010akg.2_Missense_Mutation_p.I762V	p.I762V	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	8	2612	-	all_cancers(95;1.36e-05)		762					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.2284A>G	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	T	9.984	1.228903	0.22542	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.05717	3.51;3.51;3.4	5.9	3.46	0.39613	.	0.580048	0.14430	N	0.320044	T	0.04137	0.0115	N	0.22421	0.69	0.23180	N	0.998162	B;B;B	0.19706	0.038;0.022;0.022	B;B;B	0.16289	0.015;0.007;0.007	T	0.36016	-0.9765	10	0.26408	T	0.33	-0.0282	5.6019	0.17359	0.0:0.0871:0.1738:0.7392	.	762;762;722	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	V	762;722;762	ENSP00000262710:I762V;ENSP00000405677:I722V;ENSP00000451328:I762V	ENSP00000262710:I762V	I	-	1	0	ACIN1	22617213	0.987000	0.35691	1.000000	0.80357	0.546000	0.35178	0.533000	0.23082	2.254000	0.74563	0.482000	0.46254	ATT		0.493	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		68	106	0	0	0	0	68	106				
NOVA1	4857	broad.mit.edu	37	14	26949229	26949229	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr14:26949229C>A	ENST00000344429.5	-	3	404	c.401G>T	c.(400-402)aGc>aTc	p.S134I	NOVA1_ENST00000465357.2_Missense_Mutation_p.S134I|NOVA1_ENST00000267422.7_Missense_Mutation_p.S12I|NOVA1_ENST00000547619.1_Missense_Mutation_p.S134I|NOVA1_ENST00000574031.1_Missense_Mutation_p.S134I|NOVA1_ENST00000539517.2_Missense_Mutation_p.S134I	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	137					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTGTAGAATGCTGACTGGTTC	0.418																																						uc001wpy.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(400-402)AGC>ATC		neuro-oncological ventral antigen 1 isoform 1							223.0	187.0	199.0					14																	26949229		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26949229C>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.401G>T	14.37:g.26949229C>A	ENSP00000342387:p.Ser134Ile					NOVA1_uc001wpz.2_Missense_Mutation_p.S134I|NOVA1_uc001wqa.2_Missense_Mutation_p.S12I|NOVA1_uc001wqb.2_Missense_Mutation_p.S134I	p.S134I	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	3	719	-			137					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000344429.5	37	c.401G>T	CCDS9635.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774722	0.70107	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198;ENST00000347476;ENST00000549146;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T;T;T;T	0.50548	1.35;1.22;1.37;1.25;1.45;0.81;0.75;0.75;0.74	5.61	5.61	0.85477	.	0.134894	0.50627	D	0.000106	T	0.40619	0.1124	N	0.19112	0.55	0.50813	D	0.999891	P;P;P;P	0.45986	0.762;0.87;0.718;0.815	B;B;B;B	0.42625	0.343;0.298;0.22;0.393	T	0.42430	-0.9452	10	0.66056	D	0.02	-9.1584	19.6334	0.95719	0.0:1.0:0.0:0.0	.	134;137;134;134	P51513-2;P51513;D3DS81;P51513-4	.;NOVA1_HUMAN;.;.	I	134;134;12;93;12;12;97;134;134	ENSP00000447391:S134I;ENSP00000438875:S134I;ENSP00000267422:S12I;ENSP00000408914:S93I;ENSP00000299472:S12I;ENSP00000449113:S12I;ENSP00000449185:S97I;ENSP00000342387:S134I;ENSP00000448157:S134I	ENSP00000267422:S12I	S	-	2	0	NOVA1	26019069	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.792000	0.85828	2.629000	0.89072	0.585000	0.79938	AGC		0.418	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		48	86	1	0	6.91e-35	9.14e-35	48	86				
SYNE2	23224	broad.mit.edu	37	14	64494410	64494410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr14:64494410C>T	ENST00000344113.4	+	43	6825	c.6613C>T	c.(6613-6615)Cag>Tag	p.Q2205*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.Q2205*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q2205*	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2205					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTAAAATCTCAGGGAAACTA	0.403																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(6613-6615)CAG>TAG		spectrin repeat containing, nuclear envelope 2							76.0	73.0	74.0					14																	64494410		1819	4081	5900	SO:0001587	stop_gained	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64494410C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6613C>T	14.37:g.64494410C>T	ENSP00000341781:p.Gln2205*					SYNE2_uc001xgl.2_Nonsense_Mutation_p.Q2205*	p.Q2205*	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	43	6843	+			2205			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Nonsense_Mutation	SNP	ENST00000344113.4	37	c.6613C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	47	13.680884	0.99757	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.38	4.49	0.54785	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	14.5594	0.68126	0.0:0.8542:0.1458:0.0	.	.	.	.	X	2205	.	ENSP00000261678:Q2205X	Q	+	1	0	SYNE2	63564163	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.378000	0.44309	1.245000	0.43885	0.591000	0.81541	CAG		0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		25	38	0	0	0	0	25	38				
AHNAK2	113146	broad.mit.edu	37	14	105415528	105415528	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr14:105415528T>C	ENST00000333244.5	-	7	6379	c.6260A>G	c.(6259-6261)aAg>aGg	p.K2087R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2087						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGGGCCCTTGAGGTCCAC	0.612																																						uc010axc.1		NA																	0				ovary(1)	1						c.(6259-6261)AAG>AGG		AHNAK nucleoprotein 2							122.0	84.0	98.0					14																	105415528		1813	3043	4856	SO:0001583	missense	113146					nucleus		g.chr14:105415528T>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6260A>G	14.37:g.105415528T>C	ENSP00000353114:p.Lys2087Arg					AHNAK2_uc001ypx.2_Missense_Mutation_p.K1987R	p.K2087R	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	6380	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2087					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.6260A>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	15.88	2.964845	0.53507	.	.	ENSG00000185567	ENST00000333244	T	0.01414	4.92	3.64	3.64	0.41730	.	.	.	.	.	T	0.05593	0.0147	M	0.82716	2.605	0.09310	N	1	P	0.40302	0.712	P	0.50314	0.637	T	0.07462	-1.0771	9	0.41790	T	0.15	-15.4949	9.9663	0.41727	0.0:0.0:0.1705:0.8295	.	2087	Q8IVF2	AHNK2_HUMAN	R	2087	ENSP00000353114:K2087R	ENSP00000353114:K2087R	K	-	2	0	AHNAK2	104486573	0.008000	0.16893	0.003000	0.11579	0.006000	0.05464	0.737000	0.26144	1.623000	0.50342	0.397000	0.26171	AAG		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		127	200	0	0	0	0	127	200				
TRPM1	4308	broad.mit.edu	37	15	31294736	31294736	+	Silent	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr15:31294736T>C	ENST00000256552.6	-	28	4314	c.4167A>G	c.(4165-4167)agA>agG	p.R1389R	TRPM1_ENST00000397795.2_Silent_p.R1367R|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.R1406R	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)		AGTCTGTCTGTCTTTCATCAT	0.378																																						uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(4099-4101)AGA>AGG		transient receptor potential cation channel,							166.0	157.0	159.0					15																	31294736		1861	4105	5966	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294736T>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.4167A>G	15.37:g.31294736T>C						TRPM1_uc010azy.2_Silent_p.R1274R|TRPM1_uc001zfl.2_RNA	p.R1367R	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	4229	-		all_lung(180;1.92e-11)	1367			Cytoplasmic (Potential).			Silent	SNP	ENST00000256552.6	37	c.4101A>G	CCDS58346.1																																																																																				0.378	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		64	66	0	0	0	0	64	66				
DUOX1	53905	broad.mit.edu	37	15	45434285	45434285	+	Silent	SNP	C	C	T	rs140249290	byFrequency	TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr15:45434285C>T	ENST00000321429.4	+	16	2204	c.1797C>T	c.(1795-1797)atC>atT	p.I599I	DUOX1_ENST00000561166.1_Silent_p.I245I|DUOX1_ENST00000389037.3_Silent_p.I599I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	599					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GGGTCACCATCGGGACCCTCT	0.557													C|||	10	0.00199681	0.0068	0.0014	5008	,	,		18471	0.0		0.0	False		,,,				2504	0.0					uc001zus.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(1795-1797)ATC>ATT		dual oxidase 1 precursor		C	,	26,4370	32.6+/-62.9	0,26,2172	133.0	124.0	127.0		1797,1797	-0.4	1.0	15	dbSNP_134	127	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	DUOX1	NM_017434.3,NM_175940.1	,	0,26,6470	TT,TC,CC		0.0,0.5914,0.2001	,	599/1552,599/1552	45434285	26,12966	2198	4298	6496	SO:0001819	synonymous_variant	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45434285C>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1797C>T	15.37:g.45434285C>T						DUOX1_uc001zut.1_Silent_p.I599I|DUOX1_uc010bee.1_5'UTR	p.I599I	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	16	2143	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	599			Helical; (Potential).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	ENST00000321429.4	37	c.1797C>T	CCDS32221.1																																																																																				0.557	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		7	95	0	0	0	0	7	95				
RASL12	51285	broad.mit.edu	37	15	65347288	65347288	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr15:65347288G>T	ENST00000220062.4	-	5	1026	c.750C>A	c.(748-750)agC>agA	p.S250R	RASL12_ENST00000421977.3_Missense_Mutation_p.S231R|RASL12_ENST00000434605.2_Missense_Mutation_p.S239R	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	250					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CCTTGCGCTTGCTCTGGGCCC	0.627											OREG0023189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002aoi.1		NA																	0				skin(1)	1						c.(748-750)AGC>AGA		RAS-like, family 12 protein							45.0	44.0	45.0					15																	65347288		2202	4299	6501	SO:0001583	missense	51285				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr15:65347288G>T	AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"""Ras family member Ris"""					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.750C>A	15.37:g.65347288G>T	ENSP00000220062:p.Ser250Arg		OREG0023189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	RASL12_uc002aoj.1_Missense_Mutation_p.S231R|RASL12_uc010uir.1_Missense_Mutation_p.S239R	p.S250R	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN			5	965	-			250					B2RC29|B4DJW2|B4DU82	Missense_Mutation	SNP	ENST00000220062.4	37	c.750C>A	CCDS10200.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133488	0.77662	.	.	ENSG00000103710	ENST00000220062;ENST00000421977;ENST00000434605	T;D;T	0.82619	-0.67;-1.63;-0.5	5.24	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	L	0.27053	0.805	0.49687	D	0.999817	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.78314	0.963;0.991;0.963	D	0.86117	0.1566	10	0.87932	D	0	.	12.5158	0.56032	0.0792:0.0:0.9208:0.0	.	239;231;250	B4DU82;B4DJW2;Q9NYN1	.;.;RASLC_HUMAN	R	250;231;239	ENSP00000220062:S250R;ENSP00000390028:S231R;ENSP00000412787:S239R	ENSP00000220062:S250R	S	-	3	2	RASL12	63134341	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.103000	0.77014	1.181000	0.42912	0.505000	0.49811	AGC		0.627	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256782.2	NM_016563		16	15	1	0	2.23e-06	2.71e-06	16	15				
SH2D7	646892	broad.mit.edu	37	15	78390796	78390796	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr15:78390796C>T	ENST00000328828.5	+	4	503	c.503C>T	c.(502-504)cCa>cTa	p.P168L	SH2D7_ENST00000409568.2_Missense_Mutation_p.P32L	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	168										endometrium(2)|kidney(2)|lung(3)	7						CCAGAAAACCCACCTGCCACG	0.607																																						uc010blb.1		NA																	0					0						c.(502-504)CCA>CTA		SH2 domain containing 7							55.0	68.0	64.0					15																	78390796		1980	4143	6123	SO:0001583	missense	646892							g.chr15:78390796C>T		CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.503C>T	15.37:g.78390796C>T	ENSP00000327846:p.Pro168Leu						p.P168L	NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN			4	503	+			168						Missense_Mutation	SNP	ENST00000328828.5	37	c.503C>T	CCDS45315.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.626563	0.00813	.	.	ENSG00000183476	ENST00000409568;ENST00000328828	T;T	0.29397	1.57;1.7	3.57	-1.67	0.08238	.	.	.	.	.	T	0.15609	0.0376	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31447	-0.9943	9	0.17369	T	0.5	.	3.7618	0.08607	0.3469:0.4078:0.0:0.2453	.	168	A6NKC9	SH2D7_HUMAN	L	32;168	ENSP00000386676:P32L;ENSP00000327846:P168L	ENSP00000327846:P168L	P	+	2	0	SH2D7	76177851	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.041000	0.13927	-0.504000	0.06577	-1.164000	0.01763	CCA		0.607	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334660.2	NM_001101404		15	24	0	0	0	0	15	24				
AEN	64782	broad.mit.edu	37	15	89173493	89173493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr15:89173493G>T	ENST00000332810.3	+	4	1097	c.946G>T	c.(946-948)Gga>Tga	p.G316*	AEN_ENST00000379231.3_Intron	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	316					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						CAGCAGAGGAGGAGCCAGGGA	0.647																																						uc002bmt.2		NA																	0					0						c.(946-948)GGA>TGA		interferon stimulated exonuclease gene							18.0	17.0	18.0					15																	89173493		2197	4295	6492	SO:0001587	stop_gained	64782				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding	g.chr15:89173493G>T	BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"""interferon stimulated exonuclease gene 20kDa-like 1"""	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.946G>T	15.37:g.89173493G>T	ENSP00000331944:p.Gly316*					AEN_uc010bnm.1_Intron	p.G316*	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN			4	1097	+			316					C9J571|Q9BSA5|Q9H9X7	Nonsense_Mutation	SNP	ENST00000332810.3	37	c.946G>T	CCDS10344.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099404	0.76983	.	.	ENSG00000181026	ENST00000332810	.	.	.	5.09	-0.616	0.11583	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	0.9652	0.01404	0.2711:0.2878:0.2937:0.1474	.	.	.	.	X	316	.	ENSP00000331944:G316X	G	+	1	0	AEN	86974497	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.187000	0.16998	0.235000	0.21160	0.563000	0.77884	GGA		0.647	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309071.1	NM_022767		8	9	1	0	0.00448238	0.00517047	8	9				
ADCY9	115	broad.mit.edu	37	16	4165167	4165167	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:4165167G>A	ENST00000294016.3	-	2	815	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	93					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						TCGAACTTGGGGTCCCACCAG	0.706																																						uc002cvx.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(277-279)CCC>TCC		adenylate cyclase 9							37.0	43.0	41.0					16																	4165167		2197	4299	6496	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.chr16:4165167G>A	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.277C>T	16.37:g.4165167G>A	ENSP00000294016:p.Pro93Ser						p.P93S	NM_001116	NP_001107	O60503	ADCY9_HUMAN			2	816	-			93			Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.277C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697788	0.88830	.	.	ENSG00000162104	ENST00000294016	T	0.72394	-0.65	5.32	5.32	0.75619	.	0.057826	0.64402	D	0.000001	T	0.79299	0.4422	M	0.75615	2.305	0.80722	D	1	D	0.55605	0.972	P	0.50659	0.647	T	0.82283	-0.0534	10	0.66056	D	0.02	.	19.019	0.92905	0.0:0.0:1.0:0.0	.	93	O60503	ADCY9_HUMAN	S	93	ENSP00000294016:P93S	ENSP00000294016:P93S	P	-	1	0	ADCY9	4105168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.627000	0.98412	2.501000	0.84356	0.555000	0.69702	CCC		0.706	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			12	42	0	0	0	0	12	42				
TFAP4	7023	broad.mit.edu	37	16	4308235	4308235	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:4308235C>T	ENST00000204517.6	-	7	1166	c.838G>A	c.(838-840)Gag>Aag	p.E280K		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	280					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TGGGTGCCCTCGATGTGCTGG	0.657																																						uc010uxg.1		NA																	0				ovary(1)	1						c.(838-840)GAG>AAG		transcription factor AP-4 (activating enhancer							44.0	46.0	45.0					16																	4308235		2197	4300	6497	SO:0001583	missense	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4308235C>T	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.838G>A	16.37:g.4308235C>T	ENSP00000204517:p.Glu280Lys						p.E280K	NM_003223	NP_003214	Q01664	TFAP4_HUMAN			7	1092	-			280					O60409	Missense_Mutation	SNP	ENST00000204517.6	37	c.838G>A	CCDS10510.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568540	0.65651	.	.	ENSG00000090447	ENST00000204517	D	0.99737	-6.59	4.57	3.61	0.41365	.	0.000000	0.64402	D	0.000001	D	0.99536	0.9834	M	0.71581	2.175	0.50171	D	0.99985	D	0.76494	0.999	D	0.68621	0.959	D	0.98175	1.0454	10	0.87932	D	0	.	13.6918	0.62550	0.1559:0.8441:0.0:0.0	.	280	Q01664	TFAP4_HUMAN	K	280	ENSP00000204517:E280K	ENSP00000204517:E280K	E	-	1	0	TFAP4	4248236	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.179000	0.77665	1.128000	0.42052	-0.291000	0.09656	GAG		0.657	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		18	30	0	0	0	0	18	30				
GPRC5B	51704	broad.mit.edu	37	16	19871853	19871853	+	Missense_Mutation	SNP	G	G	A	rs147744945		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:19871853G>A	ENST00000300571.2	-	4	1372	c.1181C>T	c.(1180-1182)cCg>cTg	p.P394L	GPRC5B_ENST00000569847.1_Missense_Mutation_p.P394L|GPRC5B_ENST00000535671.1_Intron|GPRC5B_ENST00000569102.1_5'Flank|GPRC5B_ENST00000569479.1_Missense_Mutation_p.P394L|GPRC5B_ENST00000537135.1_Missense_Mutation_p.P420L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	394					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTGACTTGGCGGAGCAGTTGG	0.448																																						uc002dgt.2		NA																	0				lung(1)|breast(1)|skin(1)	3						c.(1180-1182)CCG>CTG		G protein-coupled receptor, family C, group 5,		G	LEU/PRO	1,4393	2.1+/-5.4	0,1,2196	107.0	96.0	99.0		1181	5.3	1.0	16	dbSNP_134	99	0,8600		0,0,4300	no	missense	GPRC5B	NM_016235.1	98	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging	394/404	19871853	1,12993	2197	4300	6497	SO:0001583	missense	51704							g.chr16:19871853G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1181C>T	16.37:g.19871853G>A	ENSP00000300571:p.Pro394Leu					GPRC5B_uc010vav.1_Missense_Mutation_p.P420L	p.P394L	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN			4	1289	-			394			Cytoplasmic (Potential).		D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.1181C>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321853	0.81580	2.28E-4	0.0	ENSG00000167191	ENST00000300571;ENST00000538074;ENST00000537135	T;T	0.48836	0.91;0.8	5.34	5.34	0.76211	.	0.063892	0.64402	D	0.000006	T	0.52240	0.1722	L	0.46157	1.445	0.80722	D	1	D;D	0.63880	0.993;0.987	P;P	0.50136	0.632;0.537	T	0.47045	-0.9147	9	.	.	.	.	18.3923	0.90487	0.0:0.0:1.0:0.0	.	420;394	B7Z831;Q9NZH0	.;GPC5B_HUMAN	L	394;243;420	ENSP00000300571:P394L;ENSP00000441775:P420L	.	P	-	2	0	GPRC5B	19779354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.094000	0.76944	2.637000	0.89404	0.563000	0.77884	CCG		0.448	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			14	23	0	0	0	0	14	23				
TNRC6A	27327	broad.mit.edu	37	16	24800634	24800634	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:24800634A>T	ENST00000395799.3	+	6	800	c.671A>T	c.(670-672)aAc>aTc	p.N224I	TNRC6A_ENST00000315183.7_Missense_Mutation_p.N224I	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	224	Interaction with argonaute family proteins.|Ser-rich.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTAGCACAAACTGTAAGAAT	0.448																																						uc002dmm.2		NA																	0				ovary(2)	2						c.(670-672)AAC>ATC		trinucleotide repeat containing 6A							62.0	67.0	66.0					16																	24800634		2171	4288	6459	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24800634A>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.671A>T	16.37:g.24800634A>T	ENSP00000379144:p.Asn224Ile					TNRC6A_uc010bxs.2_5'UTR|TNRC6A_uc010vcc.1_5'UTR|TNRC6A_uc002dmn.2_5'UTR|TNRC6A_uc002dmo.2_5'UTR	p.N224I	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	785	+			224			Ser-rich.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.671A>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129176	0.56721	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.13307	2.6;2.6	5.92	4.83	0.62350	.	0.626541	0.17509	N	0.171699	T	0.11793	0.0287	L	0.35414	1.06	0.80722	D	1	B	0.26512	0.151	B	0.31812	0.136	T	0.12066	-1.0562	10	0.37606	T	0.19	-1.6295	7.2745	0.26275	0.7806:0.1457:0.0737:0.0	.	224	Q8NDV7	TNR6A_HUMAN	I	224	ENSP00000326900:N224I;ENSP00000379144:N224I	ENSP00000326900:N224I	N	+	2	0	TNRC6A	24708135	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.649000	0.46656	1.082000	0.41137	0.383000	0.25322	AAC		0.448	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		47	62	0	0	0	0	47	62				
SEZ6L2	26470	broad.mit.edu	37	16	29906732	29906732	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:29906732C>T	ENST00000308713.5	-	5	1228	c.701G>A	c.(700-702)gGt>gAt	p.G234D	SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G190D|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G164D	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	234	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGATCCCCCACCAGCCAGCAC	0.622																																						uc002duq.3		NA																	0				ovary(1)|skin(1)	2						c.(700-702)GGT>GAT		seizure related 6 homolog (mouse)-like 2 isoform							42.0	51.0	48.0					16																	29906732		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29906732C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.701G>A	16.37:g.29906732C>T	ENSP00000312550:p.Gly234Asp					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.G164D|SEZ6L2_uc002dur.3_Missense_Mutation_p.G164D|SEZ6L2_uc002dus.3_Intron|SEZ6L2_uc010vec.1_Missense_Mutation_p.G234D|SEZ6L2_uc010ved.1_Missense_Mutation_p.G190D	p.G234D	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			5	941	-			234			CUB 1.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.701G>A	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	c	13.69	2.313120	0.40895	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000537485	T;T;T	0.48836	0.8;0.8;0.8	5.22	4.21	0.49690	CUB (5);	0.151929	0.30051	N	0.010532	T	0.26340	0.0643	N	0.08118	0	0.32209	N	0.576739	B;B;B;B;B	0.32620	0.137;0.299;0.378;0.299;0.378	B;B;B;B;B	0.32677	0.15;0.099;0.065;0.068;0.095	T	0.20042	-1.0287	10	0.12430	T	0.62	.	14.3706	0.66836	0.1777:0.8223:0.0:0.0	.	190;234;164;234;164	F5H293;B7Z5L4;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;SE6L2_HUMAN;.	D	164;234;190	ENSP00000310206:G164D;ENSP00000312550:G234D;ENSP00000439412:G190D	ENSP00000312550:G234D	G	-	2	0	SEZ6L2	29814233	0.970000	0.33590	1.000000	0.80357	0.557000	0.35523	3.021000	0.49651	2.434000	0.82447	0.586000	0.80456	GGT		0.622	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		34	50	0	0	0	0	34	50				
TMEM219	124446	broad.mit.edu	37	16	29979372	29979372	+	Missense_Mutation	SNP	A	A	T	rs201405792	byFrequency	TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:29979372A>T	ENST00000566848.1	+	3	849	c.382A>T	c.(382-384)Atc>Ttc	p.I128F	TMEM219_ENST00000279396.6_Missense_Mutation_p.I128F|TMEM219_ENST00000414689.2_Missense_Mutation_p.I128F|TMEM219_ENST00000561899.2_Missense_Mutation_p.I128F			Q86XT9	TM219_HUMAN	transmembrane protein 219	128					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(1)|prostate(2)	4						ACTGGTCCTTATCACAGCCAG	0.507																																						uc002duw.2		NA																	0					0						c.(382-384)ATC>TTC		transmembrane protein 219							98.0	105.0	103.0					16																	29979372		1912	4123	6035	SO:0001583	missense	124446					integral to membrane		g.chr16:29979372A>T		CCDS42145.1	16p11.2	2008-08-08			ENSG00000149932	ENSG00000149932			25201	protein-coding gene	gene with protein product							Standard	NM_194280		Approved		uc010bzk.1	Q86XT9		ENST00000566848.1:c.382A>T	16.37:g.29979372A>T	ENSP00000457492:p.Ile128Phe					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.I128F|TMEM219_uc010bzk.1_Missense_Mutation_p.I128F|TMEM219_uc002duz.2_Missense_Mutation_p.I128F|TMEM219_uc010bzl.1_RNA	p.I128F	NM_194280	NP_919256	Q86XT9	TM219_HUMAN			4	549	+			128					D5FK14|Q8WVV8	Missense_Mutation	SNP	ENST00000566848.1	37	c.382A>T	CCDS42145.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.653901	0.47362	.	.	ENSG00000149932	ENST00000414689;ENST00000279396	.	.	.	5.66	-2.64	0.06114	.	0.783541	0.11447	N	0.563203	T	0.34395	0.0896	N	0.19112	0.55	0.24115	N	0.995825	P	0.39250	0.665	P	0.46208	0.507	T	0.42649	-0.9439	9	0.87932	D	0	-19.4692	12.192	0.54277	0.3789:0.0:0.6211:0.0	.	128	Q86XT9	TM219_HUMAN	F	128	.	ENSP00000279396:I128F	I	+	1	0	TMEM219	29886873	0.100000	0.21855	0.215000	0.23724	0.752000	0.42762	-0.456000	0.06754	-0.837000	0.04223	0.459000	0.35465	ATC		0.507	TMEM219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435307.1	NM_001083613		61	101	0	0	0	0	61	101				
ABCC12	94160	broad.mit.edu	37	16	48138167	48138167	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:48138167T>G	ENST00000311303.3	-	20	3131	c.2786A>C	c.(2785-2787)aAc>aCc	p.N929T	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	929	ABC transmembrane type-1 2. {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)				CTGCAGAAAGTTCTCTGCGTG	0.493																																						uc002efc.1		NA																	0				ovary(2)|skin(1)	3						c.(2785-2787)AAC>ACC		ATP-binding cassette protein C12							176.0	167.0	170.0					16																	48138167		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48138167T>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.2786A>C	16.37:g.48138167T>G	ENSP00000311030:p.Asn929Thr					ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_RNA	p.N929T	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			20	3132	-		all_cancers(37;0.0474)|all_lung(18;0.047)	929			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2786A>C	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477289	0.63849	.	.	ENSG00000140798	ENST00000311303;ENST00000449939	D	0.88277	-2.36	5.55	4.46	0.54185	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.278967	0.39341	N	0.001381	T	0.79936	0.4532	L	0.27053	0.805	0.80722	D	1	B	0.29188	0.236	B	0.30401	0.115	T	0.70880	-0.4752	10	0.14252	T	0.57	.	9.1079	0.36710	0.0:0.0842:0.0:0.9158	.	929	Q96J65	MRP9_HUMAN	T	929;847	ENSP00000311030:N929T	ENSP00000311030:N929T	N	-	2	0	ABCC12	46695668	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.546000	0.53656	0.942000	0.37525	0.533000	0.62120	AAC		0.493	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		15	310	0	0	0	0	15	310				
DHX38	9785	broad.mit.edu	37	16	72143370	72143370	+	Silent	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:72143370C>T	ENST00000268482.3	+	25	3947	c.3438C>T	c.(3436-3438)ccC>ccT	p.P1146P	DHX38_ENST00000536867.1_Silent_p.P458P	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1146					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGCTGGGCCCCATGTTCTATA	0.637																																					Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.2		NA																	0				skin(1)	1						c.(3436-3438)CCC>CCT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							69.0	49.0	56.0					16																	72143370		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72143370C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3438C>T	16.37:g.72143370C>T						DHX38_uc010vmp.1_Silent_p.P458P	p.P1146P	NM_014003	NP_054722	Q92620	PRP16_HUMAN			25	3793	+		Ovarian(137;0.125)	1146					B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.3438C>T	CCDS10907.1																																																																																				0.637	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		8	23	0	0	0	0	8	23				
CLEC18B	497190	broad.mit.edu	37	16	74455117	74455117	+	Silent	SNP	G	G	A	rs141907838	byFrequency	TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:74455117G>A	ENST00000339953.5	-	1	173	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	RP11-252A24.5_ENST00000566506.1_RNA|RP11-252A24.5_ENST00000567148.1_RNA	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	18						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGGAGGGCCAGGAGCACAGCC	0.682																																						uc002fct.2		NA																	0					0						c.(52-54)CTG>TTG		C-type lectin domain family 18, member B		G		0,4392		0,0,2196	67.0	80.0	76.0		52	2.7	0.9	16	dbSNP_134	76	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	CLEC18B	NM_001011880.2		0,2,6494	AA,AG,GG		0.0233,0.0,0.0154		18/456	74455117	2,12990	2196	4300	6496	SO:0001819	synonymous_variant	497190					extracellular region	sugar binding	g.chr16:74455117G>A	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.52C>T	16.37:g.74455117G>A						CLEC18B_uc002fcu.2_Silent_p.L18L|CLEC18B_uc010vmu.1_Silent_p.L18L|CLEC18B_uc010vmw.1_Silent_p.L18L	p.L18L	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN			1	252	-			18					B4DF90	Silent	SNP	ENST00000339953.5	37	c.52C>T	CCDS32484.1																																																																																				0.682	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		24	99	0	0	0	0	24	99				
PIEZO1	9780	broad.mit.edu	37	16	88780121	88780121	+	IGR	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr16:88780121G>A	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Missense_Mutation_p.E314K|CTU2_ENST00000567949.1_Missense_Mutation_p.E385K|CTU2_ENST00000378384.3_Missense_Mutation_p.E227K|MIR4722_ENST00000578292.1_RNA|CTU2_ENST00000312060.5_Missense_Mutation_p.E314K	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CACCCTGAAGGAGGTCGCTTT	0.637																																						uc002flm.2		NA																	0				skin(1)	1						c.(940-942)GAG>AAG		cytoplasmic tRNA 2-thiolation protein 2 isoform							105.0	97.0	100.0					16																	88780121		2195	4298	6493	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88780121G>A	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780121G>A						CTU2_uc002fln.2_Missense_Mutation_p.E314K|CTU2_uc010chz.2_Missense_Mutation_p.E385K|CTU2_uc010cia.2_Missense_Mutation_p.E227K	p.E314K	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN			9	988	+			314					A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	c.940G>A	CCDS54058.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519151	0.96416	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.66460	-0.21;-0.21;-0.21	4.66	4.66	0.58398	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.85383	0.5684	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.89168	0.3535	10	0.87932	D	0	.	16.6871	0.85311	0.0:0.0:1.0:0.0	.	227;314;314	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	K	227;314;314	ENSP00000367635:E227K;ENSP00000308617:E314K;ENSP00000388320:E314K	ENSP00000308617:E314K	E	+	1	0	CTU2	87307622	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.927000	0.75840	2.311000	0.77944	0.655000	0.94253	GAG		0.637	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		44	106	0	0	0	0	44	106				
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:7578268A>G	ENST00000269305.4	-	6	770	c.581T>C	c.(580-582)cTt>cCt	p.L194P	TP53_ENST00000413465.2_Missense_Mutation_p.L194P|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.L194P|TP53_ENST00000455263.2_Missense_Mutation_p.L194P|TP53_ENST00000445888.2_Missense_Mutation_p.L194P|TP53_ENST00000359597.4_Missense_Mutation_p.L194P	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	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)	CACTCGGATAAGATGCTGAGG	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		108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.L194R(31)|p.L194F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*53(2)|p.L194fs*15(2)|p.K164_P219del(1)|p.A189fs*53(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.I195fs*52(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.L194I(1)|p.L194fs*52(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(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.(580-582)CTT>CCT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							97.0	87.0	90.0					17																	7578268		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.chr17:7578268A>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.581T>C	17.37:g.7578268A>G	ENSP00000269305:p.Leu194Pro	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.L194P|TP53_uc002gih.2_Missense_Mutation_p.L194P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L62P|TP53_uc010cng.1_Missense_Mutation_p.L62P|TP53_uc002gii.1_Missense_Mutation_p.L62P|TP53_uc010cnh.1_Missense_Mutation_p.L194P|TP53_uc010cni.1_Missense_Mutation_p.L194P|TP53_uc002gij.2_Missense_Mutation_p.L194P|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101P|TP53_uc002gio.2_Missense_Mutation_p.L62P|TP53_uc010vug.1_Missense_Mutation_p.L155P	p.L194P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	775	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	194		L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (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.581T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.906791	0.52333	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	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);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194P;ENSP00000352610:L194P;ENSP00000269305:L194P;ENSP00000398846:L194P;ENSP00000391127:L194P;ENSP00000391478:L194P;ENSP00000425104:L62P;ENSP00000423862:L101P	ENSP00000269305:L194P	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	12	0	0	0	0	26	12				
VTN	7448	broad.mit.edu	37	17	26696658	26696658	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:26696658C>G	ENST00000226218.4	-	3	1017	c.399G>C	c.(397-399)gaG>gaC	p.E133D	CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000438614.1_5'Flank|SARM1_ENST00000379061.4_Intron|VTN_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000457710.3_5'Flank|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	133					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	AGTCTATCCCCTCAGGCTTAG	0.622																																						uc002hbc.2		NA																	0				ovary(1)|kidney(1)	2						c.(397-399)GAG>GAC		vitronectin precursor	Urokinase(DB00013)						33.0	33.0	33.0					17																	26696658		2203	4300	6503	SO:0001583	missense	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26696658C>G	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.399G>C	17.37:g.26696658C>G	ENSP00000226218:p.Glu133Asp					SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	p.E133D	NM_000638	NP_000629	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	3	548	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		133					B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.399G>C	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	C	7.556	0.663724	0.14710	.	.	ENSG00000255604	ENST00000226218	T	0.04502	3.61	3.55	-3.66	0.04489	.	1.776110	0.02397	N	0.080276	T	0.04363	0.0120	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	10	0.29301	T	0.29	-3.7715	1.1729	0.01829	0.1615:0.3056:0.318:0.2149	.	133	P04004	VTNC_HUMAN	D	133	ENSP00000226218:E133D	ENSP00000226218:E133D	E	-	3	2	AC002094.1	23720785	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.077000	0.11394	-0.357000	0.08175	0.411000	0.27672	GAG		0.622	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	NM_000638		17	21	0	0	0	0	17	21				
KIAA0100	9703	broad.mit.edu	37	17	26962035	26962035	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:26962035G>T	ENST00000528896.2	-	16	2644	c.2570C>A	c.(2569-2571)gCt>gAt	p.A857D	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.A714D|KIAA0100_ENST00000544884.1_Missense_Mutation_p.A714D|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	857						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGAGGCCCAAGCACGAGTCCC	0.483																																						uc002hbu.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2569-2571)GCT>GAT		hypothetical protein LOC9703 precursor							145.0	160.0	155.0					17																	26962035		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26962035G>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2570C>A	17.37:g.26962035G>T	ENSP00000436773:p.Ala857Asp						p.A857D	NM_014680	NP_055495	Q14667	K0100_HUMAN			16	2669	-	Lung NSC(42;0.00431)		857					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.2570C>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	0.250	-1.007043	0.02112	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.22743	1.94;1.94	5.89	2.74	0.32292	.	0.421068	0.26173	N	0.025915	T	0.11665	0.0284	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.25152	-1.0140	10	0.23302	T	0.38	.	6.4876	0.22097	0.1532:0.1494:0.6974:0.0	.	857	Q14667	K0100_HUMAN	D	857;827;857;714	ENSP00000436773:A857D;ENSP00000446443:A714D	ENSP00000005905:A857D	A	-	2	0	KIAA0100	23986162	0.061000	0.20836	0.015000	0.15790	0.036000	0.12997	2.007000	0.40883	0.838000	0.34948	0.557000	0.71058	GCT		0.483	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		85	106	1	0	3.62e-53	4.83e-53	85	106				
TIAF1	9220	broad.mit.edu	37	17	27400997	27400997	+	Missense_Mutation	SNP	T	T	C	rs115510379		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:27400997T>C	ENST00000359450.6	-	1	4878	c.221A>G	c.(220-222)aAt>aGt	p.N74S	TIAF1_ENST00000408971.2_Missense_Mutation_p.N74S|MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	74					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAATAGGTCATTGCACATAAC	0.552													T|||	1	0.000199681	0.0	0.0	5008	,	,		18245	0.001		0.0	False		,,,				2504	0.0					uc002hdv.1		NA																	0					0						c.(220-222)AAT>AGT		TGFB1-induced anti-apoptotic factor 1							131.0	106.0	114.0					17																	27400997		2203	4300	6503	SO:0001583	missense	9220				anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade	nucleus		g.chr17:27400997T>C	AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.221A>G	17.37:g.27400997T>C	ENSP00000352424:p.Asn74Ser					MYO18A_uc010wbc.1_3'UTR|MYO18A_uc002hds.2_3'UTR|MYO18A_uc010csa.1_3'UTR|MYO18A_uc002hdt.1_3'UTR|MYO18A_uc002hdu.1_3'UTR	p.N74S	NM_004740	NP_004731	O95411	TIAF1_HUMAN	Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		1	1631	-	Lung NSC(42;0.015)		74					A2RRE2|Q6PEG2	Missense_Mutation	SNP	ENST00000359450.6	37	c.221A>G	CCDS32599.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	12.02	1.811859	0.32053	.	.	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	5.55	4.44	0.53790	.	.	.	.	.	T	0.29158	0.0725	N	0.08118	0	0.22639	N	0.998909	P	0.51537	0.946	P	0.52646	0.705	T	0.07693	-1.0759	8	0.87932	D	0	.	8.7103	0.34380	0.0:0.0949:0.0:0.9051	.	74	O95411	TIAF1_HUMAN	S	74	.	ENSP00000386130:N74S	N	-	2	0	TIAF1	24425123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.004000	0.40854	2.333000	0.79357	0.533000	0.62120	AAT		0.552	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372394.2	NM_004740		25	74	0	0	0	0	25	74				
RFFL	117584	broad.mit.edu	37	17	33348470	33348470	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:33348470G>T	ENST00000315249.7	-	3	733	c.511C>A	c.(511-513)Cca>Aca	p.P171T	RFFL_ENST00000584655.1_Missense_Mutation_p.P171T|RFFL_ENST00000413582.2_Missense_Mutation_p.P171T|RFFL_ENST00000394597.2_Missense_Mutation_p.P171T|RFFL_ENST00000378516.2_Missense_Mutation_p.P171T|RFFL_ENST00000447669.2_Missense_Mutation_p.P171T|RFFL_ENST00000415395.2_Missense_Mutation_p.P171T|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Missense_Mutation_p.P171T					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GAGGTAGGTGGAACCATGCTG	0.587																																						uc002hin.1		NA																	0					0						c.(511-513)CCA>ACA		rififylin							82.0	66.0	71.0					17																	33348470		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33348470G>T	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.511C>A	17.37:g.33348470G>T	ENSP00000326170:p.Pro171Thr					RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.P171T|RFFL_uc010cti.1_Missense_Mutation_p.P177T|RFFL_uc002hip.1_Missense_Mutation_p.P171T|RFFL_uc002hio.1_Missense_Mutation_p.P171T	p.P171T	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	3	684	-		Ovarian(249;0.17)	171						Missense_Mutation	SNP	ENST00000315249.7	37	c.511C>A	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	G	5.080	0.200395	0.09652	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850;ENST00000413582;ENST00000415395	T;T;T;T;T;T	0.42900	1.0;1.0;1.0;0.96;1.0;1.0	5.65	5.65	0.86999	.	0.223951	0.47093	D	0.000254	T	0.28433	0.0703	N	0.21194	0.64	0.34303	D	0.684544	B;B;B;B	0.30686	0.073;0.29;0.004;0.073	B;B;B;B	0.34536	0.079;0.185;0.008;0.079	T	0.35450	-0.9788	10	0.29301	T	0.29	-12.3274	7.849	0.29442	0.1631:0.0:0.8369:0.0	.	171;171;171;171	C9JN73;Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;.;RFFL_HUMAN;.	T	171	ENSP00000326170:P171T;ENSP00000378096:P171T;ENSP00000367777:P171T;ENSP00000268850:P171T;ENSP00000408513:P171T;ENSP00000412322:P171T	ENSP00000268850:P171T	P	-	1	0	RFFL	30372583	1.000000	0.71417	0.007000	0.13788	0.112000	0.19704	4.173000	0.58249	2.941000	0.99782	0.655000	0.94253	CCA		0.587	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		13	19	1	0	2.27e-07	2.82e-07	13	19				
HEXIM1	10614	broad.mit.edu	37	17	43226879	43226879	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:43226879G>C	ENST00000332499.2	+	1	2196	c.322G>C	c.(322-324)Gaa>Caa	p.E108Q	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	108					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCGCCGGCAGAAGTGGAACC	0.677											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002iig.2		NA																	0				ovary(1)	1						c.(322-324)GAA>CAA		hexamethylene bis-acetamide inducible 1							7.0	9.0	8.0					17																	43226879		2126	4198	6324	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43226879G>C	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.322G>C	17.37:g.43226879G>C	ENSP00000328773:p.Glu108Gln		OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	914		p.E108Q	NM_006460	NP_006451	O94992	HEXI1_HUMAN			1	2196	+			108					B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.322G>C	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	G	0.936	-0.711162	0.03230	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.08	4.08	0.47627	.	2.109490	0.02768	N	0.119422	T	0.27594	0.0678	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.10543	-1.0625	9	0.15499	T	0.54	-2.1631	11.6406	0.51230	0.0:0.0:1.0:0.0	.	108	O94992	HEXI1_HUMAN	Q	108	.	ENSP00000328773:E108Q	E	+	1	0	HEXIM1	40582662	0.039000	0.19947	0.018000	0.16275	0.063000	0.16089	2.077000	0.41557	2.128000	0.65567	0.561000	0.74099	GAA		0.677	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		5	5	0	0	0	0	5	5				
PPM1D	8493	broad.mit.edu	37	17	58678140	58678140	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:58678140G>T	ENST00000305921.3	+	1	597	c.365G>T	c.(364-366)gGt>gTt	p.G122V		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	122	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			CACTTGTGGGGTTTCATCAAG	0.637																																						uc002iyt.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(364-366)GGT>GTT		protein phosphatase 1D							40.0	31.0	34.0					17																	58678140		2067	4098	6165	SO:0001583	missense	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58678140G>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.365G>T	17.37:g.58678140G>T	ENSP00000306682:p.Gly122Val					PPM1D_uc010ddm.1_RNA	p.G122V	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		1	587	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		122			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	ENST00000305921.3	37	c.365G>T	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625400	0.66901	.	.	ENSG00000170836	ENST00000305921;ENST00000392995	T;T	0.18016	2.24;2.24	5.16	3.13	0.36017	Protein phosphatase 2C-like (4);	0.297666	0.37669	N	0.001989	T	0.21227	0.0511	L	0.28458	0.855	0.80722	D	1	D	0.62365	0.991	P	0.58660	0.843	T	0.01159	-1.1433	10	0.40728	T	0.16	-2.5469	8.8252	0.35050	0.0798:0.285:0.6352:0.0	.	122	O15297	PPM1D_HUMAN	V	122	ENSP00000306682:G122V;ENSP00000376720:G122V	ENSP00000306682:G122V	G	+	2	0	PPM1D	56032922	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.224000	0.42945	0.729000	0.32403	0.655000	0.94253	GGT		0.637	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		7	35	1	0	1.26e-09	1.6e-09	7	35				
BPTF	2186	broad.mit.edu	37	17	65905793	65905793	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:65905793G>A	ENST00000321892.4	+	12	3347	c.3286G>A	c.(3286-3288)Gat>Aat	p.D1096N	BPTF_ENST00000306378.6_Missense_Mutation_p.D970N|BPTF_ENST00000335221.5_Missense_Mutation_p.D1096N|BPTF_ENST00000424123.3_Missense_Mutation_p.D957N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1096					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTCTGAAAAAGATGAGGTAAA	0.343																																						uc002jgf.2		NA																	0				ovary(2)|skin(2)	4						c.(2908-2910)GAT>AAT		bromodomain PHD finger transcription factor							52.0	53.0	53.0					17																	65905793		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65905793G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3286G>A	17.37:g.65905793G>A	ENSP00000315454:p.Asp1096Asn					BPTF_uc002jge.2_Missense_Mutation_p.D1096N	p.D970N	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		10	2969	+	all_cancers(12;6e-11)		1096					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.2908G>A		.	.	.	.	.	.	.	.	.	.	G	12.21	1.869800	0.33069	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.61627	0.1;0.09;0.09	6.07	2.66	0.31614	.	.	.	.	.	T	0.32763	0.0840	N	0.14661	0.345	0.21604	N	0.999629	B;B	0.29301	0.192;0.241	B;B	0.27076	0.076;0.058	T	0.14896	-1.0456	9	0.20519	T	0.43	-0.3374	3.317	0.07036	0.2299:0.0:0.5669:0.2032	.	970;1096	Q12830-2;Q12830-4	.;.	N	970;1096;1096	ENSP00000307208:D970N;ENSP00000334351:D1096N;ENSP00000315454:D1096N	ENSP00000307208:D970N	D	+	1	0	BPTF	63336255	0.122000	0.22280	0.725000	0.30721	0.979000	0.70002	0.209000	0.17435	0.862000	0.35528	0.655000	0.94253	GAT		0.343	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		11	43	0	0	0	0	11	43				
CCDC57	284001	broad.mit.edu	37	17	80156247	80156247	+	Silent	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr17:80156247T>C	ENST00000389641.4	-	3	495	c.459A>G	c.(457-459)aaA>aaG	p.K153K	CCDC57_ENST00000392343.3_Silent_p.K153K|CCDC57_ENST00000392347.1_Silent_p.K153K			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	153										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCAGTGTCCATTTTAGATTTT	0.478																																						uc002kdz.1		NA																	0				ovary(2)	2						c.(457-459)AAA>AAG		coiled-coil domain containing 57							102.0	100.0	101.0					17																	80156247		1852	4097	5949	SO:0001819	synonymous_variant	284001							g.chr17:80156247T>C	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.459A>G	17.37:g.80156247T>C						CCDC57_uc002kdx.1_Silent_p.K153K	p.K153K	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		4	814	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		153			Potential.		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Silent	SNP	ENST00000389641.4	37	c.459A>G																																																																																					0.478	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		3	34	0	0	0	0	3	34				
FHOD3	80206	broad.mit.edu	37	18	34298136	34298136	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr18:34298136G>C	ENST00000359247.4	+	15	2299	c.2299G>C	c.(2299-2301)Gag>Cag	p.E767Q	FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000445677.1_Missense_Mutation_p.E746Q|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Missense_Mutation_p.E784Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.E959Q	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	767					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCCTGATGCTGAGCCCAATGA	0.542																																						uc002kzt.1		NA																	0				skin(3)|large_intestine(2)|breast(2)|ovary(1)	8						c.(2299-2301)GAG>CAG		formin homology 2 domain containing 3							87.0	92.0	90.0					18																	34298136		2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34298136G>C	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2299G>C	18.37:g.34298136G>C	ENSP00000352186:p.Glu767Gln					FHOD3_uc002kzs.1_Missense_Mutation_p.E784Q|FHOD3_uc010dmz.1_Missense_Mutation_p.E499Q|FHOD3_uc010dna.1_Missense_Mutation_p.E87Q	p.E767Q	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN			15	2396	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	767					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.2299G>C		.	.	.	.	.	.	.	.	.	.	G	12.26	1.885323	0.33255	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.33438	1.41;1.41;1.41	4.63	4.63	0.57726	.	0.275437	0.36101	N	0.002790	T	0.45013	0.1321	L	0.56769	1.78	0.19575	N	0.999968	D;D;P	0.67145	0.996;0.985;0.899	P;P;B	0.61874	0.895;0.541;0.431	T	0.28681	-1.0036	10	0.48119	T	0.1	.	9.8497	0.41048	0.0965:0.0:0.9034:0.0	.	746;767;784	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	Q	784;767;746	ENSP00000257209:E784Q;ENSP00000352186:E767Q;ENSP00000411430:E746Q	ENSP00000257209:E784Q	E	+	1	0	FHOD3	32552134	1.000000	0.71417	0.375000	0.26029	0.876000	0.50452	6.202000	0.72131	2.116000	0.64780	0.455000	0.32223	GAG		0.542	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		41	249	0	0	0	0	41	249				
PIK3C3	5289	broad.mit.edu	37	18	39629561	39629561	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr18:39629561C>G	ENST00000262039.4	+	21	2341	c.2255C>G	c.(2254-2256)aCa>aGa	p.T752R	PIK3C3_ENST00000587402.1_Missense_Mutation_p.T99R|PIK3C3_ENST00000589056.1_Missense_Mutation_p.T99R|PIK3C3_ENST00000398870.3_Missense_Mutation_p.T689R|PIK3C3_ENST00000593098.1_Missense_Mutation_p.T237R	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	752	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CTTTTGCTAACAAAAACAGGT	0.378										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2		NA																	0				lung(8)|ovary(1)|breast(1)	10						c.(2254-2256)ACA>AGA		catalytic phosphatidylinositol 3-kinase 3							110.0	99.0	103.0					18																	39629561		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39629561C>G	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2255C>G	18.37:g.39629561C>G	ENSP00000262039:p.Thr752Arg	TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Missense_Mutation_p.T689R|PIK3C3_uc002laq.2_Missense_Mutation_p.T237R|PIK3C3_uc002lar.1_Missense_Mutation_p.T136R	p.T752R	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			21	2313	+			752			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.2255C>G	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707192	0.68615	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.81499	-1.5;-1.5	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.045720	0.85682	D	0.000000	D	0.83161	0.5194	L	0.60455	1.87	0.80722	D	1	P;P;B	0.50528	0.723;0.936;0.336	P;P;B	0.48598	0.583;0.564;0.209	T	0.81484	-0.0912	9	.	.	.	.	19.4349	0.94788	0.0:1.0:0.0:0.0	.	689;689;752	A8MYT4;B4DPV9;Q8NEB9	.;.;PK3C3_HUMAN	R	752;689	ENSP00000262039:T752R;ENSP00000381845:T689R	.	T	+	2	0	PIK3C3	37883559	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.462000	0.80851	2.894000	0.99253	0.655000	0.94253	ACA		0.378	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		34	19	0	0	0	0	34	19				
MED16	10025	broad.mit.edu	37	19	885883	885883	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:885883C>T	ENST00000589119.1	-	4	765	c.766G>A	c.(766-768)Gac>Aac	p.D256N	MED16_ENST00000269814.4_Missense_Mutation_p.D256N|MED16_ENST00000325464.1_Missense_Mutation_p.D256N|MED16_ENST00000312090.6_Missense_Mutation_p.D256N|MED16_ENST00000395808.3_Missense_Mutation_p.D256N|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	256					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCTCCGTGTCGATACGGCAC	0.647																																						uc002lqd.1		NA																	0					0						c.(766-768)GAC>AAC		mediator complex subunit 16							136.0	117.0	124.0					19																	885883		2203	4300	6503	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:885883C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.766G>A	19.37:g.885883C>T	ENSP00000464810:p.Asp256Asn					MED16_uc010drw.1_Missense_Mutation_p.D81N|MED16_uc002lqe.2_Missense_Mutation_p.D245N|MED16_uc002lqf.2_Missense_Mutation_p.D245N|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.D245N|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron	p.D256N	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	917	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	256					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.766G>A	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.666016	0.67700	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000424039	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	3.49	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.128578	0.53938	D	0.000046	T	0.55257	0.1909	L	0.38531	1.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.967;0.963;0.981;0.989	T	0.49854	-0.8895	10	0.22706	T	0.39	-22.4726	14.1741	0.65529	0.0:1.0:0.0:0.0	.	256;256;256;256	E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;MED16_HUMAN	N	256	ENSP00000325612:D256N;ENSP00000308528:D256N;ENSP00000379153:D256N;ENSP00000269814:D256N	ENSP00000269814:D256N	D	-	1	0	MED16	836883	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.034000	0.76511	1.808000	0.52836	0.561000	0.74099	GAC		0.647	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		4	66	0	0	0	0	4	66				
FUT5	2527	broad.mit.edu	37	19	5867283	5867283	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:5867283A>G	ENST00000588525.1	-	2	541	c.454T>C	c.(454-456)Tcc>Ccc	p.S152P	FUT5_ENST00000252675.5_Missense_Mutation_p.S152P	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	152					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TTGCTGGGGGACTCCATGCTG	0.627																																						uc002mdo.3		NA																	0					0						c.(454-456)TCC>CCC		fucosyltransferase 5							51.0	45.0	47.0					19																	5867283		2203	4299	6502	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867283A>G		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.454T>C	19.37:g.5867283A>G	ENSP00000466880:p.Ser152Pro					FUT5_uc010duo.2_Missense_Mutation_p.S152P	p.S152P	NM_002034	NP_002025	Q11128	FUT5_HUMAN			2	542	-			152			Lumenal (Potential).		A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.454T>C	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	A	6.044	0.376505	0.11466	.	.	ENSG00000130383	ENST00000252675	T	0.29397	1.57	1.78	0.693	0.18056	.	0.117011	0.37669	N	0.001998	T	0.24699	0.0599	M	0.62209	1.925	0.23120	N	0.998266	B	0.15473	0.013	B	0.12837	0.008	T	0.17684	-1.0361	10	0.40728	T	0.16	.	4.2646	0.10757	0.6053:0.0:0.3947:0.0	.	152	Q11128	FUT5_HUMAN	P	152	ENSP00000252675:S152P	ENSP00000252675:S152P	S	-	1	0	FUT5	5818283	1.000000	0.71417	0.004000	0.12327	0.001000	0.01503	1.752000	0.38349	-0.016000	0.14127	-0.534000	0.04291	TCC		0.627	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		7	30	0	0	0	0	7	30				
RAVER1	125950	broad.mit.edu	37	19	10434234	10434234	+	Silent	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:10434234G>A	ENST00000293677.6	-	4	897	c.816C>T	c.(814-816)tgC>tgT	p.C272C	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	255	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CATCCTGGCCGCACGCCAGCT	0.667																																						uc002moa.2		NA																	0				ovary(1)	1						c.(814-816)TGC>TGT		RAVER1							23.0	27.0	26.0					19																	10434234		2187	4275	6462	SO:0001819	synonymous_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434234G>A		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.816C>T	19.37:g.10434234G>A							p.C272C	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	896	-			255			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	c.816C>T	CCDS45960.1																																																																																				0.667	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		7	26	0	0	0	0	7	26				
JAK3	3718	broad.mit.edu	37	19	17948809	17948809	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:17948809C>G	ENST00000527670.1	-	11	1662	c.1633G>C	c.(1633-1635)Gat>Cat	p.D545H	JAK3_ENST00000534444.1_Missense_Mutation_p.D545H|JAK3_ENST00000458235.1_Missense_Mutation_p.D545H|JAK3_ENST00000526008.1_5'Flank			P52333	JAK3_HUMAN	Janus kinase 3	545	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GCCTCCCCATCCACCACCTCA	0.567		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		0				haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(1633-1635)GAT>CAT		Janus kinase 3							148.0	145.0	146.0					19																	17948809		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17948809C>G	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1633G>C	19.37:g.17948809C>G	ENSP00000432511:p.Asp545His					JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.D545H	p.D545H	NM_000215	NP_000206	P52333	JAK3_HUMAN			12	1733	-			545			Protein kinase 1.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1633G>C	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823308	0.32237	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.64803	-0.12;-0.12;-0.12	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.187385	0.43919	D	0.000505	T	0.78470	0.4288	M	0.86953	2.85	0.27944	N	0.937391	D;P	0.64830	0.994;0.842	D;P	0.67382	0.951;0.859	T	0.74106	-0.3772	10	0.87932	D	0	-23.2031	9.2977	0.37827	0.0:0.9009:0.0:0.0991	.	545;545	P52333-2;P52333	.;JAK3_HUMAN	H	545	ENSP00000391676:D545H;ENSP00000432511:D545H;ENSP00000436421:D545H	ENSP00000413248:D545H	D	-	1	0	JAK3	17809809	0.997000	0.39634	0.987000	0.45799	0.063000	0.16089	4.311000	0.59147	2.284000	0.76573	0.313000	0.20887	GAT		0.567	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		67	95	0	0	0	0	67	95				
ZNF99	7652	broad.mit.edu	37	19	22942464	22942464	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:22942464G>C	ENST00000596209.1	-	4	337	c.247C>G	c.(247-249)Caa>Gaa	p.Q83E	ZNF99_ENST00000397104.3_Missense_Mutation_p.Q104E	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CAAAAGTCTTGTGTAAAATGA	0.279																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(310-312)CAA>GAA		zinc finger protein 99							42.0	37.0	39.0					19																	22942464		1823	4093	5916	SO:0001583	missense	7652							g.chr19:22942464G>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.247C>G	19.37:g.22942464G>C	ENSP00000472969:p.Gln83Glu						p.Q104E	NM_001080409	NP_001073878					4	310	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.310C>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.830513	0.00070	.	.	ENSG00000213973	ENST00000397104	T	0.05925	3.37	0.315	-0.63	0.11530	.	.	.	.	.	T	0.04952	0.0133	L	0.48935	1.535	0.09310	N	1	B	0.19817	0.039	B	0.24848	0.056	T	0.49380	-0.8946	8	0.07990	T	0.79	.	.	.	.	.	104	A8MXY4	ZNF99_HUMAN	E	104	ENSP00000380293:Q104E	ENSP00000380293:Q104E	Q	-	1	0	ZNF99	22734304	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	0.347000	0.20014	-0.737000	0.04824	-0.746000	0.03513	CAA		0.279	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		16	17	0	0	0	0	16	17				
ZNF91	7644	broad.mit.edu	37	19	23544197	23544197	+	Silent	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:23544197T>C	ENST00000300619.7	-	4	1789	c.1584A>G	c.(1582-1584)agA>agG	p.R528R	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Silent_p.R496R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	528					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTAAGGATTGTCTAAAAGCTT	0.343																																						uc002nre.2		NA																	0					0						c.(1582-1584)AGA>AGG		zinc finger protein 91							39.0	41.0	40.0					19																	23544197		2047	4231	6278	SO:0001819	synonymous_variant	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544197T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1584A>G	19.37:g.23544197T>C						ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Silent_p.R496R	p.R528R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1697	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	528			C2H2-type 14; degenerate.		A8K5E1|B7Z6G6	Silent	SNP	ENST00000300619.7	37	c.1584A>G	CCDS42541.1																																																																																				0.343	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		9	20	0	0	0	0	9	20				
ZNF91	7644	broad.mit.edu	37	19	23544264	23544264	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:23544264G>T	ENST00000300619.7	-	4	1722	c.1517C>A	c.(1516-1518)aCt>aAt	p.T506N	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.T474N|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	506					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTTATGTTTAGTAAGGGTTGA	0.363																																						uc002nre.2		NA																	0					0						c.(1516-1518)ACT>AAT		zinc finger protein 91							52.0	56.0	54.0					19																	23544264		2146	4275	6421	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544264G>T	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1517C>A	19.37:g.23544264G>T	ENSP00000300619:p.Thr506Asn					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.T474N	p.T506N	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1630	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	506			C2H2-type 13.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1517C>A	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	1.961	-0.438803	0.04636	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17528	2.27;2.27	1.71	-1.53	0.08611	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	N	0.11364	0.135	0.09310	N	1	B;B	0.14012	0.009;0.005	B;B	0.16722	0.016;0.006	T	0.41502	-0.9505	9	0.09084	T	0.74	.	2.5722	0.04798	0.4917:0.0:0.3007:0.2076	.	474;506	Q05481-2;Q05481	.;ZNF91_HUMAN	N	506;474	ENSP00000300619:T506N;ENSP00000380272:T474N	ENSP00000300619:T506N	T	-	2	0	ZNF91	23336104	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.626000	0.05527	-0.644000	0.05465	0.205000	0.17691	ACT		0.363	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		9	31	1	0	5.49e-09	6.9e-09	9	31				
ZNF91	7644	broad.mit.edu	37	19	23544273	23544273	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:23544273G>A	ENST00000300619.7	-	4	1713	c.1508C>T	c.(1507-1509)tCa>tTa	p.S503L	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.S471L|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	503					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTAAGGGTTGAGGATTGCCT	0.368																																						uc002nre.2		NA																	0					0						c.(1507-1509)TCA>TTA		zinc finger protein 91							58.0	63.0	61.0					19																	23544273		2164	4278	6442	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544273G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1508C>T	19.37:g.23544273G>A	ENSP00000300619:p.Ser503Leu					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.S471L	p.S503L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1621	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	503			C2H2-type 13.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1508C>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446178	0.25987	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.01705	4.68;4.68	1.71	0.334	0.15948	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08044	0.0201	M	0.77712	2.385	0.09310	N	1	D;P	0.69078	0.997;0.725	D;B	0.79784	0.993;0.278	T	0.15867	-1.0422	9	0.44086	T	0.13	.	8.9204	0.35607	0.0:0.2314:0.7685:0.0	.	471;503	Q05481-2;Q05481	.;ZNF91_HUMAN	L	503;471	ENSP00000300619:S503L;ENSP00000380272:S471L	ENSP00000300619:S503L	S	-	2	0	ZNF91	23336113	0.000000	0.05858	0.001000	0.08648	0.098000	0.18820	-0.558000	0.05978	0.921000	0.36994	0.205000	0.17691	TCA		0.368	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		11	31	0	0	0	0	11	31				
SLC7A10	56301	broad.mit.edu	37	19	33699842	33699842	+	Silent	SNP	T	T	G	rs541216108	byFrequency	TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:33699842T>G	ENST00000253188.4	-	11	1673	c.1527A>C	c.(1525-1527)ccA>ccC	p.P509P	CTD-2540B15.13_ENST00000609744.1_RNA	NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	509					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GCAGGGAGGGTGGGCAGGGGC	0.547													T|||	4	0.000798722	0.0023	0.0	5008	,	,		10342	0.0		0.0	False		,,,				2504	0.001					uc002num.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1525-1527)CCA>CCC		solute carrier family 7, member 10							32.0	35.0	34.0					19																	33699842		2202	4300	6502	SO:0001819	synonymous_variant	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33699842T>G	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.1527A>C	19.37:g.33699842T>G						SLC7A10_uc002nul.2_Silent_p.P356P	p.P509P	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN			11	1674	-	Esophageal squamous(110;0.137)		509					B2RE84	Silent	SNP	ENST00000253188.4	37	c.1527A>C	CCDS12431.1																																																																																				0.547	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		10	70	0	0	0	0	10	70				
NPHS1	4868	broad.mit.edu	37	19	36335330	36335330	+	Silent	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:36335330C>T	ENST00000378910.5	-	15	1961	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	NPHS1_ENST00000353632.6_Silent_p.L654L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	654					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGTCACCACCAGCACCTGCT	0.637																																						uc002oby.2		NA																	0				ovary(4)|skin(1)	5						c.(1960-1962)CTG>CTA		nephrin precursor							21.0	21.0	21.0					19																	36335330		2197	4292	6489	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36335330C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1962G>A	19.37:g.36335330C>T							p.L654L	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	1962	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		654			Extracellular (Potential).		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.1962G>A	CCDS32996.1																																																																																				0.637	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			3	3	0	0	0	0	3	3				
CYP2F1	1572	broad.mit.edu	37	19	41630665	41630665	+	Missense_Mutation	SNP	C	C	T	rs376080668		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:41630665C>T	ENST00000331105.2	+	8	1078	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	336					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGGACGCGCGCGGCTGCCGGC	0.677																																						uc002opu.1		NA																	0					0						c.(1006-1008)CGG>TGG		cytochrome P450, family 2, subfamily F,		C	TRP/ARG	1,4383		0,1,2191	16.0	17.0	17.0		1006	0.6	1.0	19		17	0,8564		0,0,4282	no	missense	CYP2F1	NM_000774.3	101	0,1,6473	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	336/492	41630665	1,12947	2192	4282	6474	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41630665C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1006C>T	19.37:g.41630665C>T	ENSP00000333534:p.Arg336Trp					CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Silent_p.R316R|CYP2F1_uc002opv.1_RNA	p.R336W	NM_000774	NP_000765	P24903	CP2F1_HUMAN			8	1062	+			336					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.1006C>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.577960	0.28180	2.28E-4	0.0	ENSG00000197446	ENST00000331105	T	0.71698	-0.59	3.13	0.644	0.17776	.	0.141587	0.45126	U	0.000381	T	0.73361	0.3577	H	0.98111	4.15	0.44454	D	0.997382	P	0.37207	0.587	B	0.26864	0.074	T	0.73997	-0.3806	10	0.87932	D	0	.	5.4873	0.16757	0.1931:0.6878:0.0:0.1191	.	336	P24903	CP2F1_HUMAN	W	336	ENSP00000333534:R336W	ENSP00000333534:R336W	R	+	1	2	CYP2F1	46322505	0.003000	0.15002	0.964000	0.40570	0.289000	0.27227	0.073000	0.14640	0.541000	0.28827	0.089000	0.15464	CGG		0.677	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			10	6	0	0	0	0	10	6				
MAMSTR	284358	broad.mit.edu	37	19	49216571	49216571	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:49216571C>G	ENST00000318083.6	-	10	1264	c.1201G>C	c.(1201-1203)Gac>Cac	p.D401H	MAMSTR_ENST00000356751.4_Missense_Mutation_p.D298H|MAMSTR_ENST00000377367.3_Missense_Mutation_p.D233H|MAMSTR_ENST00000419611.1_Missense_Mutation_p.D298H|MAMSTR_ENST00000594582.1_Missense_Mutation_p.D233H			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	401	Ser-rich.|Transcription activation. {ECO:0000250}.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CTGCTGGAGTCAGATAAGTCA	0.617											OREG0025608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pkg.2		NA																	0				ovary(1)	1						c.(1201-1203)GAC>CAC		MEF2 activating motif and SAP domain containing							20.0	23.0	22.0					19																	49216571		2188	4292	6480	SO:0001583	missense	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49216571C>G	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.1201G>C	19.37:g.49216571C>G	ENSP00000324175:p.Asp401His		OREG0025608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	960	MAMSTR_uc002pkf.2_Missense_Mutation_p.D298H	p.D401H	NM_001130915	NP_001124387	Q6ZN01	MASTR_HUMAN			10	1263	-			401			Ser-rich.|Transcription activation (By similarity).		B7ZKX4|Q3KQU9|Q8N9Y3	Missense_Mutation	SNP	ENST00000318083.6	37	c.1201G>C	CCDS46137.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.104977	0.37145	.	.	ENSG00000176909	ENST00000318083;ENST00000419611;ENST00000377367;ENST00000356751	.	.	.	4.2	3.15	0.36227	.	0.421595	0.19898	N	0.103579	T	0.38214	0.1032	M	0.62723	1.935	0.28707	N	0.903741	P	0.38195	0.622	B	0.35971	0.215	T	0.42430	-0.9452	9	0.87932	D	0	-6.7227	9.4277	0.38590	0.2128:0.7872:0.0:0.0	.	401	Q6ZN01	MASTR_HUMAN	H	401;298;233;298	.	ENSP00000324175:D401H	D	-	1	0	MAMSTR	53908383	0.997000	0.39634	0.987000	0.45799	0.620000	0.37586	2.575000	0.46025	1.111000	0.41721	0.297000	0.19635	GAC		0.617	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		13	17	0	0	0	0	13	17				
LILRB4	11006	broad.mit.edu	37	19	55179342	55179342	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:55179342C>T	ENST00000391736.1	+	14	1534	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	LILRB4_ENST00000391734.3_Missense_Mutation_p.P354S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P408S|LILRB4_ENST00000430952.2_Missense_Mutation_p.P406S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P407S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	407					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.P407S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATCTGAAGCCCCCCAGGATGT	0.647																																						uc002qgp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1219-1221)CCC>TCC		leukocyte immunoglobulin-like receptor,							62.0	67.0	66.0					19																	55179342		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55179342C>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1219C>T	19.37:g.55179342C>T	ENSP00000375616:p.Pro407Ser					LILRB4_uc002qgq.2_Missense_Mutation_p.P406S|LILRB4_uc002qgr.2_Missense_Mutation_p.P449S|LILRB4_uc010ert.2_Missense_Mutation_p.P448S|LILRB4_uc010eru.2_Missense_Mutation_p.P437S	p.P407S	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	12	1581	+			407			Cytoplasmic (Potential).		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.1219C>T	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556618	0.27827	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733	T;T;T;T;T	0.00505	7.11;7.11;7.11;6.93;7.12	2.07	2.07	0.26955	.	.	.	.	.	T	0.00906	0.0030	L	0.48935	1.535	0.20764	N	0.999854	D;D;B;B	0.76494	0.999;0.999;0.007;0.001	D;D;B;B	0.76575	0.972;0.988;0.01;0.001	T	0.57946	-0.7723	9	0.22706	T	0.39	.	7.5752	0.27931	0.0:1.0:0.0:0.0	.	354;408;406;407	A8MUE1;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	S	407;407;406;354;408	ENSP00000375616:P407S;ENSP00000270452:P407S;ENSP00000408995:P406S;ENSP00000375614:P354S;ENSP00000375613:P408S	ENSP00000270452:P407S	P	+	1	0	LILRB4	59871154	0.007000	0.16637	0.721000	0.30653	0.421000	0.31385	0.250000	0.18235	1.166000	0.42689	0.407000	0.27541	CCC		0.647	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			4	98	0	0	0	0	4	98				
ZNF446	55663	broad.mit.edu	37	19	58988810	58988810	+	Silent	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr19:58988810G>C	ENST00000594369.1	+	2	606	c.225G>C	c.(223-225)ctG>ctC	p.L75L	CTD-2619J13.23_ENST00000598051.1_RNA|ZNF446_ENST00000596341.1_Silent_p.L75L|ZNF446_ENST00000335841.4_Silent_p.L75L	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	75	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGCAGTTCCTGGGCACACTGC	0.662																																						uc002qsz.2		NA																	0				ovary(1)	1						c.(223-225)CTG>CTC		zinc finger protein 446							54.0	53.0	53.0					19																	58988810		2203	4299	6502	SO:0001819	synonymous_variant	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58988810G>C		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.225G>C	19.37:g.58988810G>C						ZNF446_uc002qta.2_Silent_p.L75L|ZNF446_uc010eur.2_Silent_p.L75L	p.L75L	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	2	342	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	75			SCAN box.			Silent	SNP	ENST00000594369.1	37	c.225G>C	CCDS12982.1																																																																																				0.662	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		28	45	0	0	0	0	28	45				
TTC27	55622	broad.mit.edu	37	2	32927945	32927945	+	Silent	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:32927945A>G	ENST00000317907.4	+	10	1422	c.1191A>G	c.(1189-1191)aaA>aaG	p.K397K		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	397										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AACTTGAGAAAGGAAGTACTC	0.438																																						uc002rom.2		NA																	0				central_nervous_system(1)	1						c.(1189-1191)AAA>AAG		tetratricopeptide repeat domain 27							142.0	134.0	137.0					2																	32927945		2203	4300	6503	SO:0001819	synonymous_variant	55622						protein binding	g.chr2:32927945A>G	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1191A>G	2.37:g.32927945A>G						TTC27_uc010ymx.1_Silent_p.K347K	p.K397K	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			10	1422	+			397					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	ENST00000317907.4	37	c.1191A>G	CCDS33176.1																																																																																				0.438	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		50	102	0	0	0	0	50	102				
CEBPZ	10153	broad.mit.edu	37	2	37455847	37455847	+	Silent	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:37455847T>C	ENST00000234170.5	-	2	634	c.489A>G	c.(487-489)aaA>aaG	p.K163K	NDUFAF7_ENST00000336237.6_5'Flank|NDUFAF7_ENST00000002125.4_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	163					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AGATGTTCTGTTTATCTTTCT	0.373																																						uc002rpz.2		NA																	0				pancreas(1)	1						c.(487-489)AAA>AAG		CCAAT/enhancer binding protein zeta							138.0	135.0	136.0					2																	37455847		2203	4300	6503	SO:0001819	synonymous_variant	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37455847T>C	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.489A>G	2.37:g.37455847T>C						C2orf56_uc010ynj.1_5'Flank|C2orf56_uc002rqa.3_5'Flank|C2orf56_uc002rqc.3_5'Flank|C2orf56_uc010ynk.1_5'Flank|C2orf56_uc010ynl.1_5'Flank	p.K163K	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN			2	519	-		all_hematologic(82;0.21)	163					Q8NE75	Silent	SNP	ENST00000234170.5	37	c.489A>G	CCDS1787.1																																																																																				0.373	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	NM_005760		50	70	0	0	0	0	50	70				
ABCG8	64241	broad.mit.edu	37	2	44079515	44079515	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:44079515T>C	ENST00000272286.2	+	5	674	c.584T>C	c.(583-585)cTg>cCg	p.L195P		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	195	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	ATCGCGGAGCTGCGGCTTAGG	0.637																																						uc002rtq.2		NA																	0				skin(3)|ovary(1)	4	GRCh37	CM021483	ABCG8	M		c.(583-585)CTG>CCG		ATP-binding cassette sub-family G member 8							38.0	42.0	40.0					2																	44079515		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44079515T>C	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.584T>C	2.37:g.44079515T>C	ENSP00000272286:p.Leu195Pro					ABCG8_uc010yoa.1_Missense_Mutation_p.L195P	p.L195P	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			5	674	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	195			ABC transporter.|Cytoplasmic (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.584T>C	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.137289	0.77775	.	.	ENSG00000143921	ENST00000272286	D	0.86230	-2.09	5.11	5.11	0.69529	ABC transporter-like (2);	0.142961	0.48286	D	0.000184	D	0.94278	0.8162	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	D	0.95314	0.8414	10	0.87932	D	0	.	14.1045	0.65080	0.0:0.0:0.0:1.0	.	195;195	Q9H221-2;Q9H221	.;ABCG8_HUMAN	P	195	ENSP00000272286:L195P	ENSP00000272286:L195P	L	+	2	0	ABCG8	43933019	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	7.423000	0.80229	1.921000	0.55644	0.459000	0.35465	CTG		0.637	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		24	31	0	0	0	0	24	31				
OTX1	5013	broad.mit.edu	37	2	63283274	63283274	+	Silent	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:63283274T>C	ENST00000282549.2	+	5	1164	c.888T>C	c.(886-888)caT>caC	p.H296H	OTX1_ENST00000366671.3_Silent_p.H296H	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	296	His-rich.				anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					accaccaccatcaccaccacc	0.642																																						uc002scd.2		NA																	0				pancreas(2)	2						c.(886-888)CAT>CAC		orthodenticle homeobox 1							99.0	75.0	83.0					2																	63283274		2203	4300	6503	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283274T>C		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.888T>C	2.37:g.63283274T>C						OTX1_uc010ypt.1_Silent_p.H230H	p.H296H	NM_014562	NP_055377	P32242	OTX1_HUMAN			5	1136	+	Lung NSC(7;0.121)|all_lung(7;0.211)		296			His-rich.		A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.888T>C	CCDS1873.1																																																																																				0.642	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			3	61	0	0	0	0	3	61				
ANKRD36B	57730	broad.mit.edu	37	2	98165918	98165918	+	RNA	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:98165918C>G	ENST00000443455.1	-	0	1551							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TTTTCTCTGGCTATATTCAAA	0.308																																						uc010yvc.1		NA																	0					0						c.(1441-1443)GCC>CCC		ankyrin repeat domain 36B							50.0	20.0	29.0					2																	98165918		1768	3814	5582			57730							g.chr2:98165918C>G	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98165918C>G						ANKRD36B_uc010yve.1_RNA	p.A481P	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN			20	1721	-			481					Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37	c.1441G>C																																																																																					0.308	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		3	36	0	0	0	0	3	36				
MRPS9	64965	broad.mit.edu	37	2	105696507	105696507	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:105696507A>T	ENST00000258455.3	+	5	586	c.476A>T	c.(475-477)tAt>tTt	p.Y159F		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	159					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CAGTCATACTATTCATTAATG	0.333																																						uc002tcn.3		NA																	0					0						c.(475-477)TAT>TTT		mitochondrial ribosomal protein S9 precursor							134.0	121.0	125.0					2																	105696507		2203	4300	6503	SO:0001583	missense	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105696507A>T		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.476A>T	2.37:g.105696507A>T	ENSP00000258455:p.Tyr159Phe						p.Y159F	NM_182640	NP_872578	P82933	RT09_HUMAN			5	544	+			159					Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	37	c.476A>T	CCDS2065.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799073	0.70567	.	.	ENSG00000135972	ENST00000258455	D	0.91894	-2.93	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.94450	0.8214	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92779	0.6239	10	0.22109	T	0.4	-16.6605	15.9892	0.80188	1.0:0.0:0.0:0.0	.	159	P82933	RT09_HUMAN	F	159	ENSP00000258455:Y159F	ENSP00000258455:Y159F	Y	+	2	0	MRPS9	105062939	1.000000	0.71417	0.634000	0.29324	0.876000	0.50452	8.165000	0.89663	2.180000	0.69256	0.533000	0.62120	TAT		0.333	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		38	60	0	0	0	0	38	60				
LRP1B	53353	broad.mit.edu	37	2	141128783	141128783	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:141128783T>A	ENST00000389484.3	-	70	11811	c.10840A>T	c.(10840-10842)Aat>Tat	p.N3614Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3614	LDL-receptor class A 28. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTCTCCATTACATTTCAAA	0.299										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10840-10842)AAT>TAT		low density lipoprotein-related protein 1B							38.0	38.0	38.0					2																	141128783		2201	4286	6487	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128783T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10840A>T	2.37:g.141128783T>A	ENSP00000374135:p.Asn3614Tyr	TSP Lung(27;0.18)					p.N3614Y	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	70	11812	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3614			Extracellular (Potential).|LDL-receptor class A 28.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10840A>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018133	0.75275	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96104	-3.91	5.2	5.2	0.72013	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.063541	0.64402	D	0.000008	D	0.98143	0.9387	H	0.95437	3.67	0.36804	D	0.885497	D	0.61080	0.989	P	0.61070	0.883	D	0.99968	1.1922	10	0.87932	D	0	.	15.3521	0.74396	0.0:0.0:0.0:1.0	.	3614	Q9NZR2	LRP1B_HUMAN	Y	3614;3552	ENSP00000374135:N3614Y	ENSP00000374135:N3614Y	N	-	1	0	LRP1B	140845253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.420000	0.44679	2.084000	0.62774	0.482000	0.46254	AAT		0.299	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		17	21	0	0	0	0	17	21				
TANC1	85461	broad.mit.edu	37	2	160053172	160053172	+	Silent	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:160053172G>T	ENST00000263635.6	+	18	3270	c.3033G>T	c.(3031-3033)cgG>cgT	p.R1011R	TANC1_ENST00000454300.1_Silent_p.R905R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1011					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GTGCCCTACGGGGCCACGGTG	0.622																																						uc002uag.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3031-3033)CGG>CGT		tetratricopeptide repeat, ankyrin repeat and							59.0	63.0	62.0					2																	160053172		2093	4206	6299	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160053172G>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3033G>T	2.37:g.160053172G>T						TANC1_uc010zcm.1_Silent_p.R1003R|TANC1_uc010fom.1_Silent_p.R817R|TANC1_uc010fon.2_5'Flank	p.R1011R	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			18	3307	+			1011			ANK 4.		C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.3033G>T	CCDS42766.1																																																																																				0.622	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			25	53	1	0	2.24e-21	2.93e-21	25	53				
WDSUB1	151525	broad.mit.edu	37	2	160139519	160139519	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:160139519G>C	ENST00000409990.3	-	2	318	c.62C>G	c.(61-63)tCc>tGc	p.S21C	WDSUB1_ENST00000409124.1_Missense_Mutation_p.S21C|WDSUB1_ENST00000392796.3_Missense_Mutation_p.S21C|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S21C|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S21C	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	21							ubiquitin-protein transferase activity (GO:0004842)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GAGGGAAAAGGAGAAGGCACA	0.413																																						uc002uaj.3		NA																	0					0						c.(61-63)TCC>TGC		WD repeat, sterile alpha motif and U-box domain							115.0	110.0	112.0					2																	160139519		2203	4300	6503	SO:0001583	missense	151525					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr2:160139519G>C	AK093494	CCDS2208.1	2q24.2	2013-01-28	2006-02-17	2005-03-25	ENSG00000196151	ENSG00000196151		"""WD repeat domain containing"", ""Sterile alpha motif (SAM) domain containing"", ""U-box domain containing"""	26697	protein-coding gene	gene with protein product			"""WD repeat and SAM domain containing 1"", ""WD repeat, SAM and U-box domain containing 1"""	WDSAM1		12477932	Standard	NM_152528		Approved	UBOX6, FLJ36175	uc002ual.4	Q8N9V3	OTTHUMG00000132028	ENST00000409990.3:c.62C>G	2.37:g.160139519G>C	ENSP00000387078:p.Ser21Cys					WDSUB1_uc002uak.3_Missense_Mutation_p.S21C|WDSUB1_uc002ual.3_Missense_Mutation_p.S21C|WDSUB1_uc002uam.3_Missense_Mutation_p.S21C|WDSUB1_uc010foo.2_Missense_Mutation_p.S21C	p.S21C	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN			2	211	-			21			WD 1.		Q53TI9|Q8N6N8	Missense_Mutation	SNP	ENST00000409990.3	37	c.62C>G	CCDS2208.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905586	0.92107	.	.	ENSG00000196151	ENST00000359774;ENST00000358147;ENST00000392796;ENST00000409990;ENST00000409124	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80417	0.4619	M	0.75884	2.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.82020	-0.0664	10	0.87932	D	0	.	19.4966	0.95075	0.0:0.0:1.0:0.0	.	21;21;21	Q8N9V3-2;B8ZZF2;Q8N9V3	.;.;WSDU1_HUMAN	C	21	ENSP00000352820:S21C;ENSP00000350866:S21C;ENSP00000376545:S21C;ENSP00000387078:S21C;ENSP00000386891:S21C	ENSP00000350866:S21C	S	-	2	0	WDSUB1	159847765	1.000000	0.71417	0.966000	0.40874	0.993000	0.82548	9.737000	0.98831	2.616000	0.88540	0.650000	0.86243	TCC		0.413	WDSUB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333339.1	NM_152528		38	42	0	0	0	0	38	42				
LRP2	4036	broad.mit.edu	37	2	170129520	170129520	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:170129520T>C	ENST00000263816.3	-	15	2318	c.2033A>G	c.(2032-2034)cAc>cGc	p.H678R	LRP2_ENST00000443831.1_Missense_Mutation_p.H609R	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	678	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATCTGTTCTGTGGCTGAGGAC	0.453																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(2032-2034)CAC>CGC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						173.0	162.0	166.0					2																	170129520		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170129520T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2033A>G	2.37:g.170129520T>C	ENSP00000263816:p.His678Arg					LRP2_uc010zdf.1_Missense_Mutation_p.H609R	p.H678R	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	15	2246	-			678			EGF-like 3.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.2033A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.966382	0.53507	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.87029	-2.2;-2.2	5.5	5.5	0.81552	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.90184	0.6932	L	0.43757	1.38	0.31559	N	0.657833	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.994	D	0.87815	0.2634	10	0.20519	T	0.43	.	15.8976	0.79346	0.0:0.0:0.0:1.0	.	609;678	E9PC35;P98164	.;LRP2_HUMAN	R	678;609	ENSP00000263816:H678R;ENSP00000409813:H609R	ENSP00000263816:H678R	H	-	2	0	LRP2	169837766	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.948000	0.87774	2.212000	0.71576	0.528000	0.53228	CAC		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		57	100	0	0	0	0	57	100				
FASTKD1	79675	broad.mit.edu	37	2	170428349	170428349	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:170428349G>C	ENST00000453153.2	-	2	537	c.191C>G	c.(190-192)tCa>tGa	p.S64*	FASTKD1_ENST00000453929.2_Nonsense_Mutation_p.S64*	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	64					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TTGCTTTTCTGAAAGTATGGC	0.378																																						uc002uev.3		NA																	0				ovary(4)	4						c.(190-192)TCA>TGA		FAST kinase domains 1							111.0	102.0	105.0					2																	170428349		2203	4300	6503	SO:0001587	stop_gained	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170428349G>C	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.191C>G	2.37:g.170428349G>C	ENSP00000400513:p.Ser64*					FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Nonsense_Mutation_p.S50*|FASTKD1_uc002uey.2_Nonsense_Mutation_p.S50*	p.S64*	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN			2	579	-			64					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Nonsense_Mutation	SNP	ENST00000453153.2	37	c.191C>G	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	G	39	7.501568	0.98322	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	.	.	.	5.37	5.37	0.77165	.	0.131361	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.3803	19.1079	0.93303	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000396769:S64X	S	-	2	0	FASTKD1	170136595	1.000000	0.71417	0.940000	0.37924	0.990000	0.78478	7.904000	0.87408	2.502000	0.84385	0.591000	0.81541	TCA		0.378	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		30	46	0	0	0	0	30	46				
COL4A4	1286	broad.mit.edu	37	2	227924929	227924929	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:227924929G>T	ENST00000396625.3	-	27	2294	c.2087C>A	c.(2086-2088)gCc>gAc	p.A696D	COL4A4_ENST00000329662.7_Missense_Mutation_p.A696D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	696	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAGCCCAGGGGCACCTTGGGG	0.428																																						uc010zlt.1		NA																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(2086-2088)GCC>GAC		alpha 4 type IV collagen precursor							86.0	86.0	86.0					2																	227924929		1845	4096	5941	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924929G>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2087C>A	2.37:g.227924929G>T	ENSP00000379866:p.Ala696Asp						p.A696D	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	27	2741	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	696			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2087C>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	5.639	0.302562	0.10678	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93547	-3.24;-3.24	5.75	2.85	0.33270	.	.	.	.	.	D	0.85371	0.5681	N	0.16903	0.455	0.09310	N	1	P	0.34864	0.473	B	0.40636	0.335	T	0.75331	-0.3355	9	0.12430	T	0.62	.	3.5234	0.07751	0.1527:0.2084:0.5172:0.1217	.	696	P53420	CO4A4_HUMAN	D	696	ENSP00000379866:A696D;ENSP00000328553:A696D	ENSP00000328553:A696D	A	-	2	0	COL4A4	227633173	0.109000	0.22037	0.608000	0.28969	0.023000	0.10783	0.638000	0.24674	1.442000	0.47568	0.655000	0.94253	GCC		0.428	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		36	88	1	0	2.1e-21	2.75e-21	36	88				
DIS3L2	129563	broad.mit.edu	37	2	233075076	233075076	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:233075076G>T	ENST00000409307.1	+	9	1165	c.1165G>T	c.(1165-1167)Gac>Tac	p.D389Y	DIS3L2_ENST00000273009.6_Missense_Mutation_p.D389Y|DIS3L2_ENST00000325385.7_Missense_Mutation_p.D389Y					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AACCGCCCGAGACCTCGATGA	0.478																																						uc010fxz.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1165-1167)GAC>TAC		DIS3 mitotic control homolog (S.							128.0	126.0	127.0					2																	233075076		2040	4195	6235	SO:0001583	missense	129563						exonuclease activity|ribonuclease activity|RNA binding	g.chr2:233075076G>T	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1165G>T	2.37:g.233075076G>T	ENSP00000386799:p.Asp389Tyr					DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	p.D389Y	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)	10	1441	+		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)	389						Missense_Mutation	SNP	ENST00000409307.1	37	c.1165G>T	CCDS42834.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242795	0.79912	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	T;T;T;T	0.61510	0.7;0.1;0.1;0.1	5.27	5.27	0.74061	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.86657	0.5985	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92353	0.5891	10	0.87932	D	0	-19.3341	15.805	0.78491	0.0:0.0:1.0:0.0	.	389	Q8IYB7	DI3L2_HUMAN	Y	389;389;389;389;389;24	ENSP00000273009:D389Y;ENSP00000315569:D389Y;ENSP00000386799:D389Y;ENSP00000415419:D24Y	ENSP00000273009:D389Y	D	+	1	0	DIS3L2	232783320	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	6.794000	0.75135	2.453000	0.82957	0.455000	0.32223	GAC		0.478	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383		16	75	1	0	6.5e-13	8.32e-13	16	75				
CDC25B	994	broad.mit.edu	37	20	3782640	3782640	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr20:3782640C>G	ENST00000245960.5	+	10	1688	c.991C>G	c.(991-993)Ccc>Gcc	p.P331A	CDC25B_ENST00000439880.2_Missense_Mutation_p.P317A|CDC25B_ENST00000344256.6_Missense_Mutation_p.P267A|CDC25B_ENST00000379598.5_Missense_Mutation_p.P240A|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.P290A	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	331					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CGTGATCCGGCCCATCCTCAA	0.652																																						uc002wjn.2		NA																	0				lung(3)|ovary(2)	5						c.(991-993)CCC>GCC		cell division cycle 25B isoform 1							25.0	23.0	23.0					20																	3782640		2202	4300	6502	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3782640C>G		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.991C>G	20.37:g.3782640C>G	ENSP00000245960:p.Pro331Ala					CDC25B_uc010zqk.1_Missense_Mutation_p.P267A|CDC25B_uc010zql.1_Missense_Mutation_p.P253A|CDC25B_uc010zqm.1_Missense_Mutation_p.P240A|CDC25B_uc002wjl.2_Missense_Mutation_p.P219A|CDC25B_uc002wjm.2_Missense_Mutation_p.P219A|CDC25B_uc002wjo.2_Missense_Mutation_p.P317A|CDC25B_uc002wjp.2_Missense_Mutation_p.P290A|CDC25B_uc002wjq.2_Missense_Mutation_p.P131A|CDC25B_uc010gbc.2_5'Flank	p.P331A	NM_021873	NP_068659	P30305	MPIP2_HUMAN			10	1769	+			331					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.991C>G	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837298	0.71373	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	4.22	4.22	0.49857	.	0.130861	0.51477	D	0.000083	T	0.51466	0.1676	M	0.62723	1.935	0.47737	D	0.999508	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.998;0.998;1.0	D;D;D;D;D;D	0.97110	0.988;0.988;0.988;0.98;0.98;1.0	T	0.50154	-0.8861	10	0.42905	T	0.14	-17.3072	14.8795	0.70522	0.0:1.0:0.0:0.0	.	240;253;267;290;317;331	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	A	267;240;331;317;290	ENSP00000339125:P267A;ENSP00000368918:P240A;ENSP00000245960:P331A;ENSP00000405972:P317A;ENSP00000339170:P290A	ENSP00000245960:P331A	P	+	1	0	CDC25B	3730640	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	2.030000	0.41108	2.288000	0.76882	0.591000	0.81541	CCC		0.652	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		3	12	0	0	0	0	3	12				
AHCY	191	broad.mit.edu	37	20	32879320	32879320	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr20:32879320C>T	ENST00000217426.2	-	5	540	c.463G>A	c.(463-465)Gag>Aag	p.E155K	AHCY_ENST00000538132.1_Missense_Mutation_p.E127K|AHCY_ENST00000468908.1_5'UTR	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	155					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTGGTCTCCTCAGAGATGCCT	0.527																																						uc002xai.2		NA																	0					0						c.(463-465)GAG>AAG		adenosylhomocysteinase isoform 1							122.0	107.0	112.0					20																	32879320		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32879320C>T	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.463G>A	20.37:g.32879320C>T	ENSP00000217426:p.Glu155Lys					AHCY_uc002xaj.2_Missense_Mutation_p.E127K	p.E155K	NM_000687	NP_000678	P23526	SAHH_HUMAN			5	602	-			155					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.463G>A	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526461	0.96431	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	D;D	0.82984	-1.67;-1.67	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.92980	0.7766	H	0.95260	3.645	0.80722	D	1	B	0.31256	0.316	P	0.47827	0.558	D	0.93200	0.6591	10	0.87932	D	0	.	19.5498	0.95312	0.0:1.0:0.0:0.0	.	155	P23526	SAHH_HUMAN	K	155;127	ENSP00000217426:E155K;ENSP00000442820:E127K	ENSP00000217426:E155K	E	-	1	0	AHCY	32342981	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.701000	0.84566	2.686000	0.91538	0.561000	0.74099	GAG		0.527	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		30	88	0	0	0	0	30	88				
PCIF1	63935	broad.mit.edu	37	20	44571864	44571864	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr20:44571864A>G	ENST00000372409.3	+	8	1166	c.802A>G	c.(802-804)Atg>Gtg	p.M268V		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	268					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCGTGAAATCATGAACGACAT	0.537																																						uc002xqs.2		NA																	0				skin(1)	1						c.(802-804)ATG>GTG		phosphorylated CTD interacting factor 1							116.0	95.0	102.0					20																	44571864		2203	4300	6503	SO:0001583	missense	63935					nucleus		g.chr20:44571864A>G	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.802A>G	20.37:g.44571864A>G	ENSP00000361486:p.Met268Val					PCIF1_uc002xqt.2_5'Flank	p.M268V	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			8	1116	+			268					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.802A>G	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056459	0.55325	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	T	0.48522	0.81	5.01	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	M	0.75264	2.295	0.50171	D	0.999851	P	0.45569	0.861	B	0.42555	0.391	T	0.55642	-0.8109	10	0.72032	D	0.01	-12.9497	11.3542	0.49607	0.8479:0.1521:0.0:0.0	.	268	Q9H4Z3	PCIF1_HUMAN	V	268	ENSP00000361486:M268V	ENSP00000361486:M268V	M	+	1	0	PCIF1	44005271	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.940000	0.70187	0.910000	0.36722	0.533000	0.62120	ATG		0.537	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		24	128	0	0	0	0	24	128				
TPTE	7179	broad.mit.edu	37	21	10933918	10933918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr21:10933918C>A	ENST00000361285.4	-	17	1290	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	TPTE_ENST00000342420.5_Nonsense_Mutation_p.E283*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Nonsense_Mutation_p.E303*	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	321	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATTTACTTCCTTGGTGAAA	0.333																																						uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(961-963)GAA>TAA		transmembrane phosphatase with tensin homology							253.0	251.0	252.0					21																	10933918		2203	4297	6500	SO:0001587	stop_gained	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10933918C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.961G>T	21.37:g.10933918C>A	ENSP00000355208:p.Glu321*					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.E303*|TPTE_uc002yir.1_Nonsense_Mutation_p.E283*|TPTE_uc010gkv.1_Nonsense_Mutation_p.E183*	p.E321*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	17	1329	-			321			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	c.961G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	35	5.538455	0.96460	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	.	.	.	2.07	2.07	0.26955	.	0.289752	0.38548	U	0.001655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-11.278	4.6962	0.12804	0.0:0.8145:0.0:0.1855	.	.	.	.	X	303;321;283	.	ENSP00000298232:E303X	E	-	1	0	TPTE	9955789	0.996000	0.38824	0.448000	0.26945	0.551000	0.35334	1.987000	0.40687	1.470000	0.48102	0.194000	0.17425	GAA		0.333	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			51	315	1	0	1.48e-19	1.93e-19	51	315				
PCNT	5116	broad.mit.edu	37	21	47817314	47817314	+	Missense_Mutation	SNP	G	G	A	rs200697914		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr21:47817314G>A	ENST00000359568.5	+	22	4459	c.4352G>A	c.(4351-4353)cGc>cAc	p.R1451H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1451					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCTCAGCATCGCGGGTGTGCC	0.567																																						uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(4351-4353)CGC>CAC		pericentrin							69.0	68.0	68.0					21																	47817314		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47817314G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4352G>A	21.37:g.47817314G>A	ENSP00000352572:p.Arg1451His					PCNT_uc002zjj.2_Missense_Mutation_p.R1333H	p.R1451H	NM_006031	NP_006022	O95613	PCNT_HUMAN			22	4459	+	Breast(49;0.112)		1451			Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.4352G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	7.428	0.638207	0.14386	.	.	ENSG00000160299	ENST00000359568	T	0.58940	0.3	5.46	-2.53	0.06326	.	1.401880	0.05386	N	0.538050	T	0.49847	0.1581	L	0.44542	1.39	0.09310	N	1	D;P	0.54964	0.969;0.947	P;B	0.45449	0.481;0.379	T	0.49204	-0.8964	10	0.59425	D	0.04	.	5.7758	0.18279	0.5255:0.0:0.3515:0.123	.	1333;1451	O95613-2;O95613	.;PCNT_HUMAN	H	1451	ENSP00000352572:R1451H	ENSP00000352572:R1451H	R	+	2	0	PCNT	46641742	0.487000	0.25988	0.000000	0.03702	0.004000	0.04260	1.143000	0.31553	-0.763000	0.04658	-1.263000	0.01449	CGC		0.567	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		29	23	0	0	0	0	29	23				
ZNF280B	140883	broad.mit.edu	37	22	22843615	22843615	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr22:22843615G>T	ENST00000406426.1	-	4	851	c.109C>A	c.(109-111)Cat>Aat	p.H37N	ZNF280B_ENST00000360412.2_Missense_Mutation_p.H37N			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TCATTTACATGTTCCACACCA	0.418																																						uc002zwc.1		NA																	0				ovary(2)	2						c.(109-111)CAT>AAT		zinc finger protein 280B							161.0	138.0	146.0					22																	22843615		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843615G>T	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.109C>A	22.37:g.22843615G>T	ENSP00000385998:p.His37Asn					LOC96610_uc011aim.1_Intron	p.H37N	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	885	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	37						Missense_Mutation	SNP	ENST00000406426.1	37	c.109C>A	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324140	0.24080	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.02916	4.11;4.11	4.15	3.05	0.35203	.	.	.	.	.	T	0.03915	0.0110	L	0.49350	1.555	0.22342	N	0.999187	B	0.16166	0.016	B	0.18263	0.021	T	0.20140	-1.0284	9	0.52906	T	0.07	.	8.647	0.34011	0.0:0.0:0.7721:0.2279	.	37	Q86YH2	Z280B_HUMAN	N	37	ENSP00000385998:H37N;ENSP00000353586:H37N	ENSP00000353586:H37N	H	-	1	0	ZNF280B	21173615	0.704000	0.27836	1.000000	0.80357	0.835000	0.47333	1.982000	0.40638	2.324000	0.78689	0.460000	0.39030	CAT		0.418	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		31	68	1	0	3.8e-20	4.97e-20	31	68				
SLC2A11	66035	broad.mit.edu	37	22	24224830	24224830	+	Silent	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr22:24224830C>T	ENST00000345044.6	+	7	1138	c.870C>T	c.(868-870)gaC>gaT	p.D290D	RN7SL268P_ENST00000491172.2_RNA|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000316185.8_Silent_p.D293D|SLC2A11_ENST00000398356.2_Silent_p.D297D|AP000350.10_ENST00000433835.3_Intron			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	290					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GCGGGAATGACTCGGTGAGAC	0.687																																						uc002zyn.3		NA																	0				ovary(1)	1						c.(868-870)GAC>GAT		glucose transporter protein 10 isoform c							23.0	20.0	21.0					22																	24224830		2203	4298	6501	SO:0001819	synonymous_variant	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24224830C>T	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.870C>T	22.37:g.24224830C>T						SLC2A11_uc002zyl.1_Silent_p.D297D|SLC2A11_uc002zym.3_Silent_p.D297D|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Silent_p.D297D|SLC2A11_uc002zyp.3_Silent_p.D293D	p.D290D	NM_001024938	NP_001020109	Q9BYW1	GTR11_HUMAN			7	969	+			290			Helical; Name=7; (Potential).		E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Silent	SNP	ENST00000345044.6	37	c.870C>T	CCDS46673.1	.	.	.	.	.	.	.	.	.	.	C	3.330	-0.136943	0.06711	.	.	ENSG00000251357	ENST00000502845	.	.	.	4.12	1.96	0.26148	.	.	.	.	.	T	0.56352	0.1979	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48980	-0.8986	4	.	.	.	.	8.4692	0.32975	0.0:0.7946:0.0:0.2054	.	.	.	.	I	62	.	.	T	+	2	0	AP000350.10	22554830	0.980000	0.34600	0.311000	0.25182	0.338000	0.28826	1.013000	0.29937	0.464000	0.27142	0.597000	0.82753	ACT		0.687	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		4	15	0	0	0	0	4	15				
MYO18B	84700	broad.mit.edu	37	22	26159338	26159338	+	Silent	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr22:26159338C>T	ENST00000407587.2	+	3	349	c.180C>T	c.(178-180)gtC>gtT	p.V60V	MYO18B_ENST00000335473.7_Silent_p.V60V|MYO18B_ENST00000536101.1_Silent_p.V60V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	60						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGTTAGCTGTCGCCTCTCCAG	0.512																																						uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(178-180)GTC>GTT		myosin XVIIIB							33.0	36.0	35.0					22																	26159338		1981	4165	6146	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26159338C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.180C>T	22.37:g.26159338C>T						MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR	p.V60V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			3	430	+			60					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.180C>T																																																																																					0.512	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		13	13	0	0	0	0	13	13				
MYO18B	84700	broad.mit.edu	37	22	26423316	26423316	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr22:26423316G>C	ENST00000407587.2	+	43	7548	c.7379G>C	c.(7378-7380)gGa>gCa	p.G2460A	MYO18B_ENST00000335473.7_Missense_Mutation_p.G2459A|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2459A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2459						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCTTGGCTGGATCAGCCAAA	0.532																																						uc003abz.1		NA																	0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(7375-7377)GGA>GCA		myosin XVIIIB							95.0	99.0	98.0					22																	26423316		1993	4154	6147	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423316G>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7379G>C	22.37:g.26423316G>C	ENSP00000386096:p.Gly2460Ala					MYO18B_uc003aca.1_Missense_Mutation_p.G2340A|MYO18B_uc010guy.1_Missense_Mutation_p.G2341A|MYO18B_uc010guz.1_Missense_Mutation_p.G2339A|MYO18B_uc011aka.1_Missense_Mutation_p.G1613A|MYO18B_uc011akb.1_Missense_Mutation_p.G1972A|MYO18B_uc010gva.1_Missense_Mutation_p.G442A|MYO18B_uc010gvb.1_RNA	p.G2459A	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	7626	+			2459					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7376G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.346|2.346	-0.350010|-0.350010	0.05173|0.05173	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.86562	.|-2.12;-2.12;-2.14	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.684338	.|0.12695	.|N	.|0.446893	T|T	0.79161|0.79161	0.4399|0.4399	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.33549	.|0.287;0.293;0.034;0.417;0.058	.|B;B;B;B;B	.|0.33620	.|0.079;0.081;0.01;0.167;0.022	T|T	0.68723|0.68723	-0.5333|-0.5333	5|10	.|0.36615	.|T	.|0.2	.|.	7.6523|7.6523	0.28354|0.28354	0.1804:0.0:0.8196:0.0|0.1804:0.0:0.8196:0.0	.|.	.|1972;2461;2459;2460;2459	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	H|A	409|2459;2459;2460	.|ENSP00000441229:G2459A;ENSP00000334563:G2459A;ENSP00000386096:G2460A	.|ENSP00000334563:G2459A	D|G	+|+	1|2	0|0	MYO18B|MYO18B	24753316|24753316	0.002000|0.002000	0.14202|0.14202	0.005000|0.005000	0.12908|0.12908	0.004000|0.004000	0.04260|0.04260	0.854000|0.854000	0.27791|0.27791	2.262000|2.262000	0.75019|0.75019	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.532	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		56	83	0	0	0	0	56	83				
MIOX	55586	broad.mit.edu	37	22	50926457	50926457	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr22:50926457G>A	ENST00000216075.6	+	4	394	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	MIOX_ENST00000395733.3_Missense_Mutation_p.R107Q|MIOX_ENST00000395732.3_Missense_Mutation_p.R107Q	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	107					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGGCATCCGGAAGGCCCAC	0.652																																						uc003bll.1		NA																	0					0						c.(319-321)CGG>CAG		myo-inositol oxygenase							44.0	42.0	42.0					22																	50926457		2203	4300	6503	SO:0001583	missense	55586				inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity	g.chr22:50926457G>A	AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"""kidney-specific protein 32"""	606774	"""aldehyde reductase (aldose reductase) like 6"""	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.320G>A	22.37:g.50926457G>A	ENSP00000216075:p.Arg107Gln					MIOX_uc003blm.1_Missense_Mutation_p.R107Q|MIOX_uc003bln.1_Missense_Mutation_p.R107Q	p.R107Q	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	434	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	107					Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	ENST00000216075.6	37	c.320G>A	CCDS14092.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258755	0.95368	.	.	ENSG00000100253	ENST00000395733;ENST00000216075;ENST00000395732;ENST00000451761	.	.	.	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	D	0.84986	0.5594	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.968	D	0.88831	0.3305	9	0.87932	D	0	-7.2951	14.1269	0.65228	0.0:0.0:1.0:0.0	.	107;107;107	Q9UGB7-2;A6PVH2;Q9UGB7	.;.;MIOX_HUMAN	Q	107;107;107;102	.	ENSP00000216075:R107Q	R	+	2	0	MIOX	49273323	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	9.203000	0.95033	2.165000	0.68154	0.491000	0.48974	CGG		0.652	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	NM_017584		15	46	0	0	0	0	15	46				
OGG1	4968	broad.mit.edu	37	3	9798304	9798304	+	Splice_Site	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:9798304G>A	ENST00000344629.7	+	5	1240	c.897G>A	c.(895-897)ctG>ctA	p.L299L	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302003.7_Splice_Site_p.L299L|OGG1_ENST00000302036.7_Splice_Site_p.L299L|OGG1_ENST00000302008.8_Splice_Site_p.L299L|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000339511.5_Splice_Site_p.L299L|OGG1_ENST00000449570.2_Splice_Site_p.L299L			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	299					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ACAAGGAACTGGGTGAGGAAA	0.582								Base excision repair (BER), DNA glycosylases																														uc003bsi.2		NA																	0					0						c.(895-897)CTG>CTA	BER_DNA_glycosylases	8-oxoguanine DNA-glycosylase 1 isoform 1a							47.0	51.0	50.0					3																	9798304		2203	4300	6503	SO:0001630	splice_region_variant	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9798304G>A	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.898+1G>A	3.37:g.9798304G>A						OGG1_uc003bsh.2_Silent_p.L299L|OGG1_uc003bsj.2_Silent_p.L299L|OGG1_uc003bsk.2_Silent_p.L299L|OGG1_uc003bsl.2_Silent_p.L299L|OGG1_uc003bsm.2_Silent_p.L299L|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Silent_p.L64L|OGG1_uc010hcm.1_Intron|OGG1_uc003bsq.1_Intron|OGG1_uc003bsr.1_Silent_p.L64L	p.L299L	NM_002542	NP_002533	O15527	OGG1_HUMAN			5	1240	+	Medulloblastoma(99;0.227)		299					A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Silent	SNP	ENST00000344629.7	37	c.897G>A	CCDS2581.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011520	0.35511	.	.	ENSG00000114026	ENST00000441094;ENST00000416333	.	.	.	5.43	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.9266	5.9924	0.19474	0.1746:0.2077:0.6176:0.0	.	.	.	.	X	197;66	.	.	W	+	2	0	OGG1	9773304	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.557000	0.23454	1.416000	0.47057	0.655000	0.94253	TGG		0.582	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821	Silent	27	8	0	0	0	0	27	8				
QRICH1	54870	broad.mit.edu	37	3	49064207	49064207	+	IGR	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:49064207C>T	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Silent_p.L244L	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCCCACACAGCAGCTGTTTCT	0.517																																						uc003cvt.2		NA																	0				lung(1)	1						c.(730-732)CTG>CTA		inosine monophosphate dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						125.0	114.0	118.0					3																	49064207		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49064207C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49064207C>T							p.L244L	NM_000884	NP_000875	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	7	824	-			244					Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	c.732G>A	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	C	8.357	0.832324	0.16820	.	.	ENSG00000178035	ENST00000429182	.	.	.	5.97	-3.31	0.04988	.	.	.	.	.	T	0.38612	0.1047	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35699	-0.9778	4	.	.	.	-13.2179	1.6229	0.02717	0.1922:0.4262:0.1877:0.1938	.	.	.	.	T	176	.	.	A	-	1	0	IMPDH2	49039211	0.057000	0.20700	0.984000	0.44739	0.994000	0.84299	-0.592000	0.05747	-0.347000	0.08299	-0.182000	0.12963	GCT		0.517	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730		113	40	0	0	0	0	113	40				
EPHA6	285220	broad.mit.edu	37	3	97202882	97202882	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:97202882A>T	ENST00000514100.1	+	7	597	c.355A>T	c.(355-357)Att>Ttt	p.I119F	EPHA6_ENST00000442602.2_Missense_Mutation_p.I93F|EPHA6_ENST00000389672.5_Missense_Mutation_p.I727F|EPHA6_ENST00000502694.1_Missense_Mutation_p.I119F	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	633	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AAGAATTCGTATTGAGAGAGT	0.358																																						uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2179-2181)ATT>TTT		EPH receptor A6 isoform a							95.0	95.0	95.0					3																	97202882		1853	4110	5963	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97202882A>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.355A>T	3.37:g.97202882A>T	ENSP00000421711:p.Ile119Phe					EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.I93F|EPHA6_uc003drs.3_Missense_Mutation_p.I119F|EPHA6_uc003drr.3_Missense_Mutation_p.I119F|EPHA6_uc003drt.2_Missense_Mutation_p.I119F|EPHA6_uc010hox.1_RNA	p.I727F	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			10	2222	+			632			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2179A>T		.	.	.	.	.	.	.	.	.	.	A	25.5	4.642955	0.87859	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.42	5.42	0.78866	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.86377	0.5918	L	0.31120	0.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.994;0.999	D	0.88278	0.2934	9	0.87932	D	0	.	15.5233	0.75881	1.0:0.0:0.0:0.0	.	93;632;119;119	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	F	727;119;119;93	ENSP00000374323:I727F;ENSP00000421711:I119F;ENSP00000423950:I119F;ENSP00000403100:I93F	ENSP00000374323:I727F	I	+	1	0	EPHA6	98685572	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.958000	0.93099	2.071000	0.62044	0.454000	0.30748	ATT		0.358	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		21	20	0	0	0	0	21	20				
POLQ	10721	broad.mit.edu	37	3	121202255	121202255	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:121202255T>A	ENST00000264233.5	-	18	6076	c.5948A>T	c.(5947-5949)gAg>gTg	p.E1983V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1983					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATAACTTTGCTCCAAGGAGAT	0.303								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(5947-5949)GAG>GTG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							61.0	62.0	61.0					3																	121202255		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121202255T>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5948A>T	3.37:g.121202255T>A	ENSP00000264233:p.Glu1983Val					POLQ_uc003eed.2_Missense_Mutation_p.E1155V	p.E1983V	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	18	6077	-			1983					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.5948A>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.999904	0.54147	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.22743	1.94	5.25	4.15	0.48705	Ribonuclease H-like (1);	0.274241	0.36854	N	0.002366	T	0.24928	0.0605	L	0.47716	1.5	0.31469	N	0.668586	D;D	0.65815	0.995;0.981	P;P	0.48921	0.593;0.595	T	0.17715	-1.0360	10	0.45353	T	0.12	.	11.8336	0.52309	0.0:0.0:0.2814:0.7186	.	1983;1155	O75417;O75417-2	DPOLQ_HUMAN;.	V	1606;1983;2119	ENSP00000264233:E1983V	ENSP00000264233:E1983V	E	-	2	0	POLQ	122684945	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.570000	0.36439	1.979000	0.57680	0.374000	0.22700	GAG		0.303	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		27	30	0	0	0	0	27	30				
PIK3R4	30849	broad.mit.edu	37	3	130452572	130452572	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:130452572G>A	ENST00000356763.3	-	4	1827	c.1270C>T	c.(1270-1272)Cat>Tat	p.H424Y		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	424					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTGCTGAAATGCAAAAGATAT	0.413																																						uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(1270-1272)CAT>TAT		phosphoinositide-3-kinase, regulatory subunit 4							107.0	100.0	102.0					3																	130452572		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452572G>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1270C>T	3.37:g.130452572G>A	ENSP00000349205:p.His424Tyr						p.H424Y	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			4	1851	-			424			HEAT 1.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.1270C>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235734	0.39498	.	.	ENSG00000196455	ENST00000356763	T	0.31510	1.49	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	L	0.37800	1.135	0.80722	D	1	B	0.24317	0.101	B	0.23018	0.043	T	0.14090	-1.0485	10	0.02654	T	1	-36.9407	20.8794	0.99867	0.0:0.0:1.0:0.0	.	424	Q99570	PI3R4_HUMAN	Y	424	ENSP00000349205:H424Y	ENSP00000349205:H424Y	H	-	1	0	PIK3R4	131935262	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	9.624000	0.98398	2.941000	0.99782	0.655000	0.94253	CAT		0.413	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		43	45	0	0	0	0	43	45				
PPP2R3A	5523	broad.mit.edu	37	3	135863925	135863925	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:135863925G>C	ENST00000264977.3	+	14	3987	c.3370G>C	c.(3370-3372)Gaa>Caa	p.E1124Q	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E503Q|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E388Q	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1124					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCTCCCTCTGAATTTGGAAA	0.358																																						uc003eqv.1		NA																	0				ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(3370-3372)GAA>CAA		protein phosphatase 2, regulatory subunit B'',							55.0	55.0	55.0					3																	135863925		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135863925G>C	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.3370G>C	3.37:g.135863925G>C	ENSP00000264977:p.Glu1124Gln					PPP2R3A_uc011blz.1_Missense_Mutation_p.E388Q|PPP2R3A_uc003eqw.1_Missense_Mutation_p.E503Q	p.E1124Q	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			14	3935	+			1124					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.3370G>C	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919543	0.73098	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.24151	3.2;1.87;2.17	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.98;0.999	P;D	0.66084	0.731;0.941	T	0.29852	-0.9998	10	0.72032	D	0.01	.	16.968	0.86291	0.0:0.0:1.0:0.0	.	503;1124	Q06190-2;Q06190	.;P2R3A_HUMAN	Q	1124;388;503	ENSP00000264977:E1124Q;ENSP00000419344:E388Q;ENSP00000334748:E503Q	ENSP00000264977:E1124Q	E	+	1	0	PPP2R3A	137346615	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.898000	0.69838	2.685000	0.91497	0.655000	0.94253	GAA		0.358	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		3	44	0	0	0	0	3	44				
XRN1	54464	broad.mit.edu	37	3	142048418	142048418	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr3:142048418T>C	ENST00000264951.4	-	37	4376	c.4259A>G	c.(4258-4260)cAt>cGt	p.H1420R	XRN1_ENST00000392981.2_Missense_Mutation_p.H1421R	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1420					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTGAACATTATGGTACTCATT	0.383																																						uc003eus.2		NA																	0				ovary(3)	3						c.(4258-4260)CAT>CGT		5'-3' exoribonuclease 1 isoform a							72.0	68.0	69.0					3																	142048418		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142048418T>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4259A>G	3.37:g.142048418T>C	ENSP00000264951:p.His1420Arg					XRN1_uc010huu.2_Missense_Mutation_p.H887R|XRN1_uc003eut.2_Missense_Mutation_p.H1420R|XRN1_uc003euu.2_Missense_Mutation_p.H1421R	p.H1420R	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			37	4326	-			1420					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.4259A>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	3.449	-0.112418	0.06881	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.29142	1.58;1.58	4.88	2.39	0.29439	.	0.643829	0.16608	N	0.207019	T	0.16599	0.0399	N	0.19112	0.55	0.31138	N	0.706992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17440	-1.0369	10	0.25751	T	0.34	-1.0124	6.0603	0.19835	0.0:0.0839:0.3127:0.6034	.	1421;1420	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	R	1420;1421	ENSP00000264951:H1420R;ENSP00000376707:H1421R	ENSP00000264951:H1420R	H	-	2	0	XRN1	143531108	0.916000	0.31088	0.181000	0.23098	0.660000	0.38997	1.296000	0.33389	0.270000	0.21984	0.482000	0.46254	CAT		0.383	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		26	26	0	0	0	0	26	26				
SPATA18	132671	broad.mit.edu	37	4	52943055	52943055	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:52943055G>T	ENST00000295213.4	+	7	1243	c.869G>T	c.(868-870)cGc>cTc	p.R290L	SPATA18_ENST00000419395.2_Missense_Mutation_p.R258L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	290	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCCCCAAACCGCTCCAAGCTG	0.682																																						uc003gzl.2		NA																	0				ovary(2)|skin(2)	4						c.(868-870)CGC>CTC		spermatogenesis associated 18 homolog							62.0	50.0	54.0					4																	52943055		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52943055G>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.869G>T	4.37:g.52943055G>T	ENSP00000295213:p.Arg290Leu					SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.R258L|SPATA18_uc003gzk.1_Missense_Mutation_p.R290L	p.R290L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		7	1147	+			290			Ser-rich.		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.869G>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448846	0.26074	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.57107	0.42;3.74	4.09	1.38	0.22167	.	0.514591	0.22469	N	0.059658	T	0.49729	0.1574	M	0.61703	1.905	0.21878	N	0.999491	P;P;P	0.47191	0.632;0.632;0.891	B;B;P	0.47044	0.202;0.202;0.535	T	0.45411	-0.9263	10	0.72032	D	0.01	-0.832	4.4178	0.11465	0.2989:0.1667:0.5344:0.0	.	258;290;290	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	L	290;258	ENSP00000295213:R290L;ENSP00000415309:R258L	ENSP00000295213:R290L	R	+	2	0	SPATA18	52637812	0.996000	0.38824	0.040000	0.18447	0.037000	0.13140	3.380000	0.52448	0.111000	0.17947	-0.379000	0.06801	CGC		0.682	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		15	28	1	0	0.000566183	0.000663279	15	28				
PRDM8	56978	broad.mit.edu	37	4	81123531	81123531	+	Silent	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:81123531C>T	ENST00000504452.1	+	8	1754	c.915C>T	c.(913-915)atC>atT	p.I305I	PRDM8_ENST00000339711.4_Silent_p.I305I|PRDM8_ENST00000415738.2_Silent_p.I305I			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	305	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCGACGGCATCGCCACGGGCG	0.746											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010ijo.2		NA																	0				skin(1)	1						c.(913-915)ATC>ATT		PR domain containing 8							4.0	5.0	5.0					4																	81123531		1413	3268	4681	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123531C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.915C>T	4.37:g.81123531C>T			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_uc003hmb.3_Silent_p.I305I|PRDM8_uc003hmc.3_Silent_p.I305I	p.I305I	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN			8	1754	+			305			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.915C>T	CCDS43243.1																																																																																				0.746	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			4	5	0	0	0	0	4	5				
FGF5	2250	broad.mit.edu	37	4	81188009	81188009	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:81188009T>C	ENST00000312465.7	+	1	257	c.31T>C	c.(31-33)Ttc>Ctc	p.F11L	FGF5_ENST00000456523.3_Missense_Mutation_p.F11L	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	11					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCTCCTCTTCTTCAGCCACCT	0.622																																						uc003hmd.2		NA																	0				ovary(1)|breast(1)	2						c.(31-33)TTC>CTC		fibroblast growth factor 5 isoform 1 precursor							40.0	45.0	43.0					4																	81188009		2201	4299	6500	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188009T>C	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.31T>C	4.37:g.81188009T>C	ENSP00000311697:p.Phe11Leu					FGF5_uc003hme.2_Missense_Mutation_p.F11L	p.F11L	NM_004464	NP_004455	P12034	FGF5_HUMAN			1	268	+			11					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.31T>C	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.452184	0.43531	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.09255	3.0;3.0	5.33	2.48	0.30137	.	0.754890	0.12249	N	0.485771	T	0.04724	0.0128	N	0.03608	-0.345	0.27270	N	0.95839	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41963	-0.9479	10	0.28530	T	0.3	.	8.0967	0.30833	0.0:0.6918:0.0:0.3082	.	11;11	P12034-2;P12034	.;FGF5_HUMAN	L	11	ENSP00000311697:F11L;ENSP00000398353:F11L	ENSP00000311697:F11L	F	+	1	0	FGF5	81407033	0.993000	0.37304	0.942000	0.38095	0.892000	0.51952	0.365000	0.20348	0.296000	0.22592	0.459000	0.35465	TTC		0.622	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			32	42	0	0	0	0	32	42				
HNRNPDL	9987	broad.mit.edu	37	4	83350560	83350560	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:83350560A>G	ENST00000295470.5	-	1	459	c.284T>C	c.(283-285)aTa>aCa	p.I95T	HNRNPDL_ENST00000502762.1_Missense_Mutation_p.I95T|HNRNPDL_ENST00000349655.4_5'UTR|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000514511.1_5'UTR|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000602300.1_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	95					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										GGAGCGTTGTATGGAGCTGGA	0.667																																						uc003hmr.2		NA																	0				skin(1)	1						c.(283-285)ATA>ACA		heterogeneous nuclear ribonucleoprotein D-like							31.0	40.0	37.0					4																	83350560		2201	4298	6499	SO:0001583	missense	9987				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83350560A>G	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.284T>C	4.37:g.83350560A>G	ENSP00000295470:p.Ile95Thr					ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.I95T	p.I95T	NM_031372	NP_112740	O14979	HNRDL_HUMAN			1	819	-		Hepatocellular(203;0.114)	95					Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.284T>C	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	a	15.48	2.847188	0.51164	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	T;T	0.66280	-0.2;-0.2	5.44	4.25	0.50352	.	0.313155	0.27420	N	0.019449	T	0.36580	0.0972	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30563	-0.9974	10	0.54805	T	0.06	.	4.4589	0.11656	0.7016:0.0:0.1471:0.1513	.	95	O14979	HNRDL_HUMAN	T	95	ENSP00000295470:I95T;ENSP00000422040:I95T	ENSP00000295470:I95T	I	-	2	0	HNRPDL	83569584	0.998000	0.40836	1.000000	0.80357	0.695000	0.40330	2.651000	0.46674	2.060000	0.61445	0.477000	0.44152	ATA		0.667	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463		19	50	0	0	0	0	19	50				
C4orf36	132989	broad.mit.edu	37	4	87809368	87809368	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:87809368G>C	ENST00000473559.1	-	6	789	c.126C>G	c.(124-126)atC>atG	p.I42M	C4orf36_ENST00000295898.3_Missense_Mutation_p.I42M|C4orf36_ENST00000503001.1_5'UTR			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	42										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AAGGCAACTTGATATTGGCTA	0.398																																						uc003hqe.3		NA																	0					0						c.(124-126)ATC>ATG		hypothetical protein LOC132989							102.0	98.0	99.0					4																	87809368		2203	4300	6503	SO:0001583	missense	132989							g.chr4:87809368G>C	BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.126C>G	4.37:g.87809368G>C	ENSP00000420949:p.Ile42Met						p.I42M	NM_144645	NP_653246	Q96KX1	CD036_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00141)	3	439	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	42						Missense_Mutation	SNP	ENST00000473559.1	37	c.126C>G	CCDS3615.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343828	0.24339	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308;ENST00000504008	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.13	2.09	0.27110	.	0.786233	0.11429	N	0.564969	T	0.33030	0.0849	L	0.29908	0.895	0.09310	N	1	P	0.48016	0.904	P	0.46253	0.509	T	0.15665	-1.0429	10	0.72032	D	0.01	-3.3504	4.562	0.12165	0.1069:0.0:0.4953:0.3979	.	42	Q96KX1	CD036_HUMAN	M	42	ENSP00000295898:I42M;ENSP00000420949:I42M;ENSP00000421141:I42M;ENSP00000422720:I42M	ENSP00000295898:I42M	I	-	3	3	C4orf36	88028392	0.053000	0.20554	0.002000	0.10522	0.096000	0.18686	1.245000	0.32790	0.670000	0.31165	-0.282000	0.10007	ATC		0.398	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253045.2	NM_144645		24	29	0	0	0	0	24	29				
MAML3	55534	broad.mit.edu	37	4	140811147	140811147	+	Silent	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:140811147G>A	ENST00000509479.2	-	2	2299	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	MAML3_ENST00000327122.5_Silent_p.L325L|MAML3_ENST00000398940.1_Silent_p.L20L	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					tctgctgcATGAGTTTGGCCC	0.577																																						uc003ihz.1		NA																	0				ovary(1)	1						c.(1441-1443)CTC>CTT		mastermind-like 3							19.0	22.0	21.0					4																	140811147		2198	4297	6495	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811147G>A	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1443C>T	4.37:g.140811147G>A						MAML3_uc011chd.1_Intron	p.L481L	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN			2	2195	-	all_hematologic(180;0.162)		481			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1443C>T	CCDS54805.1																																																																																				0.577	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			13	24	0	0	0	0	13	24				
INPP4B	8821	broad.mit.edu	37	4	143094803	143094803	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:143094803T>G	ENST00000513000.1	-	17	1774	c.1341A>C	c.(1339-1341)ttA>ttC	p.L447F	INPP4B_ENST00000308502.4_Missense_Mutation_p.L447F|INPP4B_ENST00000262992.4_Missense_Mutation_p.L447F|INPP4B_ENST00000509777.1_Missense_Mutation_p.L447F|INPP4B_ENST00000508116.1_Missense_Mutation_p.L447F	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	447					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AAAGCATCTTTAAAGAATTCT	0.388																																						uc003iix.3		NA																	0				ovary(1)|lung(1)	2						c.(1339-1341)TTA>TTC		inositol polyphosphate-4-phosphatase, type II,							160.0	157.0	158.0					4																	143094803		2203	4299	6502	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143094803T>G	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1341A>C	4.37:g.143094803T>G	ENSP00000425487:p.Leu447Phe					INPP4B_uc003iiw.3_Missense_Mutation_p.L447F|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.L262F|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.L318F	p.L447F	NM_003866	NP_003857	O15327	INP4B_HUMAN			17	1936	-	all_hematologic(180;0.158)		447					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.1341A>C	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562781	0.65538	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.71	4.52	0.55395	.	0.000000	0.64402	D	0.000001	T	0.60818	0.2298	M	0.69358	2.11	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.62746	-0.6789	10	0.62326	D	0.03	.	11.7499	0.51843	0.0:0.069:0.0:0.931	.	318;447	B7Z6T2;O15327	.;INP4B_HUMAN	F	447;447;447;318;447;447;262;262;447;318	ENSP00000425487:L447F;ENSP00000262992:L447F;ENSP00000308441:L447F;ENSP00000423954:L447F;ENSP00000422793:L447F;ENSP00000426207:L262F;ENSP00000427250:L447F;ENSP00000421065:L318F	ENSP00000262992:L447F	L	-	3	2	INPP4B	143314253	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.958000	0.40402	1.096000	0.41439	0.528000	0.53228	TTA		0.388	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		26	60	0	0	0	0	26	60				
FBXW7	55294	broad.mit.edu	37	4	153247297	153247297	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:153247297G>A	ENST00000281708.4	-	10	2734	c.1505C>T	c.(1504-1506)gCa>gTa	p.A502V	FBXW7_ENST00000296555.5_Missense_Mutation_p.A384V|FBXW7_ENST00000263981.5_Missense_Mutation_p.A422V|FBXW7_ENST00000393956.3_Missense_Mutation_p.A326V|FBXW7_ENST00000603548.1_Missense_Mutation_p.A502V|FBXW7_ENST00000603841.1_Missense_Mutation_p.A502V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	502					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCGGACTGCTGCAACATGACC	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		1	Unknown(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1504-1506)GCA>GTA		F-box and WD repeat domain containing 7 isoform							160.0	150.0	154.0					4																	153247297		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247297G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1505C>T	4.37:g.153247297G>A	ENSP00000281708:p.Ala502Val					FBXW7_uc011cii.1_Missense_Mutation_p.A502V|FBXW7_uc003imt.2_Missense_Mutation_p.A502V|FBXW7_uc011cih.1_Missense_Mutation_p.A326V|FBXW7_uc003imq.2_Missense_Mutation_p.A422V|FBXW7_uc003imr.2_Missense_Mutation_p.A384V	p.A502V	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1654	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	502			WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1505C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299984	0.81136	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046377	0.85682	D	0.000000	T	0.78635	0.4314	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.70935	0.961;0.971;0.935;0.951	T	0.79818	-0.1643	10	0.72032	D	0.01	-23.0369	20.2406	0.98372	0.0:0.0:1.0:0.0	.	326;502;384;422	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	V	502;384;422;326	ENSP00000281708:A502V;ENSP00000296555:A384V;ENSP00000263981:A422V;ENSP00000377528:A326V	ENSP00000263981:A422V	A	-	2	0	FBXW7	153466747	1.000000	0.71417	0.996000	0.52242	0.454000	0.32378	9.772000	0.98984	2.857000	0.98124	0.650000	0.86243	GCA		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			41	53	0	0	0	0	41	53				
STOX2	56977	broad.mit.edu	37	4	184931650	184931650	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:184931650G>T	ENST00000308497.4	+	3	3094	c.1659G>T	c.(1657-1659)gaG>gaT	p.E553D	STOX2_ENST00000438269.1_Missense_Mutation_p.E553D	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	553					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCTATAAAGAGGTGTGTATTC	0.522																																						uc003ivz.1		NA																	0					0						c.(1657-1659)GAG>GAT		storkhead box 2							47.0	50.0	49.0					4																	184931650		1982	4149	6131	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184931650G>T	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1659G>T	4.37:g.184931650G>T	ENSP00000311257:p.Glu553Asp					STOX2_uc003iwa.1_Missense_Mutation_p.E242D	p.E553D	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	3094	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	553					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.1659G>T	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	4.472	0.087521	0.08583	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.76968	-0.05;-1.06	5.45	-1.4	0.08968	.	0.112657	0.64402	N	0.000006	T	0.48642	0.1511	N	0.08118	0	0.26606	N	0.97293	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.35276	-0.9795	10	0.11182	T	0.66	-11.349	6.3509	0.21375	0.3164:0.3453:0.3383:0.0	.	553;553	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	D	553	ENSP00000311257:E553D;ENSP00000390127:E553D	ENSP00000311257:E553D	E	+	3	2	STOX2	185168644	1.000000	0.71417	0.939000	0.37840	0.897000	0.52465	2.333000	0.43912	-0.578000	0.05959	-0.929000	0.02709	GAG		0.522	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		18	15	1	0	3.53e-06	4.28e-06	18	15				
TLR3	7098	broad.mit.edu	37	4	187004613	187004613	+	Silent	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:187004613C>T	ENST00000296795.3	+	4	1877	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	TLR3_ENST00000504367.1_Silent_p.I314I	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	591					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TAAAGATCATCGATTTAGGAT	0.388																																						uc003iyq.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1771-1773)ATC>ATT		toll-like receptor 3 precursor							75.0	75.0	75.0					4																	187004613		2203	4300	6503	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004613C>T	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1773C>T	4.37:g.187004613C>T						TLR3_uc011ckz.1_Silent_p.I314I|TLR3_uc003iyr.2_Silent_p.I314I	p.I591I	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1874	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	591			LRR 21.|Lumenal (Potential).		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.1773C>T	CCDS3846.1																																																																																				0.388	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			30	45	0	0	0	0	30	45				
TLR3	7098	broad.mit.edu	37	4	187006008	187006008	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:187006008C>G	ENST00000296795.3	+	5	2800	c.2696C>G	c.(2695-2697)tCc>tGc	p.S899C	TLR3_ENST00000504367.1_Missense_Mutation_p.S622C	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	899					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GCACTTGGATCCAAAAACTCT	0.328																																						uc003iyq.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(2695-2697)TCC>TGC		toll-like receptor 3 precursor							56.0	58.0	57.0					4																	187006008		2203	4300	6503	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187006008C>G	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2696C>G	4.37:g.187006008C>G	ENSP00000296795:p.Ser899Cys					TLR3_uc011ckz.1_Missense_Mutation_p.S622C|TLR3_uc003iyr.2_Missense_Mutation_p.S622C	p.S899C	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	5	2797	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	899			Cytoplasmic (Potential).		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.2696C>G	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068642	0.36470	.	.	ENSG00000164342	ENST00000296795;ENST00000504367	T;T	0.02631	4.22;4.22	5.6	4.57	0.56435	Toll/interleukin-1 receptor homology (TIR) domain (2);	0.313022	0.35207	N	0.003370	T	0.06005	0.0156	M	0.75264	2.295	0.45995	D	0.998803	B	0.20671	0.047	B	0.23419	0.046	T	0.06110	-1.0845	10	0.62326	D	0.03	.	12.3937	0.55373	0.0:0.8021:0.1227:0.0752	.	899	O15455	TLR3_HUMAN	C	899;622	ENSP00000296795:S899C;ENSP00000423684:S622C	ENSP00000296795:S899C	S	+	2	0	TLR3	187243002	0.961000	0.32948	1.000000	0.80357	0.686000	0.39977	2.304000	0.43655	2.633000	0.89246	0.650000	0.86243	TCC		0.328	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			26	26	0	0	0	0	26	26				
ZFP42	132625	broad.mit.edu	37	4	188924382	188924382	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr4:188924382C>G	ENST00000326866.4	+	4	829	c.421C>G	c.(421-423)Ctt>Gtt	p.L141V	ZFP42_ENST00000509524.1_Missense_Mutation_p.L141V	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	141					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAGAATTCGCTTGAGTATTC	0.418																																						uc003izg.1		NA																	0				ovary(1)|skin(1)	2						c.(421-423)CTT>GTT		zinc finger protein 42							98.0	108.0	105.0					4																	188924382		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924382C>G	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.421C>G	4.37:g.188924382C>G	ENSP00000317686:p.Leu141Val					ZFP42_uc003izh.1_Missense_Mutation_p.L141V|ZFP42_uc003izi.1_Missense_Mutation_p.L141V	p.L141V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	666	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	141					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.421C>G	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	8.887	0.953045	0.18431	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.11277	2.79;2.79	4.09	0.209	0.15226	.	0.363323	0.27664	N	0.018379	T	0.08891	0.0220	L	0.50333	1.59	0.09310	N	1	B	0.21381	0.055	B	0.12837	0.008	T	0.21518	-1.0243	10	0.49607	T	0.09	.	5.9403	0.19189	0.0:0.5258:0.2951:0.1791	.	141	Q96MM3	ZFP42_HUMAN	V	141	ENSP00000317686:L141V;ENSP00000424662:L141V	ENSP00000317686:L141V	L	+	1	0	ZFP42	189161376	0.001000	0.12720	0.000000	0.03702	0.024000	0.10985	1.599000	0.36751	-0.005000	0.14395	0.655000	0.94253	CTT		0.418	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		50	88	0	0	0	0	50	88				
ZDHHC11	79844	broad.mit.edu	37	5	837492	837492	+	Silent	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:837492T>C	ENST00000283441.8	-	6	1271	c.888A>G	c.(886-888)aaA>aaG	p.K296K	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.K296K	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	296						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGAGAACTCCTTTGTCCATTT	0.478																																						uc011cma.1		NA																	0				skin(1)|pancreas(1)	2						c.(886-888)AAA>AAG		zinc finger, DHHC-type containing 11							312.0	292.0	299.0					5																	837492		2203	4300	6503	SO:0001819	synonymous_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:837492T>C	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.888A>G	5.37:g.837492T>C						ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA	p.K296K	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		6	1272	-			296					Q6UWR9	Silent	SNP	ENST00000283441.8	37	c.888A>G	CCDS3857.1																																																																																				0.478	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		9	301	0	0	0	0	9	301				
SLC45A2	51151	broad.mit.edu	37	5	33984637	33984637	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:33984637C>G	ENST00000296589.4	-	1	198	c.52G>C	c.(52-54)Gat>Cat	p.D18H	SLC45A2_ENST00000342059.3_Missense_Mutation_p.D18H|SLC45A2_ENST00000509381.1_Missense_Mutation_p.D18H|SLC45A2_ENST00000345083.5_Missense_Mutation_p.D18H|SLC45A2_ENST00000382102.3_Missense_Mutation_p.D18H	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	18					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GGGCCATCATCAGCTAGGGAT	0.582																																					Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(52-54)GAT>CAT		membrane-associated transporter protein isoform							55.0	56.0	55.0					5																	33984637		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33984637C>G	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.52G>C	5.37:g.33984637C>G	ENSP00000296589:p.Asp18His					SLC45A2_uc003jie.2_Missense_Mutation_p.D18H|SLC45A2_uc003jif.3_Missense_Mutation_p.D18H|SLC45A2_uc011coe.1_Missense_Mutation_p.D18H	p.D18H	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			1	144	-			18			Cytoplasmic (Potential).		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.52G>C	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102236	0.37048	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000509381;ENST00000345083	T;T;T;T	0.46063	2.21;2.22;1.48;0.88	5.26	3.14	0.36123	.	0.472195	0.24156	N	0.041038	T	0.24160	0.0585	N	0.14661	0.345	0.09310	N	1	P;B;B	0.45283	0.855;0.013;0.009	B;B;B	0.41510	0.359;0.02;0.014	T	0.06127	-1.0844	10	0.45353	T	0.12	-3.6409	6.64	0.22904	0.1286:0.6363:0.1317:0.1033	.	18;18;18	D6RGY6;Q9UMX9-4;Q9UMX9	.;.;S45A2_HUMAN	H	18	ENSP00000296589:D18H;ENSP00000341014:D18H;ENSP00000371534:D18H;ENSP00000340444:D18H	ENSP00000296589:D18H	D	-	1	0	SLC45A2	34020394	0.038000	0.19896	0.104000	0.21259	0.001000	0.01503	0.789000	0.26886	0.631000	0.30412	-0.984000	0.02558	GAT		0.582	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		18	58	0	0	0	0	18	58				
POLK	51426	broad.mit.edu	37	5	74865317	74865317	+	Splice_Site	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:74865317G>T	ENST00000241436.4	+	4	580	c.408G>T	c.(406-408)ctG>ctT	p.L136L	POLK_ENST00000508526.1_Splice_Site_p.L136L|POLK_ENST00000504026.1_Splice_Site_p.L136L|POLK_ENST00000380481.3_Splice_Site_p.L46L|POLK_ENST00000515295.1_Splice_Site_p.L136L|POLK_ENST00000352007.5_Splice_Site_p.L136L|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	136	UmuC.				DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TGAGTATGCTGGTAAGTAAAG	0.368								DNA polymerases (catalytic subunits)																														uc003kdw.2		NA																	0				ovary(2)|kidney(2)	4						c.(406-408)CTG>CTT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							83.0	75.0	78.0					5																	74865317		2203	4300	6503	SO:0001630	splice_region_variant	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74865317G>T	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.408+1G>T	5.37:g.74865317G>T						POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kdz.2_Silent_p.L136L|POLK_uc003kea.2_Silent_p.L136L|POLK_uc003keb.2_Silent_p.L136L|POLK_uc010izq.2_Silent_p.L136L|POLK_uc003kec.2_Silent_p.L46L|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Silent_p.L46L|POLK_uc003kee.2_Silent_p.L136L|POLK_uc003kef.2_Silent_p.L46L	p.L136L	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	4	504	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	136			UmuC.		B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Silent	SNP	ENST00000241436.4	37	c.408G>T	CCDS4030.1																																																																																				0.368	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218	Silent	16	11	1	0	1.34e-09	1.69e-09	16	11				
CMYA5	202333	broad.mit.edu	37	5	79033128	79033128	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:79033128C>G	ENST00000446378.2	+	2	8571	c.8540C>G	c.(8539-8541)aCa>aGa	p.T2847R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2847					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAAGGCATACAGTTCATACT	0.423																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(8539-8541)ACA>AGA		cardiomyopathy associated 5							85.0	82.0	83.0					5																	79033128		1919	4126	6045	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79033128C>G	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8540C>G	5.37:g.79033128C>G	ENSP00000394770:p.Thr2847Arg						p.T2847R	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	8612	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2847					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.8540C>G	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	7.927	0.739812	0.15642	.	.	ENSG00000164309	ENST00000446378	T	0.40476	1.03	5.93	3.24	0.37175	.	0.349556	0.25001	N	0.033911	T	0.49695	0.1572	M	0.65975	2.015	0.09310	N	1	D	0.63880	0.993	P	0.52758	0.708	T	0.43310	-0.9399	10	0.66056	D	0.02	.	8.7807	0.34789	0.0:0.7143:0.0:0.2857	.	2847	Q8N3K9	CMYA5_HUMAN	R	2847	ENSP00000394770:T2847R	ENSP00000394770:T2847R	T	+	2	0	CMYA5	79068884	0.036000	0.19791	0.012000	0.15200	0.166000	0.22503	0.142000	0.16096	0.438000	0.26450	0.655000	0.94253	ACA		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		41	25	0	0	0	0	41	25				
RGMB	285704	broad.mit.edu	37	5	98129212	98129212	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:98129212C>G	ENST00000513185.1	+	3	1505	c.1069C>G	c.(1069-1071)Caa>Gaa	p.Q357E	RGMB_ENST00000308234.7_Missense_Mutation_p.Q398E			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	357					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGCCAACACTCAATGCCATGA	0.587																																						uc003knc.2		NA																	0					0						c.(1192-1194)CAA>GAA		RGM domain family, member B							59.0	59.0	59.0					5																	98129212		2107	4232	6339	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98129212C>G	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.1069C>G	5.37:g.98129212C>G	ENSP00000423256:p.Gln357Glu						p.Q398E	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	5	1594	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	357					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.1192C>G		.	.	.	.	.	.	.	.	.	.	C	10.48	1.362945	0.24684	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.83837	-1.77;-1.77	5.62	5.62	0.85841	Repulsive guidance molecule, C-terminal (1);	0.229124	0.41001	D	0.000961	T	0.68238	0.2979	N	0.08118	0	0.32775	N	0.503297	B	0.27951	0.195	B	0.27500	0.08	T	0.73924	-0.3829	10	0.48119	T	0.1	-0.6456	12.7011	0.57034	0.2752:0.7247:0.0:0.0	.	357	Q6NW40	RGMB_HUMAN	E	398;357	ENSP00000308219:Q398E;ENSP00000423256:Q357E	ENSP00000308219:Q398E	Q	+	1	0	RGMB	98157112	0.009000	0.17119	0.026000	0.17262	0.391000	0.30476	2.412000	0.44609	2.635000	0.89317	0.655000	0.94253	CAA		0.587	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		9	11	0	0	0	0	9	11				
PCDHB10	56126	broad.mit.edu	37	5	140574507	140574507	+	Silent	SNP	C	C	T	rs374177311		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:140574507C>T	ENST00000239446.4	+	1	2566	c.2382C>T	c.(2380-2382)agC>agT	p.S794S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	794					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGAAATAGCTTTGGATTTA	0.368																																						uc003lix.2		NA																	0				ovary(1)|skin(1)	2						c.(2380-2382)AGC>AGT		protocadherin beta 10 precursor							39.0	43.0	41.0					5																	140574507		2203	4300	6503	SO:0001819	synonymous_variant	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574507C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2382C>T	5.37:g.140574507C>T							p.S794S	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2556	+			794			Cytoplasmic (Potential).		Q96T99	Silent	SNP	ENST00000239446.4	37	c.2382C>T	CCDS4252.1																																																																																				0.368	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		17	36	0	0	0	0	17	36				
PCDHB11	56125	broad.mit.edu	37	5	140580775	140580775	+	Silent	SNP	A	A	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:140580775A>C	ENST00000354757.3	+	1	1428	c.1428A>C	c.(1426-1428)acA>acC	p.T476T	PCDHB11_ENST00000536699.1_Silent_p.T111T	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	476	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGCGCTACAGACAGAGACT	0.617																																						uc003liy.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1426-1428)ACA>ACC		protocadherin beta 11 precursor							132.0	126.0	128.0					5																	140580775		2203	4298	6501	SO:0001819	synonymous_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580775A>C	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1428A>C	5.37:g.140580775A>C						PCDHB11_uc011daj.1_Silent_p.T111T	p.T476T	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1428	+			476			Extracellular (Potential).|Cadherin 5.		B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	c.1428A>C	CCDS4253.1																																																																																				0.617	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		41	207	0	0	0	0	41	207				
PCDHGA2	56113	broad.mit.edu	37	5	140719966	140719966	+	Silent	SNP	C	C	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:140719966C>A	ENST00000394576.2	+	1	1428	c.1428C>A	c.(1426-1428)gcC>gcA	p.A476A	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	476	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGACGGCCCATGACCCCG	0.542																																						uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(1426-1428)GCC>GCA		protocadherin gamma subfamily A, 2 isoform 1							97.0	104.0	102.0					5																	140719966		2203	4300	6503	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719966C>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1428C>A	5.37:g.140719966C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.A476A	p.A476A	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1613	+			476			Extracellular (Potential).|Cadherin 5.		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1428C>A	CCDS47289.1																																																																																				0.542	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		21	86	1	0	4.43e-23	5.83e-23	21	86				
ARAP3	64411	broad.mit.edu	37	5	141059694	141059694	+	Silent	SNP	G	G	A	rs201975820		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:141059694G>A	ENST00000239440.4	-	2	425	c.360C>T	c.(358-360)ctC>ctT	p.L120L	ARAP3_ENST00000508305.1_Silent_p.L42L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	120	Pro-rich.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTGGTCCCCCGAGGGCTGGGC	0.652																																						uc003llm.2		NA																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(358-360)CTC>CTT		ArfGAP with RhoGAP domain, ankyrin repeat and PH		G		1,4401	2.1+/-5.4	0,1,2200	61.0	79.0	73.0		360	2.3	0.0	5		73	0,8598		0,0,4299	no	coding-synonymous	ARAP3	NM_022481.5		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		120/1545	141059694	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141059694G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.360C>T	5.37:g.141059694G>A						ARAP3_uc003lln.2_Silent_p.L42L|ARAP3_uc003llo.1_Silent_p.L120L	p.L120L	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			2	438	-			120			Pro-rich.		B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	c.360C>T	CCDS4266.1																																																																																				0.652	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		105	41	0	0	0	0	105	41				
HFE	3077	broad.mit.edu	37	6	26091716	26091716	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:26091716A>G	ENST00000357618.5	+	3	637	c.515A>G	c.(514-516)cAc>cGc	p.H172R	HFE_ENST00000349999.4_Missense_Mutation_p.H84R|HFE_ENST00000488199.1_Missense_Mutation_p.H84R|HFE_ENST00000397022.3_Missense_Mutation_p.H149R|HFE_ENST00000309234.6_Missense_Mutation_p.H172R|HFE_ENST00000336625.8_Intron|HFE_ENST00000470149.1_Missense_Mutation_p.H172R|HFE_ENST00000317896.7_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.H172R|HFE_ENST00000352392.4_Intron|HFE_ENST00000353147.5_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	172	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGAAAGGCACAAGATTCGG	0.597									Hemochromatosis																													uc003nfx.1		NA																	0					0						c.(514-516)CAC>CGC		hemochromatosis protein isoform 1 precursor							64.0	53.0	57.0					6																	26091716		2203	4300	6503	SO:0001583	missense	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26091716A>G		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.515A>G	6.37:g.26091716A>G	ENSP00000417404:p.His172Arg					HFE_uc003nfy.1_Missense_Mutation_p.H149R|HFE_uc010jqe.1_Missense_Mutation_p.H172R|HFE_uc003nfz.1_Missense_Mutation_p.H84R|HFE_uc003ngd.1_Missense_Mutation_p.H84R|HFE_uc003nga.1_Missense_Mutation_p.H172R|HFE_uc003ngb.1_Intron|HFE_uc003ngc.1_Intron|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron	p.H172R	NM_000410	NP_000401	Q30201	HFE_HUMAN			3	675	+			172			Alpha-2.|Extracellular (Potential).		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	c.515A>G	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	A	8.093	0.775042	0.16051	.	.	ENSG00000010704	ENST00000349999;ENST00000397022;ENST00000539147;ENST00000357618;ENST00000470149;ENST00000461397;ENST00000488199;ENST00000309234	T;D;D;D;D;T;D	0.88818	3.35;-2.43;-2.43;-2.43;-2.43;3.35;-2.43	5.28	-0.697	0.11284	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	2.042380	0.02082	N	0.052405	T	0.77857	0.4193	N	0.16567	0.415	0.09310	N	1	P;D;P;P;P;P	0.67145	0.938;0.996;0.836;0.923;0.662;0.864	B;P;B;B;B;B	0.51297	0.36;0.665;0.127;0.155;0.162;0.2	T	0.71414	-0.4600	10	0.87932	D	0	.	9.5459	0.39279	0.2956:0.5822:0.0:0.1222	.	172;84;172;84;149;172	Q6B0J5;Q30201-4;Q30201-3;Q30201-2;Q30201-5;Q30201	.;.;.;.;.;HFE_HUMAN	R	84;149;67;172;172;172;84;172	ENSP00000259699:H84R;ENSP00000380217:H149R;ENSP00000417404:H172R;ENSP00000419725:H172R;ENSP00000420802:H172R;ENSP00000420559:H84R;ENSP00000311698:H172R	ENSP00000311698:H172R	H	+	2	0	HFE	26199695	0.001000	0.12720	0.000000	0.03702	0.175000	0.22909	0.337000	0.19841	0.051000	0.15978	0.533000	0.62120	CAC		0.597	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			12	33	0	0	0	0	12	33				
RGL2	5863	broad.mit.edu	37	6	33264552	33264552	+	Splice_Site	SNP	A	A	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:33264552A>C	ENST00000497454.1	-	4	737	c.242T>G	c.(241-243)gTc>gGc	p.V81G	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_5'UTR|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	81					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						AGGCATAGGGACCTGGAGAAC	0.562																																						uc003odv.2		NA																	0				skin(3)|lung(1)|breast(1)|pancreas(1)	6						c.(241-243)GTC>GGC		ral guanine nucleotide dissociation							47.0	52.0	51.0					6																	33264552		2203	4300	6503	SO:0001630	splice_region_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33264552A>C		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.241-1T>G	6.37:g.33264552A>C						RGL2_uc003odu.2_5'Flank|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_5'UTR|RGL2_uc011drb.1_5'UTR	p.V81G	NM_004761	NP_004752	O15211	RGL2_HUMAN			4	375	-			81					B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.242T>G	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	A	0.822	-0.748446	0.03065	.	.	ENSG00000237441	ENST00000497454;ENST00000425946	T	0.12361	2.69	4.22	1.33	0.21861	Ras guanine nucleotide exchange factor, domain (1);	0.335211	0.27535	N	0.018923	T	0.02610	0.0079	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34403	-0.9830	10	0.22109	T	0.4	.	6.1847	0.20490	0.3543:0.0:0.6457:0.0	.	81	O15211	RGL2_HUMAN	G	81	ENSP00000420211:V81G	ENSP00000392918:V81G	V	-	2	0	RGL2	33372530	1.000000	0.71417	0.973000	0.42090	0.077000	0.17291	1.214000	0.32419	0.405000	0.25532	-0.255000	0.11280	GTC		0.562	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2		Missense_Mutation	21	31	0	0	0	0	21	31				
MRPS10	55173	broad.mit.edu	37	6	42179587	42179587	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:42179587C>G	ENST00000053468.3	-	4	270	c.255G>C	c.(253-255)aaG>aaC	p.K85N		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	85						mitochondrion (GO:0005739)|ribosome (GO:0005840)				endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			CCAATACAGCCTTATCGTGAC	0.388																																						uc003osa.3		NA																	0					0						c.(253-255)AAG>AAC		mitochondrial ribosomal protein S10							117.0	113.0	114.0					6																	42179587		2203	4300	6503	SO:0001583	missense	55173				translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome	g.chr6:42179587C>G		CCDS4866.1	6p21.1	2012-09-13			ENSG00000048544	ENSG00000048544		"""Mitochondrial ribosomal proteins / small subunits"""	14502	protein-coding gene	gene with protein product		611976				11279123	Standard	NM_018141		Approved	FLJ10567	uc003osa.4	P82664	OTTHUMG00000014694	ENST00000053468.3:c.255G>C	6.37:g.42179587C>G	ENSP00000053468:p.Lys85Asn					MRPS10_uc011dup.1_Missense_Mutation_p.K44N	p.K85N	NM_018141	NP_060611	P82664	RT10_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)		4	301	-	Colorectal(47;0.196)		85					B2RE89|Q9H3E5|Q9NVR3	Missense_Mutation	SNP	ENST00000053468.3	37	c.255G>C	CCDS4866.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779331	0.70107	.	.	ENSG00000048544	ENST00000053468	.	.	.	5.78	5.78	0.91487	.	0.182436	0.64402	D	0.000017	T	0.58438	0.2122	L	0.54323	1.7	0.40514	D	0.980764	D	0.63880	0.993	D	0.65140	0.932	T	0.61212	-0.7108	9	0.42905	T	0.14	-11.204	8.9546	0.35809	0.0:0.8423:0.0:0.1577	.	85	P82664	RT10_HUMAN	N	85	.	ENSP00000053468:K85N	K	-	3	2	MRPS10	42287565	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.968000	0.29357	2.724000	0.93272	0.655000	0.94253	AAG		0.388	MRPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040547.1			11	31	0	0	0	0	11	31				
TDRD6	221400	broad.mit.edu	37	6	46658086	46658086	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:46658086A>G	ENST00000316081.6	+	1	2221	c.2221A>G	c.(2221-2223)Aaa>Gaa	p.K741E	RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.K741E	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	741					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTGCAGGAAAAAGTGAAAAG	0.393																																						uc003oyj.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(2221-2223)AAA>GAA		tudor domain containing 6							37.0	36.0	36.0					6																	46658086		2203	4297	6500	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658086A>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2221A>G	6.37:g.46658086A>G	ENSP00000346065:p.Lys741Glu					TDRD6_uc010jze.2_Missense_Mutation_p.K735E	p.K741E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	2221	+			741					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.2221A>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	6.214	0.407712	0.11754	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15372	2.43;2.43	5.66	4.49	0.54785	.	1.276350	0.05023	N	0.473094	T	0.05868	0.0153	L	0.53249	1.67	0.09310	N	1	B;B	0.25772	0.134;0.083	B;B	0.29862	0.108;0.05	T	0.49808	-0.8900	10	0.02654	T	1	-15.7812	7.8179	0.29271	0.847:0.0:0.153:0.0	.	741;741	F5H5M3;O60522	.;TDRD6_HUMAN	E	741	ENSP00000443299:K741E;ENSP00000346065:K741E	ENSP00000346065:K741E	K	+	1	0	TDRD6	46766045	0.001000	0.12720	0.249000	0.24280	0.010000	0.07245	0.960000	0.29253	2.153000	0.67306	0.533000	0.62120	AAA		0.393	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		10	12	0	0	0	0	10	12				
TFAP2B	7021	broad.mit.edu	37	6	50791426	50791426	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:50791426C>A	ENST00000393655.3	+	2	557	c.388C>A	c.(388-390)Ccc>Acc	p.P130T	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000263046.4_Missense_Mutation_p.P139T	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	130	Gln/Pro-rich (transactivation domain).				aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGCCGCCTTGCCCCAGCTCTC	0.721																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NA																	0					0						c.(388-390)CCC>ACC		transcription factor AP-2 beta							17.0	20.0	19.0					6																	50791426		2200	4295	6495	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50791426C>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.388C>A	6.37:g.50791426C>A	ENSP00000377265:p.Pro130Thr						p.P130T	NM_003221	NP_003212	Q92481	AP2B_HUMAN			2	554	+	Lung NSC(77;0.156)		130			Gln/Pro-rich (transactivation domain).		Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.388C>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873495	0.72180	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	T;T;T	0.76060	-0.99;-0.99;-0.99	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.60366	0.2263	L	0.52573	1.65	0.80722	D	1	P	0.41673	0.759	B	0.39027	0.288	T	0.61262	-0.7098	10	0.20046	T	0.44	-7.1566	19.32	0.94234	0.0:1.0:0.0:0.0	.	130	Q92481	AP2B_HUMAN	T	130;128;139	ENSP00000377265:P130T;ENSP00000342252:P128T;ENSP00000263046:P139T	ENSP00000263046:P139T	P	+	1	0	TFAP2B	50899385	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.861000	0.69553	2.567000	0.86603	0.563000	0.77884	CCC		0.721	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		7	5	1	0	0.00307968	0.00356809	7	5				
LYRM2	57226	broad.mit.edu	37	6	90347471	90347471	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:90347471G>A	ENST00000523377.1	-	2	212	c.176C>T	c.(175-177)gCc>gTc	p.A59V	LYRM2_ENST00000517396.1_5'UTR|LYRM2_ENST00000520318.1_Missense_Mutation_p.A59V|LYRM2_ENST00000520441.1_Missense_Mutation_p.A59V	NM_020466.4	NP_065199.1	Q9NU23	LYRM2_HUMAN	LYR motif containing 2	59						mitochondrion (GO:0005739)				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0131)		CTCTTCGGTGGCACTTTTGTT	0.363																																						uc003pnm.2		NA																	0					0						c.(175-177)GCC>GTC		LYR motif containing 2							175.0	169.0	171.0					6																	90347471		2203	4300	6503	SO:0001583	missense	57226							g.chr6:90347471G>A	BC009782	CCDS5023.1	6q15	2006-09-19			ENSG00000083099	ENSG00000083099		"""LYR motif containing"""	25229	protein-coding gene	gene with protein product						12477932	Standard	NM_020466		Approved	DJ122O8.2	uc003pnm.3	Q9NU23	OTTHUMG00000015203	ENST00000523377.1:c.176C>T	6.37:g.90347471G>A	ENSP00000430025:p.Ala59Val					LYRM2_uc010kce.1_RNA|LYRM2_uc003png.2_RNA|LYRM2_uc010kcf.1_RNA|LYRM2_uc010kcg.2_RNA|LYRM2_uc003pnl.3_RNA	p.A59V	NM_020466	NP_065199	Q9NU23	LYRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0131)	2	215	-		all_cancers(76;2.76e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;3.72e-05)|Lung NSC(302;0.238)	59					B2R4U2|E1P517	Missense_Mutation	SNP	ENST00000523377.1	37	c.176C>T	CCDS5023.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576735	0.65878	.	.	ENSG00000083099	ENST00000520441;ENST00000523377;ENST00000520318	T;T;T	0.64260	-0.09;-0.09;-0.09	6.03	5.17	0.71159	.	0.115305	0.64402	D	0.000019	T	0.35038	0.0918	.	.	.	0.49051	D	0.999741	B	0.24618	0.107	B	0.26693	0.072	T	0.24048	-1.0171	9	0.24483	T	0.36	.	13.7035	0.62624	0.0708:0.0:0.9292:0.0	.	59	Q9NU23	LYRM2_HUMAN	V	59	ENSP00000427859:A59V;ENSP00000430025:A59V;ENSP00000428207:A59V	ENSP00000430316:A59V	A	-	2	0	LYRM2	90404192	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	5.208000	0.65203	1.573000	0.49748	0.557000	0.71058	GCC		0.363	LYRM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041498.2	NM_020466		5	221	0	0	0	0	5	221				
MDN1	23195	broad.mit.edu	37	6	90409446	90409446	+	Splice_Site	SNP	T	T	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:90409446T>A	ENST00000369393.3	-	58	8986	c.8871A>T	c.(8869-8871)agA>agT	p.R2957S	MDN1_ENST00000428876.1_Splice_Site_p.R2957S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2957					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTTGCTGCATCTGTTCCAAA	0.408																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(8869-8871)AGA>AGT		MDN1, midasin homolog							118.0	118.0	118.0					6																	90409446		2203	4300	6503	SO:0001630	splice_region_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90409446T>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8871-1A>T	6.37:g.90409446T>A							p.R2957S	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	58	8987	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2957					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.8871A>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	9.308	1.054814	0.19907	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03124	4.04;4.04	5.92	2.17	0.27698	.	0.389396	0.27424	N	0.019437	T	0.00906	0.0030	L	0.29908	0.895	0.29182	N	0.876468	B	0.20052	0.041	B	0.19391	0.025	T	0.48896	-0.8994	10	0.18276	T	0.48	.	8.6271	0.33897	0.0:0.693:0.0:0.307	.	2957	Q9NU22	MDN1_HUMAN	S	2957	ENSP00000358400:R2957S;ENSP00000413970:R2957S	ENSP00000358400:R2957S	R	-	3	2	MDN1	90466167	0.842000	0.29525	0.023000	0.16930	0.011000	0.07611	1.302000	0.33459	0.112000	0.17975	-0.899000	0.02877	AGA		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		Missense_Mutation	31	38	0	0	0	0	31	38				
RSPH4A	345895	broad.mit.edu	37	6	116953560	116953560	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:116953560G>A	ENST00000229554.5	+	6	2244	c.2107G>A	c.(2107-2109)Gaa>Aaa	p.E703K	RSPH4A_ENST00000368581.4_3'UTR|RSPH4A_ENST00000368580.4_Missense_Mutation_p.E456K	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	703					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGCTGAGAATGAAGAATCTGA	0.428									Kartagener syndrome																													uc003pxe.2		NA																	0					0						c.(2107-2109)GAA>AAA		radial spoke head 4 homolog A isoform 1							68.0	66.0	66.0					6																	116953560		2203	4300	6503	SO:0001583	missense	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116953560G>A		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.2107G>A	6.37:g.116953560G>A	ENSP00000229554:p.Glu703Lys					RSPH4A_uc010kee.2_3'UTR	p.E703K	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			6	2252	+			703					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.2107G>A	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381808	0.61845	.	.	ENSG00000111834	ENST00000229554;ENST00000447842;ENST00000368580	T;T	0.35236	1.32;1.33	5.77	4.9	0.64082	.	0.142767	0.64402	N	0.000008	T	0.22704	0.0548	M	0.77103	2.36	0.80722	D	1	B	0.32653	0.379	B	0.26517	0.07	T	0.05954	-1.0854	10	0.31617	T	0.26	-7.735	12.6093	0.56542	0.08:0.0:0.92:0.0	.	703	Q5TD94	RSH4A_HUMAN	K	703;498;456	ENSP00000229554:E703K;ENSP00000357569:E456K	ENSP00000229554:E703K	E	+	1	0	RSPH4A	117060253	0.997000	0.39634	0.864000	0.33941	0.984000	0.73092	2.337000	0.43947	1.440000	0.47531	0.655000	0.94253	GAA		0.428	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		13	24	0	0	0	0	13	24				
BCLAF1	9774	broad.mit.edu	37	6	136597187	136597187	+	Silent	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:136597187T>C	ENST00000531224.1	-	5	1728	c.1476A>G	c.(1474-1476)aaA>aaG	p.K492K	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Silent_p.K490K|BCLAF1_ENST00000353331.4_Silent_p.K490K|BCLAF1_ENST00000527536.1_Silent_p.K492K|BCLAF1_ENST00000527759.1_Silent_p.K490K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	492					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K492K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTGAGTTTCTTTCTTTACTG	0.378																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(1)	1						c.(1474-1476)AAA>AAG		BCL2-associated transcription factor 1 isoform							181.0	189.0	187.0					6																	136597187		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597187T>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1476A>G	6.37:g.136597187T>C						BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.K490K|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.K490K	p.K492K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1729	-	Colorectal(23;0.24)		492					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.1476A>G	CCDS5177.1																																																																																				0.378	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		31	201	0	0	0	0	31	201				
ARID1B	57492	broad.mit.edu	37	6	157522507	157522507	+	Silent	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:157522507C>T	ENST00000350026.5	+	17	4741	c.4740C>T	c.(4738-4740)acC>acT	p.T1580T	ARID1B_ENST00000367148.1_Silent_p.T1633T|ARID1B_ENST00000275248.4_Silent_p.T1575T|ARID1B_ENST00000346085.5_Silent_p.T1593T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1580	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCAGGTCACCGGGCCACCAC	0.547																																						uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(4723-4725)ACC>ACT		AT rich interactive domain 1B (SWI1-like)							117.0	110.0	112.0					6																	157522507		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157522507C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4740C>T	6.37:g.157522507C>T						ARID1B_uc003qqo.2_Silent_p.T1535T|ARID1B_uc003qqp.2_Silent_p.T1522T	p.T1575T	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4877	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1580			Pro-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.4725C>T	CCDS5251.2																																																																																				0.547	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		45	130	0	0	0	0	45	130				
CDK13	8621	broad.mit.edu	37	7	40027286	40027286	+	Missense_Mutation	SNP	C	C	T	rs371566821		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr7:40027286C>T	ENST00000181839.4	+	2	1905	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	CDK13_ENST00000340829.5_Missense_Mutation_p.R434C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	434					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATCCAGAAGTCGTCATTCTAG	0.463																																						uc003thh.3		NA																	0				lung(2)|skin(2)|ovary(1)	5						c.(1300-1302)CGT>TGT		cell division cycle 2-like 5 isoform 1		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	83.0	79.0	81.0		1300,1300	5.9	1.0	7		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDK13	NM_003718.4,NM_031267.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	434/1513,434/1453	40027286	1,13005	2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40027286C>T	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1300C>T	7.37:g.40027286C>T	ENSP00000181839:p.Arg434Cys					CDK13_uc003thi.3_Missense_Mutation_p.R434C|CDK13_uc011kbf.1_5'UTR	p.R434C	NM_003718	NP_003709	Q14004	CDK13_HUMAN			2	1582	+			434					Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.1300C>T	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254244	0.59212	0.0	1.16E-4	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.71341	-0.56;-0.56	5.95	5.95	0.96441	.	.	.	.	.	T	0.78091	0.4229	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75193	-0.3404	8	.	.	.	-9.6714	15.1351	0.72558	0.1413:0.8587:0.0:0.0	.	434;434	Q14004-2;Q14004	.;CDK13_HUMAN	C	434	ENSP00000181839:R434C;ENSP00000340557:R434C	.	R	+	1	0	CDK13	39993811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.951000	0.63610	2.826000	0.97356	0.563000	0.77884	CGT		0.463	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		25	33	0	0	0	0	25	33				
STEAP2	261729	broad.mit.edu	37	7	89859238	89859238	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr7:89859238A>G	ENST00000287908.3	+	4	1466	c.1073A>G	c.(1072-1074)gAa>gGa	p.E358G	STEAP2_ENST00000394621.2_Missense_Mutation_p.E358G|STEAP2_ENST00000394626.1_Missense_Mutation_p.E358G|STEAP2_ENST00000394622.2_Missense_Mutation_p.E358G|STEAP2_ENST00000402625.2_Missense_Mutation_p.E358G|STEAP2_ENST00000394629.2_Missense_Mutation_p.E358G|STEAP2_ENST00000394632.1_Missense_Mutation_p.E358G	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	358	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TGGAGAATTGAAATGTATATC	0.373																																						uc003ujz.2		NA																	0				ovary(2)	2						c.(1072-1074)GAA>GGA		six transmembrane epithelial antigen of the							153.0	156.0	155.0					7																	89859238		2203	4300	6503	SO:0001583	missense	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89859238A>G	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1073A>G	7.37:g.89859238A>G	ENSP00000287908:p.Glu358Gly					STEAP2_uc010len.2_Missense_Mutation_p.E358G|STEAP2_uc003uka.2_Missense_Mutation_p.E358G|STEAP2_uc003ukb.2_Missense_Mutation_p.E358G|STEAP2_uc003ukc.2_Missense_Mutation_p.E358G|STEAP2_uc003ukd.2_Missense_Mutation_p.E358G	p.E358G	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN			4	1466	+	all_hematologic(106;0.112)		358			Ferric oxidoreductase.		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	c.1073A>G	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.010216	0.93346	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	D;D;D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	5.93	5.93	0.95920	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.95271	0.8466	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.95680	0.8731	10	0.87932	D	0	-17.8766	16.3839	0.83495	1.0:0.0:0.0:0.0	.	358;358;358	G5E9C6;Q6YPB2;Q8NFT2	.;.;STEA2_HUMAN	G	358	ENSP00000287908:E358G;ENSP00000378123:E358G;ENSP00000378120:E358G;ENSP00000378128:E358G;ENSP00000378119:E358G;ENSP00000384191:E358G;ENSP00000378125:E358G	ENSP00000287908:E358G	E	+	2	0	STEAP2	89697174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.258000	0.74832	0.533000	0.62120	GAA		0.373	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		3	126	0	0	0	0	3	126				
ZAN	7455	broad.mit.edu	37	7	100348484	100348484	+	RNA	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr7:100348484G>A	ENST00000348028.3	+	0	1651				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GAACACCTCCGTCACCGTCCC	0.632																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(1486-1488)GTC>ATC		zonadhesin isoform 3							31.0	33.0	32.0					7																	100348484		1973	4141	6114			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100348484G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100348484G>A						ZAN_uc003uwk.2_Missense_Mutation_p.V496I|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.V496I	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		12	1651	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		496			MAM 3.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.1486G>A		.	.	.	.	.	.	.	.	.	.	G	3.959	-0.010787	0.07727	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02446	4.29;4.29;4.29	4.24	-7.1	0.01547	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	2.121860	0.02402	N	0.080722	T	0.03263	0.0095	L	0.35542	1.07	0.30123	N	0.805532	B;B	0.17852	0.019;0.024	B;B	0.16722	0.009;0.016	T	0.31447	-0.9943	10	0.51188	T	0.08	.	12.3691	0.55244	0.3953:0.0:0.6047:0.0	.	496;496	F5H0T8;Q9Y493	.;ZAN_HUMAN	I	496	ENSP00000445943:V496I;ENSP00000445091:V496I;ENSP00000444427:V496I	ENSP00000423579:V496I	V	+	1	0	ZAN	100186420	0.001000	0.12720	0.002000	0.10522	0.018000	0.09664	-0.611000	0.05622	-1.457000	0.01919	-2.107000	0.00358	GTC		0.632	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		13	64	0	0	0	0	13	64				
PRSS58	136541	broad.mit.edu	37	7	141955074	141955074	+	Silent	SNP	C	C	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr7:141955074C>A	ENST00000552471.1	-	3	556	c.237G>T	c.(235-237)ctG>ctT	p.L79L	PRSS58_ENST00000547058.2_Silent_p.L79L			Q8IYP2	PRS58_HUMAN	protease, serine, 58	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CAATCACTTGCAGATGCTTTT	0.413																																						uc003vxb.2		NA																	0					0						c.(235-237)CTG>CTT		trypsin X3 precursor							177.0	161.0	166.0					7																	141955074		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955074C>A		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.237G>T	7.37:g.141955074C>A						TRYX3_uc003vxc.3_Silent_p.L79L	p.L79L	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN			3	557	-	Melanoma(164;0.0272)		79			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.237G>T	CCDS5871.1																																																																																				0.413	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		36	16	1	0	3.76e-14	4.86e-14	36	16				
KMT2C	58508	broad.mit.edu	37	7	151921619	151921619	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr7:151921619C>A	ENST00000262189.6	-	19	3277	c.3059G>T	c.(3058-3060)gGa>gTa	p.G1020V	KMT2C_ENST00000355193.2_Missense_Mutation_p.G1020V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1020					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAGGAGTCTTCCTGGGTCAGT	0.488																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(3058-3060)GGA>GTA		myeloid/lymphoid or mixed-lineage leukemia 3							37.0	33.0	34.0					7																	151921619		2203	4297	6500	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151921619C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3059G>T	7.37:g.151921619C>A	ENSP00000262189:p.Gly1020Val					MLL3_uc003wkz.2_Missense_Mutation_p.G81V	p.G1020V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	19	3278	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1020			PHD-type 5.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3059G>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.87|17.87	3.494336|3.494336	0.64186|0.64186	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.89270|.	-2.49;-2.49|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.45361|.	D|.	0.000375|.	D|D	0.85182|0.85182	0.5638|0.5638	M|M	0.90922|0.90922	3.16|3.16	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.88774|0.88774	0.3266|0.3266	10|5	0.72032|.	D|.	0.01|.	.|.	17.9358|17.9358	0.89012|0.89012	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1020;81|.	Q8NEZ4;Q8NEZ4-2|.	MLL3_HUMAN;.|.	V|S	1020|175	ENSP00000262189:G1020V;ENSP00000347325:G1020V|.	ENSP00000262189:G1020V|.	G|R	-|-	2|3	0|2	MLL3|MLL3	151552552|151552552	1.000000|1.000000	0.71417|0.71417	0.943000|0.943000	0.38184|0.38184	0.995000|0.995000	0.86356|0.86356	7.767000|7.767000	0.85331|0.85331	2.236000|2.236000	0.73375|0.73375	0.650000|0.650000	0.86243|0.86243	GGA|AGG		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			13	13	1	0	0.00400662	0.00463183	13	13				
PRKDC	5591	broad.mit.edu	37	8	48697813	48697813	+	Silent	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:48697813G>A	ENST00000314191.2	-	78	11021	c.10965C>T	c.(10963-10965)ctC>ctT	p.L3655L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L3655L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3656					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGAAGTCACTGAGCTTCATTC	0.363								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(10966-10968)CTC>CTT	NHEJ	protein kinase, DNA-activated, catalytic							77.0	73.0	74.0					8																	48697813		1820	4084	5904	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48697813G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10965C>T	8.37:g.48697813G>A						PRKDC_uc003xqj.2_Silent_p.L3656L|PRKDC_uc011ldh.1_Intron	p.L3656L	NM_006904	NP_008835	P78527	PRKDC_HUMAN			78	11025	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3656					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.10968C>T																																																																																					0.363	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		12	33	0	0	0	0	12	33				
KCNB2	9312	broad.mit.edu	37	8	73480238	73480238	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:73480238A>G	ENST00000523207.1	+	2	857	c.269A>G	c.(268-270)gAt>gGt	p.D90G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	90					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TATTTCTTTGATCGGCATCCA	0.493																																						uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(268-270)GAT>GGT		potassium voltage-gated channel, Shab-related							83.0	82.0	82.0					8																	73480238		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480238A>G	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.269A>G	8.37:g.73480238A>G	ENSP00000430846:p.Asp90Gly						p.D90G	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	857	+	Breast(64;0.137)		90			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.269A>G	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.773906	0.90108	.	.	ENSG00000182674	ENST00000523207	D	0.85411	-1.98	5.93	5.93	0.95920	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.175924	0.26844	U	0.022209	D	0.95996	0.8696	H	0.99357	4.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97860	1.0280	10	0.87932	D	0	.	16.0678	0.80897	1.0:0.0:0.0:0.0	.	90	Q92953	KCNB2_HUMAN	G	90	ENSP00000430846:D90G	ENSP00000430846:D90G	D	+	2	0	KCNB2	73642792	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	GAT		0.493	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		33	91	0	0	0	0	33	91				
JPH1	56704	broad.mit.edu	37	8	75233253	75233253	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:75233253G>C	ENST00000342232.4	-	1	310	c.270C>G	c.(268-270)ttC>ttG	p.F90L		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	90	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AGCGCCCCTTGAAACCATGTG	0.667																																						uc003yae.2		NA																	0				ovary(1)	1						c.(268-270)TTC>TTG		junctophilin 1							93.0	55.0	68.0					8																	75233253		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75233253G>C	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.270C>G	8.37:g.75233253G>C	ENSP00000344488:p.Phe90Leu					JPH1_uc003yaf.2_Missense_Mutation_p.F90L|JPH1_uc003yag.1_Intron	p.F90L	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		1	310	-	Breast(64;0.00576)		90			Gly-rich.|Cytoplasmic (Potential).		B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.270C>G	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	g	18.02	3.531158	0.64972	.	.	ENSG00000104369	ENST00000342232	T	0.39229	1.09	4.3	3.42	0.39159	.	0.103027	0.64402	D	0.000002	T	0.37046	0.0989	N	0.11789	0.175	0.80722	D	1	D	0.65815	0.995	P	0.61592	0.891	T	0.06643	-1.0815	10	0.12103	T	0.63	.	11.6323	0.51183	0.0878:0.0:0.9122:0.0	.	90	Q9HDC5	JPH1_HUMAN	L	90	ENSP00000344488:F90L	ENSP00000344488:F90L	F	-	3	2	JPH1	75395808	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.302000	0.33459	1.003000	0.39130	0.401000	0.26515	TTC		0.667	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			9	52	0	0	0	0	9	52				
ZFHX4	79776	broad.mit.edu	37	8	77764911	77764911	+	Silent	SNP	T	T	C			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:77764911T>C	ENST00000521891.2	+	10	6202	c.5754T>C	c.(5752-5754)ttT>ttC	p.F1918F	ZFHX4_ENST00000050961.6_Silent_p.F1873F|ZFHX4_ENST00000518282.1_Silent_p.F1892F|ZFHX4_ENST00000455469.2_Silent_p.F1873F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1873					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTTGGTTTTGAACTGGTCA	0.448										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(5617-5619)TTT>TTC		zinc finger homeodomain 4							36.0	33.0	33.0					8																	77764911		1907	4128	6035	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764911T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5754T>C	8.37:g.77764911T>C		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.F1918F|ZFHX4_uc003yaw.1_Silent_p.F1873F	p.F1873F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6006	+			1873					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.5619T>C	CCDS47878.2																																																																																				0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		13	47	0	0	0	0	13	47				
WWP1	11059	broad.mit.edu	37	8	87414410	87414410	+	Silent	SNP	A	A	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:87414410A>G	ENST00000517970.1	+	8	1009	c.702A>G	c.(700-702)gcA>gcG	p.A234A	WWP1_ENST00000341922.2_Intron|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Silent_p.A234A	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	234					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AACCACTCGCATCTGAGCCTG	0.448																																						uc003ydt.2		NA																	0				lung(1)|liver(1)	2						c.(700-702)GCA>GCG		WW domain containing E3 ubiquitin protein ligase							65.0	55.0	59.0					8																	87414410		2203	4300	6503	SO:0001819	synonymous_variant	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87414410A>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.702A>G	8.37:g.87414410A>G						WWP1_uc010mai.2_Intron	p.A234A	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN			8	982	+			234					O00307|Q5YLC1|Q96BP4	Silent	SNP	ENST00000517970.1	37	c.702A>G	CCDS6242.1																																																																																				0.448	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		15	27	0	0	0	0	15	27				
RUNX1T1	862	broad.mit.edu	37	8	92983007	92983007	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:92983007C>T	ENST00000523629.1	-	11	1872	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R484Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R473Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R436Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	473					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTGGGCTTTCCGCTCCGCCTC	0.617																																						uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1417-1419)CGG>CAG		acute myelogenous leukemia 1 translocation 1							87.0	69.0	75.0					8																	92983007		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92983007C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1418G>A	8.37:g.92983007C>T	ENSP00000428543:p.Arg473Gln					RUNX1T1_uc003yfc.1_Missense_Mutation_p.R446Q|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R436Q|RUNX1T1_uc010mao.2_Missense_Mutation_p.R446Q|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R484Q|RUNX1T1_uc010man.1_Missense_Mutation_p.R98Q|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R436Q	p.R473Q	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		10	1502	-			473					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1418G>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672112	0.88348	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	L	0.39326	1.205	0.80722	D	1	B;P;B;P	0.45827	0.285;0.824;0.44;0.867	B;B;B;B	0.41412	0.044;0.356;0.02;0.249	T	0.11591	-1.0581	10	0.07990	T	0.79	-15.8283	20.2182	0.98305	0.0:1.0:0.0:0.0	.	484;436;473;446	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	Q	473;446;473;436;436;436;484;446	ENSP00000428543:R473Q;ENSP00000379520:R446Q;ENSP00000265814:R473Q;ENSP00000353504:R436Q;ENSP00000390137:R436Q;ENSP00000428742:R436Q;ENSP00000402257:R484Q;ENSP00000430728:R446Q	ENSP00000265814:R473Q	R	-	2	0	RUNX1T1	93052183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	CGG		0.617	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		27	29	0	0	0	0	27	29				
PKHD1L1	93035	broad.mit.edu	37	8	110416786	110416786	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:110416786C>G	ENST00000378402.5	+	15	1481	c.1377C>G	c.(1375-1377)taC>taG	p.Y459*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	459					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTCCAGATACTATATTGAAA	0.299										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(1375-1377)TAC>TAG		fibrocystin L precursor							72.0	68.0	69.0					8																	110416786		1824	4084	5908	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110416786C>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1377C>G	8.37:g.110416786C>G	ENSP00000367655:p.Tyr459*	HNSCC(38;0.096)					p.Y459*	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		15	1481	+			459			Extracellular (Potential).		Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.1377C>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	36	5.951868	0.97139	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.45	3.07	0.35406	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3179	0.26511	0.0:0.1766:0.0:0.8234	.	.	.	.	X	459	.	ENSP00000367655:Y459X	Y	+	3	2	PKHD1L1	110485962	0.998000	0.40836	1.000000	0.80357	0.814000	0.46013	0.205000	0.17356	0.447000	0.26695	-0.295000	0.09555	TAC		0.299	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		9	16	0	0	0	0	9	16				
ENPP2	5168	broad.mit.edu	37	8	120596204	120596204	+	Nonsense_Mutation	SNP	G	G	A	rs570331954		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:120596204G>A	ENST00000075322.6	-	16	1511	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	ENPP2_ENST00000259486.6_Nonsense_Mutation_p.Q537*|ENPP2_ENST00000522167.1_Nonsense_Mutation_p.Q124*|ENPP2_ENST00000427067.2_Nonsense_Mutation_p.Q481*|ENPP2_ENST00000522826.1_Nonsense_Mutation_p.Q485*	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	485					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATCATACCTGCATGCTGTTG	0.363																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(1453-1455)CAG>TAG		autotaxin isoform 2 preproprotein							235.0	229.0	231.0					8																	120596204		2203	4300	6503	SO:0001587	stop_gained	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120596204G>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1453C>T	8.37:g.120596204G>A	ENSP00000075322:p.Gln485*					ENPP2_uc011lic.1_Nonsense_Mutation_p.Q2*|ENPP2_uc003yor.1_Nonsense_Mutation_p.Q124*|ENPP2_uc003yos.1_Nonsense_Mutation_p.Q537*|ENPP2_uc010mdd.1_Nonsense_Mutation_p.Q485*	p.Q485*	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		16	1539	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		485					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Nonsense_Mutation	SNP	ENST00000075322.6	37	c.1453C>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	G	37	6.118898	0.97300	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	.	.	.	5.6	5.6	0.85130	.	0.055024	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.6247	0.95672	0.0:0.0:1.0:0.0	.	.	.	.	X	537;481;124;485;485	.	ENSP00000075322:Q485X	Q	-	1	0	ENPP2	120665385	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.625000	0.74248	2.614000	0.88457	0.561000	0.74099	CAG		0.363	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			81	249	0	0	0	0	81	249				
FAM135B	51059	broad.mit.edu	37	8	139160898	139160898	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:139160898C>G	ENST00000395297.1	-	14	3483	c.3313G>C	c.(3313-3315)Gaa>Caa	p.E1105Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1105										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCTTCAGTTCTTTTTTAAAT	0.368										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(3313-3315)GAA>CAA		hypothetical protein LOC51059							49.0	49.0	49.0					8																	139160898		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139160898C>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3313G>C	8.37:g.139160898C>G	ENSP00000378710:p.Glu1105Gln	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.E1006Q|FAM135B_uc003yuz.2_Intron|FAM135B_uc003yva.2_Missense_Mutation_p.E667Q|FAM135B_uc003yvb.2_Intron	p.E1105Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		14	3484	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1105					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3313G>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	9.100	1.003891	0.19199	.	.	ENSG00000147724	ENST00000395297	T	0.14391	2.51	5.78	5.78	0.91487	.	0.112601	0.64402	D	0.000016	T	0.16685	0.0401	L	0.33710	1.025	0.47276	D	0.999372	D;B	0.60575	0.988;0.256	P;B	0.51550	0.673;0.09	T	0.01316	-1.1387	10	0.02654	T	1	-17.1695	19.0057	0.92849	0.0:1.0:0.0:0.0	.	1105;1105	Q49AJ0-4;Q49AJ0	.;F135B_HUMAN	Q	1105	ENSP00000378710:E1105Q	ENSP00000378710:E1105Q	E	-	1	0	FAM135B	139230080	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.946000	0.56644	2.730000	0.93505	0.650000	0.86243	GAA		0.368	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		10	55	0	0	0	0	10	55				
NAPRT	93100	broad.mit.edu	37	8	144658617	144658617	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:144658617C>T	ENST00000449291.2	-	7	1301	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	NAPRT1_ENST00000276844.7_Missense_Mutation_p.R336Q|NAPRT1_ENST00000435154.3_Missense_Mutation_p.R336Q|NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.R336Q																endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGCAGCAGCTCGGAAGACCTT	0.652																																						uc003yym.3		NA																	0				ovary(1)	1						c.(1006-1008)CGA>CAA		nicotinate phosphoribosyltransferase domain							36.0	39.0	38.0					8																	144658617		2200	4300	6500	SO:0001583	missense	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144658617C>T																												ENST00000449291.2:c.1007G>A	8.37:g.144658617C>T	ENSP00000401508:p.Arg336Gln					NAPRT1_uc003yyn.3_Missense_Mutation_p.R336Q|NAPRT1_uc011lkh.1_Missense_Mutation_p.R336Q|NAPRT1_uc003yyo.3_Missense_Mutation_p.R336Q	p.R336Q	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	1032	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		336						Missense_Mutation	SNP	ENST00000449291.2	37	c.1007G>A	CCDS6403.2	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980415	0.34942	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.43294	0.97;0.97;0.95;0.97;0.97	4.32	4.32	0.51571	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.125659	0.51477	D	0.000081	T	0.48589	0.1508	L	0.51853	1.615	0.41251	D	0.986714	D;B;D;D	0.71674	0.998;0.123;0.998;0.998	P;B;P;P	0.62560	0.851;0.04;0.845;0.904	T	0.38045	-0.9679	10	0.12766	T	0.61	-11.7773	9.8128	0.40833	0.0:0.9001:0.0:0.0999	.	336;336;336;336	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	Q	336	ENSP00000405670:R336Q;ENSP00000401508:R336Q;ENSP00000341136:R336Q;ENSP00000390949:R336Q;ENSP00000276844:R336Q	ENSP00000276844:R336Q	R	-	2	0	NAPRT1	144729760	0.199000	0.23386	0.013000	0.15412	0.014000	0.08584	0.694000	0.25512	2.205000	0.71048	0.643000	0.83706	CGA		0.652	NAPRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346708.3			18	40	0	0	0	0	18	40				
KIFC2	90990	broad.mit.edu	37	8	145698668	145698668	+	Silent	SNP	G	G	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr8:145698668G>T	ENST00000301332.2	+	17	2729	c.2352G>T	c.(2350-2352)ccG>ccT	p.P784P	FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000301331.5_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	784	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCCGCTCACCGGGACCCCCTG	0.741																																						uc003zcz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2350-2352)CCG>CCT		kinesin family member C2							13.0	11.0	12.0					8																	145698668		2161	4266	6427	SO:0001819	synonymous_variant	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145698668G>T	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.2352G>T	8.37:g.145698668G>T						KIFC2_uc003zda.2_Silent_p.P172P	p.P784P	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		17	2417	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		784			Pro-rich.		E9PHB2|Q96NN6	Silent	SNP	ENST00000301332.2	37	c.2352G>T	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508875	0.44660	.	.	ENSG00000167702	ENST00000528415	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	T	0.68577	0.3016	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67995	-0.5526	4	.	.	.	-12.2801	13.8465	0.63470	0.0:0.0:1.0:0.0	.	.	.	.	L	509	.	.	R	+	2	0	KIFC2	145669476	0.994000	0.37717	0.857000	0.33713	0.912000	0.54170	3.214000	0.51161	2.140000	0.66376	0.484000	0.47621	CGG		0.741	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		7	16	1	0	0.000157383	0.000186031	7	16				
RIC1	57589	broad.mit.edu	37	9	5774097	5774097	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr9:5774097G>A	ENST00000414202.2	+	26	4314	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1296K|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1259K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CCCCCGGGCAGAGGAGAGCAG	0.557																																						uc003zji.2		NA																	0					0						c.(3886-3888)GAG>AAG		connexin 43-interacting protein 150 isoform a							64.0	62.0	63.0					9																	5774097		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5774097G>A																												ENST00000414202.2:c.4123G>A	9.37:g.5774097G>A	ENSP00000416696:p.Glu1375Lys					KIAA1432_uc003zjl.3_Missense_Mutation_p.E1259K|ERMP1_uc011lme.1_Intron	p.E1296K	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	25	3979	+		Acute lymphoblastic leukemia(23;0.154)	1375						Missense_Mutation	SNP	ENST00000414202.2	37	c.3886G>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.80|18.80	3.700039|3.700039	0.68501|0.68501	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000414202;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75503|0.75503	0.3858|0.3858	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D|.	0.60575|.	0.988;0.988|.	P;P|.	0.54759|.	0.76;0.76|.	T|T	0.72673|0.72673	-0.4222|-0.4222	9|5	0.27082|.	T|.	0.32|.	-18.257|-18.257	19.816|19.816	0.96568|0.96568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1259;1375|.	B7ZM67;Q4ADV7|.	.;RIC1_HUMAN|.	K|K	1375;1296;1259|1266	.|.	ENSP00000416696:E1375K|.	E|R	+|+	1|2	0|0	KIAA1432|KIAA1432	5764097|5764097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.713000|0.713000	0.41058|0.41058	6.857000|6.857000	0.75455|0.75455	2.689000|2.689000	0.91719|0.91719	0.462000|0.462000	0.41574|0.41574	GAG|AGA		0.557	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			19	19	0	0	0	0	19	19				
DENND1A	57706	broad.mit.edu	37	9	126414381	126414381	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr9:126414381C>G	ENST00000373624.2	-	9	730	c.529G>C	c.(529-531)Gtg>Ctg	p.V177L	DENND1A_ENST00000542603.1_5'Flank|DENND1A_ENST00000394219.3_Missense_Mutation_p.V145L|DENND1A_ENST00000373618.1_Missense_Mutation_p.V145L|DENND1A_ENST00000394215.2_Missense_Mutation_p.V147L|DENND1A_ENST00000373620.3_Missense_Mutation_p.V177L|DENND1A_ENST00000473039.1_5'UTR	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	177	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TCCACAGCCACAAAATATTCT	0.398																																						uc004bnz.1		NA																	0				ovary(2)	2						c.(529-531)GTG>CTG		DENN/MADD domain containing 1A isoform 1							78.0	74.0	75.0					9																	126414381		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126414381C>G	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.529G>C	9.37:g.126414381C>G	ENSP00000362727:p.Val177Leu					DENND1A_uc011lzl.1_5'UTR|DENND1A_uc004bny.1_5'UTR|DENND1A_uc011lzm.1_Missense_Mutation_p.V145L|DENND1A_uc004boa.1_Missense_Mutation_p.V177L|DENND1A_uc004bob.1_Missense_Mutation_p.V147L|DENND1A_uc004boc.2_Missense_Mutation_p.V145L	p.V177L	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			9	762	-			177			DENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.529G>C	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117569	0.77323	.	.	ENSG00000119522	ENST00000373624;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84	5.55	5.55	0.83447	DENN (3);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	M	0.87682	2.9	0.58432	D	0.999997	B;P;D;D;P	0.69078	0.067;0.943;0.997;0.979;0.778	B;P;D;P;P	0.79784	0.127;0.785;0.993;0.892;0.697	T	0.18524	-1.0334	10	0.39692	T	0.17	-14.7476	18.856	0.92252	0.0:1.0:0.0:0.0	.	145;145;147;177;177	Q8TEH3-6;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3	.;.;.;.;DEN1A_HUMAN	L	177;145;177;147;145	ENSP00000362727:V177L;ENSP00000377766:V145L;ENSP00000362722:V177L;ENSP00000377763:V147L;ENSP00000362720:V145L	ENSP00000362720:V145L	V	-	1	0	DENND1A	125454202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.753000	0.94483	0.655000	0.94253	GTG		0.398	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		16	45	0	0	0	0	16	45				
GTF3C4	9329	broad.mit.edu	37	9	135546192	135546192	+	Silent	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr9:135546192G>A	ENST00000372146.4	+	1	771	c.207G>A	c.(205-207)ccG>ccA	p.P69P	DDX31_ENST00000372153.1_5'Flank|DDX31_ENST00000310532.2_5'Flank|DDX31_ENST00000372159.3_5'Flank|DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000480876.1_5'Flank|GTF3C4_ENST00000483873.2_Silent_p.P69P	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	69					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCCTGGAACCGCTGGCTTGGT	0.706																																					Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(205-207)CCG>CCA		general transcription factor IIIC 4							18.0	21.0	20.0					9																	135546192		2200	4296	6496	SO:0001819	synonymous_variant	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135546192G>A	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.207G>A	9.37:g.135546192G>A						DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.1_5'Flank|GTF3C4_uc010mzw.2_RNA	p.P69P	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	1	465	+			69					Q5VZJ7	Silent	SNP	ENST00000372146.4	37	c.207G>A	CCDS6953.1																																																																																				0.706	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			4	4	0	0	0	0	4	4				
NOTCH1	4851	broad.mit.edu	37	9	139412684	139412684	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr9:139412684C>T	ENST00000277541.6	-	7	1235	c.1160G>A	c.(1159-1161)tGc>tAc	p.C387Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	387	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGGTGTCGCAGTTGGAGCC	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1159-1161)TGC>TAC		notch1 preproprotein							77.0	84.0	82.0					9																	139412684		2169	4276	6445	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412684C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1160G>A	9.37:g.139412684C>T	ENSP00000277541:p.Cys387Tyr	HNSCC(8;0.001)					p.C387Y	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	7	1160	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	387			Extracellular (Potential).|EGF-like 10.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1160G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651015	0.88056	.	.	ENSG00000148400	ENST00000277541	D	0.88509	-2.39	4.82	4.82	0.62117	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	H	0.99404	4.55	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99297	1.0900	10	0.87932	D	0	.	16.4581	0.84029	0.0:1.0:0.0:0.0	.	387	P46531	NOTC1_HUMAN	Y	387	ENSP00000277541:C387Y	ENSP00000277541:C387Y	C	-	2	0	NOTCH1	138532505	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.304000	0.78882	2.223000	0.72356	0.514000	0.50259	TGC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	1	0	0	0	0	9	1				
MRPL41	64975	broad.mit.edu	37	9	140446808	140446808	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr9:140446808T>G	ENST00000371443.5	+	2	1063	c.275T>G	c.(274-276)tTc>tGc	p.F92C	DPH7_ENST00000479650.1_5'Flank|PNPLA7_ENST00000406427.1_5'Flank|PNPLA7_ENST00000277531.4_5'Flank	NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	92					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GCGCAGCTCTTCAGCGAAGCC	0.622																																						uc004cnh.3		NA																	0					0						c.(274-276)TTC>TGC		mitochondrial ribosomal protein L41							39.0	34.0	35.0					9																	140446808		2202	4298	6500	SO:0001583	missense	64975				apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr9:140446808T>G	AB051625	CCDS7046.1	9q34.3	2012-09-13			ENSG00000182154	ENSG00000182154		"""Mitochondrial ribosomal proteins / large subunits"""	14492	protein-coding gene	gene with protein product		611846				11543634	Standard	NM_032477		Approved	MRP-L27, RPML27, BMRP, PIG3, MRPL27	uc004cnh.4	Q8IXM3	OTTHUMG00000020987	ENST00000371443.5:c.275T>G	9.37:g.140446808T>G	ENSP00000360498:p.Phe92Cys					PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank	p.F92C	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)	2	405	+	all_cancers(76;0.106)		92					Q96Q49	Missense_Mutation	SNP	ENST00000371443.5	37	c.275T>G	CCDS7046.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.655292	0.67472	.	.	ENSG00000182154	ENST00000371443	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.84243	0.5429	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87797	0.2622	9	0.87932	D	0	.	14.242	0.65963	0.0:0.0:0.0:1.0	.	92	Q8IXM3	RM41_HUMAN	C	92	.	ENSP00000360498:F92C	F	+	2	0	MRPL41	139566629	1.000000	0.71417	0.803000	0.32268	0.008000	0.06430	7.473000	0.81007	2.026000	0.59711	0.454000	0.30748	TTC		0.622	MRPL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055327.1	NM_032477		13	29	0	0	0	0	13	29				
MXRA5	25878	broad.mit.edu	37	X	3241328	3241328	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chrX:3241328C>T	ENST00000217939.6	-	5	2552	c.2398G>A	c.(2398-2400)Gaa>Aaa	p.E800K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	800						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGGGTACTTCTGTGCCCTTA	0.468																																						uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(2398-2400)GAA>AAA		adlican precursor							135.0	132.0	133.0					X																	3241328		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3241328C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2398G>A	X.37:g.3241328C>T	ENSP00000217939:p.Glu800Lys						p.E800K	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	2555	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	800					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.2398G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	9.434	1.086201	0.20390	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63417	-0.04	3.63	1.75	0.24633	.	0.827670	0.10064	U	0.720592	T	0.48960	0.1529	N	0.24115	0.695	0.09310	N	1	B	0.19331	0.035	B	0.12156	0.007	T	0.38824	-0.9643	10	0.54805	T	0.06	.	12.3768	0.55285	0.0:0.6833:0.3167:0.0	.	800	Q9NR99	MXRA5_HUMAN	K	800	ENSP00000217939:E800K	ENSP00000217939:E800K	E	-	1	0	MXRA5	3251328	0.006000	0.16342	0.000000	0.03702	0.029000	0.11900	0.588000	0.23924	0.000000	0.14550	-0.346000	0.07831	GAA		0.468	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		27	16	0	0	0	0	27	16				
FRMPD4	9758	broad.mit.edu	37	X	12701691	12701691	+	Silent	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chrX:12701691C>T	ENST00000380682.1	+	6	1064	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	186					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGTCATCATCAACGGCCAAG	0.443																																						uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(556-558)ATC>ATT		FERM and PDZ domain containing 4							112.0	85.0	94.0					X																	12701691		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12701691C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.558C>T	X.37:g.12701691C>T						FRMPD4_uc011mij.1_Silent_p.I178I	p.I186I	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			6	1064	+			186					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.558C>T	CCDS35201.1																																																																																				0.443	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		19	8	0	0	0	0	19	8				
GPR64	10149	broad.mit.edu	37	X	19022962	19022962	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chrX:19022962C>A	ENST00000379869.3	-	23	2038	c.1875G>T	c.(1873-1875)atG>atT	p.M625I	GPR64_ENST00000340581.3_Missense_Mutation_p.M506I|GPR64_ENST00000356606.4_Missense_Mutation_p.M611I|GPR64_ENST00000354791.3_Missense_Mutation_p.M609I|GPR64_ENST00000379873.2_Missense_Mutation_p.M625I|GPR64_ENST00000360279.4_Missense_Mutation_p.M603I|GPR64_ENST00000357544.3_Missense_Mutation_p.M595I|GPR64_ENST00000379878.3_Missense_Mutation_p.M609I|GPR64_ENST00000379876.1_Missense_Mutation_p.M601I|GPR64_ENST00000357991.3_Missense_Mutation_p.M622I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	625					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TCAGAGCCATCATTTGAGCAG	0.338																																						uc004cyx.2		NA																	0					0						c.(1873-1875)ATG>ATT		G protein-coupled receptor 64 isoform 1							139.0	137.0	138.0					X																	19022962		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19022962C>A	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1875G>T	X.37:g.19022962C>A	ENSP00000369198:p.Met625Ile					GPR64_uc004cyy.2_Missense_Mutation_p.M622I|GPR64_uc004cyz.2_Missense_Mutation_p.M611I|GPR64_uc004czb.2_Missense_Mutation_p.M625I|GPR64_uc004czc.2_Missense_Mutation_p.M609I|GPR64_uc004czd.2_Missense_Mutation_p.M601I|GPR64_uc004cze.2_Missense_Mutation_p.M595I|GPR64_uc004czf.2_Missense_Mutation_p.M587I|GPR64_uc004cza.2_Missense_Mutation_p.M603I|GPR64_uc004cyw.2_Missense_Mutation_p.M609I|GPR64_uc010nfj.2_Missense_Mutation_p.M506I	p.M625I	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			23	2039	-	Hepatocellular(33;0.183)		625			Extracellular (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.1875G>T	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	6.844	0.524907	0.13066	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.9	3.2	0.36748	.	0.324182	0.27198	N	0.020480	T	0.19248	0.0462	N	0.08118	0	0.19575	N	0.999968	B;B;B;B;B;B;B;B;B;B;B	0.22211	0.01;0.001;0.014;0.007;0.007;0.053;0.053;0.032;0.032;0.009;0.066	B;B;B;B;B;B;B;B;B;B;B	0.23275	0.045;0.006;0.014;0.023;0.023;0.036;0.036;0.023;0.023;0.039;0.039	T	0.17198	-1.0377	10	0.45353	T	0.12	.	10.3567	0.43969	0.0:0.7402:0.0:0.2598	.	506;587;595;601;609;625;603;611;622;625;609	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	I	625;609;609;601;595;625;603;622;611;506	ENSP00000369202:M625I;ENSP00000369207:M609I;ENSP00000346845:M609I;ENSP00000369205:M601I;ENSP00000350152:M595I;ENSP00000369198:M625I;ENSP00000353421:M603I;ENSP00000350680:M622I;ENSP00000349015:M611I;ENSP00000344972:M506I	ENSP00000344972:M506I	M	-	3	0	GPR64	18932883	0.928000	0.31464	0.982000	0.44146	0.185000	0.23345	0.804000	0.27098	0.644000	0.30656	0.513000	0.50165	ATG		0.338	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			84	31	1	0	1.8e-35	2.38e-35	84	31				
P2RY10	27334	broad.mit.edu	37	X	78216656	78216656	+	Silent	SNP	C	C	T			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chrX:78216656C>T	ENST00000171757.2	+	4	919	c.639C>T	c.(637-639)atC>atT	p.I213I	P2RY10_ENST00000544091.1_Silent_p.I213I	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAGTGATCATCATCGCATGGT	0.478																																						uc004ede.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(637-639)ATC>ATT		G-protein coupled purinergic receptor P2Y10							165.0	124.0	138.0					X																	78216656		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216656C>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.639C>T	X.37:g.78216656C>T						P2RY10_uc004edf.2_Silent_p.I213I	p.I213I	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1008	+			213			Helical; Name=5; (Potential).		D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.639C>T	CCDS14442.1																																																																																				0.478	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			38	13	0	0	0	0	38	13				
IRS4	8471	broad.mit.edu	37	X	107977584	107977584	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chrX:107977584G>A	ENST00000372129.2	-	1	2067	c.1991C>T	c.(1990-1992)aCg>aTg	p.T664M	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	664					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCATTCTTTCGTGGCTCCTCT	0.512																																						uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1990-1992)ACG>ATG		insulin receptor substrate 4							275.0	279.0	278.0					X																	107977584		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977584G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1991C>T	X.37:g.107977584G>A	ENSP00000361202:p.Thr664Met						p.T664M	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	2024	-			664						Missense_Mutation	SNP	ENST00000372129.2	37	c.1991C>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	9.454	1.091336	0.20471	.	.	ENSG00000133124	ENST00000372129	T	0.36520	1.25	4.9	3.03	0.35002	.	0.662303	0.14897	N	0.292011	T	0.34019	0.0883	L	0.44542	1.39	0.09310	N	1	D	0.60575	0.988	P	0.44477	0.451	T	0.13469	-1.0508	10	0.48119	T	0.1	-1.7222	13.086	0.59140	0.0:0.0:0.7106:0.2893	.	664	O14654	IRS4_HUMAN	M	664	ENSP00000361202:T664M	ENSP00000361202:T664M	T	-	2	0	IRS4	107864240	1.000000	0.71417	0.982000	0.44146	0.183000	0.23260	4.048000	0.57390	1.039000	0.40074	0.600000	0.82982	ACG		0.512	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		219	77	0	0	0	0	219	77				
ZMYM6	9204	broad.mit.edu	37	1	35452758	35452759	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr1:35452758_35452759insA	ENST00000357182.4	-	16	4151_4152	c.3924_3925insT	c.(3922-3927)cttgcafs	p.A1309fs	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6NB_ENST00000373337.3_5'Flank|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|RP11-244H3.1_ENST00000417456.1_RNA	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1309					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GATGTGACTGCAAGTCTTAGGG	0.366																																						uc001byh.2		NA																	0				ovary(3)	3						c.(3922-3927)CTTGCAfs		zinc finger protein 258																																				SO:0001589	frameshift_variant	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35452758_35452759insA	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3925dupT	1.37:g.35452760_35452760dupA	ENSP00000349708:p.Ala1309fs					uc001byd.3_5'Flank|uc001bye.2_5'Flank|ZMYM6_uc001byf.1_Intron|ZMYM6_uc010oht.1_Frame_Shift_Ins_p.L1211fs	p.L1308fs	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			16	4152_4153	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	1308_1309					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Frame_Shift_Ins	INS	ENST00000357182.4	37	c.3924_3925insT	CCDS387.2																																																																																				0.366	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		27	55	NA	NA	NA	NA	27	55	---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31819914	31819915	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr14:31819914_31819915insA	ENST00000389961.3	-	16	2401_2402	c.2402_2403insT	c.(2401-2403)atafs	p.I801fs	HEATR5A_ENST00000439727.1_Frame_Shift_Ins_p.I514fs|HEATR5A_ENST00000439348.1_Frame_Shift_Ins_p.I801fs|HEATR5A_ENST00000543095.2_Frame_Shift_Ins_p.I807fs|HEATR5A_ENST00000404677.3_Frame_Shift_Ins_p.I807fs			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	801										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GCTGTTCCAATATAAGAAGCCT	0.351																																						uc001wrf.3		NA																	0				ovary(1)	1						c.(1540-1542)ATAfs		HEAT repeat containing 5A																																				SO:0001589	frameshift_variant	25938						binding	g.chr14:31819914_31819915insA	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.2403dupT	14.37:g.31819915_31819915dupA	ENSP00000374611:p.Ile801fs					HEATR5A_uc010ami.2_Frame_Shift_Ins_p.I412fs|HEATR5A_uc001wrg.1_Frame_Shift_Ins_p.I396fs|HEATR5A_uc010tpk.1_Frame_Shift_Ins_p.I807fs	p.I514fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	11	1618_1619	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		801					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Frame_Shift_Ins	INS	ENST00000389961.3	37	c.1541_1542insT																																																																																					0.351	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		6	10	NA	NA	NA	NA	6	10	---	---	---	---
CLK3	1198	broad.mit.edu	37	15	74919886	74919888	+	In_Frame_Del	DEL	GAG	GAG	-	rs149199059		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr15:74919886_74919888delGAG	ENST00000395066.3	+	9	1824_1826	c.1363_1365delGAG	c.(1363-1365)gagdel	p.E456del	CLK3_ENST00000345005.4_In_Frame_Del_p.E308del|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000352989.5_In_Frame_Del_p.E285del	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	456	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TCAGAGCTGTGAGGAGAAGTCAG	0.576																																					Ovarian(133;694 1754 28950 29027 31859)	uc010uln.1		NA																	0				stomach(2)	2						c.(1363-1365)GAGdel		CDC-like kinase 3 isoform a																																				SO:0001651	inframe_deletion	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74919886_74919888delGAG	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1363_1365delGAG	15.37:g.74919889_74919891delGAG	ENSP00000378505:p.Glu456del					CLK3_uc002ayg.3_In_Frame_Del_p.E308del|CLK3_uc002ayh.3_In_Frame_Del_p.E87del|CLK3_uc002ayj.3_In_Frame_Del_p.E285del|CLK3_uc002ayk.3_In_Frame_Del_p.E235del|CLK3_uc002ayl.3_In_Frame_Del_p.E141del	p.E456del	NM_001130028	NP_001123500	P49761	CLK3_HUMAN			9	1824_1826	+			456			Protein kinase.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	In_Frame_Del	DEL	ENST00000395066.3	37	c.1363_1365delGAG	CCDS45304.1																																																																																				0.576	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			54	54	NA	NA	NA	NA	54	54	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141122323	141122323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr2:141122323delG	ENST00000389484.3	-	72	12009	c.11038delC	c.(11038-11040)cttfs	p.L3680fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3680	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTATTGCAAAGGAACTCATCA	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(11038-11040)CTTfs		low density lipoprotein-related protein 1B							126.0	128.0	127.0					2																	141122323		2203	4300	6503	SO:0001589	frameshift_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141122323delG	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11038delC	2.37:g.141122323delG	ENSP00000374135:p.Leu3680fs	TSP Lung(27;0.18)					p.L3680fs	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	72	12010	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3680			Extracellular (Potential).|LDL-receptor class A 30.		Q8WY29|Q8WY30|Q8WY31	Frame_Shift_Del	DEL	ENST00000389484.3	37	c.11038delC	CCDS2182.1																																																																																				0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		46	112	NA	NA	NA	NA	46	112	---	---	---	---
LAMP5	24141	broad.mit.edu	37	20	9496163	9496180	+	In_Frame_Del	DEL	CTGAAAAAGATATATTTG	CTGAAAAAGATATATTTG	-	rs188938901		TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr20:9496163_9496180delCTGAAAAAGATATATTTG	ENST00000246070.2	+	2	620_637	c.128_145delCTGAAAAAGATATATTTG	c.(127-147)cctgaaaaagatatatttgtg>ctg	p.43_49PEKDIFV>L	LAMP5_ENST00000427562.2_In_Frame_Del_p.43_49PEKDIFV>L|RP5-1119D9.4_ENST00000443469.1_RNA	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	43						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											TCCACTAACCCTGAAAAAGATATATTTGTGGTGCGGGA	0.436																																						uc002wni.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(127-147)CCTGAAAAAGATATATTTGTG>CTG		chromosome 20 open reading frame 103 precursor																																				SO:0001651	inframe_deletion	24141					integral to membrane		g.chr20:9496163_9496180delCTGAAAAAGATATATTTG	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.128_145delCTGAAAAAGATATATTTG	20.37:g.9496163_9496180delCTGAAAAAGATATATTTG	ENSP00000246070:p.Pro43_Val49delinsLeu					C20orf103_uc010zrc.1_In_Frame_Del_p.43_49PEKDIFV>L	p.43_49PEKDIFV>L	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		2	357_374	+			43_49			Extracellular (Potential).		B4DHZ7|B7Z9Z9	In_Frame_Del	DEL	ENST00000246070.2	37	c.128_145delCTGAAAAAGATATATTTG	CCDS13106.1																																																																																				0.436	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		24	96	NA	NA	NA	NA	24	96	---	---	---	---
SHROOM1	134549	broad.mit.edu	37	5	132161695	132161695	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr5:132161695delG	ENST00000378679.3	-	4	942	c.138delC	c.(136-138)cgcfs	p.R46fs	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000378676.1_Frame_Shift_Del_p.R46fs|SHROOM1_ENST00000319854.3_Frame_Shift_Del_p.R46fs	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	46					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGACTGCGTGCGCGGCTCGG	0.706																																						uc003kxx.2		NA																	0				pancreas(1)	1						c.(136-138)CGCfs		shroom family member 1							5.0	7.0	7.0					5																	132161695		2036	4173	6209	SO:0001589	frameshift_variant	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132161695delG	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.138delC	5.37:g.132161695delG	ENSP00000367950:p.Arg46fs					SHROOM1_uc003kxy.1_Frame_Shift_Del_p.R46fs	p.R46fs	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	943	-			46					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Frame_Shift_Del	DEL	ENST00000378679.3	37	c.138delC	CCDS54902.1																																																																																				0.706	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		2	4	NA	NA	NA	NA	2	4	---	---	---	---
HLA-A	3105	broad.mit.edu	37	6	29911958	29911959	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:29911958_29911959insGC	ENST00000396634.1	+	6	1020_1021	c.679_680insGC	c.(679-681)tgcfs	p.C227fs	HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.C227fs|HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.C227fs|HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.C227fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	227	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CACCCTGAGGTGCTGGGCCCTG	0.604									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(679-681)TGCfs		major histocompatibility complex, class I, A																																				SO:0001589	frameshift_variant	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29911958_29911959insGC	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.680_681dupGC	6.37:g.29911959_29911960dupGC	ENSP00000379873:p.Cys227fs	Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Frame_Shift_Ins_p.C106fs|HLA-A_uc003nok.2_Frame_Shift_Ins_p.C106fs|HLA-A_uc003non.2_Frame_Shift_Ins_p.C227fs|HLA-A_uc003noo.2_Frame_Shift_Ins_p.C227fs|HLA-A_uc010jrr.2_Frame_Shift_Ins_p.C227fs|HLA-A_uc003nom.2_Frame_Shift_Ins_p.C106fs|HLA-A_uc010klp.2_Frame_Shift_Ins_p.C199fs|HLA-A_uc011dmc.1_Frame_Shift_Ins_p.C106fs|HLA-A_uc011dmd.1_Frame_Shift_Ins_p.C106fs	p.C227fs	NM_002116	NP_002107	P30443	1A01_HUMAN			4	679_680	+			227			Extracellular (Potential).|Alpha-3.|Ig-like C1-type.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Ins	INS	ENST00000396634.1	37	c.679_680insGC	CCDS34373.1																																																																																				0.604	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		37	120	NA	NA	NA	NA	37	120	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151162005	151162006	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BA-6868-01B-12D-1912-08	TCGA-BA-6868-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	51647474-f538-4e96-babd-e742f1fb793f	9c4cf4d1-4c14-4575-898a-6b6ad2e9aa65	g.chr6:151162005_151162006delGT	ENST00000358517.2	+	16	4342_4343	c.4131_4132delGT	c.(4129-4134)cagtgtfs	p.C1378fs	PLEKHG1_ENST00000367328.1_Frame_Shift_Del_p.C1378fs			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1378							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AAAAATTTCAGTGTCTCAGTTC	0.366																																						uc003qny.1		NA																	0				ovary(2)	2						c.(4129-4134)CAGTGTfs		pleckstrin homology domain containing, family G																																				SO:0001589	frameshift_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151162005_151162006delGT	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.4131_4132delGT	6.37:g.151162007_151162008delGT	ENSP00000351318:p.Cys1378fs					PLEKHG1_uc011eem.1_Frame_Shift_Del_p.Q1436fs	p.Q1377fs	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	4443_4444	+			1377_1378					Q5T1F2	Frame_Shift_Del	DEL	ENST00000358517.2	37	c.4131_4132delGT	CCDS34552.1																																																																																				0.366	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			13	94	NA	NA	NA	NA	13	94	---	---	---	---
